Paediatrics — USMLE Step 2 CK Notes

Sickle Cell Anemia

Splenic sequestration crisis: Splenomegaly and signs of Shock

Compensatory reticulocytosis + Thrombocytopenia (platelets also trapped in spleen)

Sepsis, pneumonia and meningitis Strep Pneu MCC MCC of osteomyelitis is salmonella

Aplastic Crisis: Decreased Reticulocytes w norm Plt number (cf splenic crisis)

Transient arrest in Erythropoiesis

Secondary to infection eg Parvo —> non specific flu like sx

Acute Lymphoblastic Leukaemia

Nontender LAD and Fever

HSM d/t leukaemia infiltrates (swollen gums also)

Petechiae d/t thrombocytopenia (bruising); Pallor d/t anemia

Pancytopenia -> Recurrent infections; bleeding etc

Aplastic Anemia: Pancytopenia

BM Failure d/t HSC Deficiency (CD34+)

Drugs (carbamazepine, chloramphenicol, sulfonamides); Radiation/Toxin (benzene, solvents)

Hypocellular BM with fat infiltration and Stroma cells

No Bone Pain or Splenomegaly Tx: Remove offending agent —> often resolves

Thalasseamia:

Norm Hb: 2 alpha and 2 beta (HbA) or 2 alpha with 2 gamma (kids) (HbF)

Increased iron d/t abnorm absorption

Elevated RBC count and reticulocytosis

Target cells on peripheral smear d/t reduced RBC volume

Beta Thalassemia Major: genes mutated -> Absent beta globin

Increased HbF and Hb A2 (2Alpha, 2 delta)

No HbA

Tx: Blood transfusion w iron chelation

Alpha Thalassemia: genes deleted

Minima: 1 gene loss —> asym

Minor: 2 genes lost —-> mild microcytic anaemia

HbH: 3 alpha genes lost: tetramers of beta chains: children/adults

Chronic hemolytic anaemia

Hb Barts: tetramers of gamma chains: High output HF; anasarca

Blood Transfusion Reactions

Anaphylaxis -> Recipient has IgA Abs -> irradiate

Acute Hemolytic: ABO Incompatibility

Positive Coombs Test

Fever, Hemonglobinuria ——->>> ATN——>> AKI ——->>> Flank pain

DIC, Shock

Febrile Nonhemolytic: Most Common Reaction

Cytokines accumulation during blood storage

Transient Fever and chills

Prevent via leukoreduction thereby minimising cytokines production by WBCs

Urticarial -> Recipient has IgE against blood product component

Transfusion-related Acute Lung Injury -> Donor has anti-leukocyte Abs

Non cardiogenic pulm edema with bilateral infiltrates

Delayed hemolytic: Anamnestic Ab Response

Often asymptomatic; lab evidence of hemolytic anemia

Positive Coombs and new antibody screen

Graft v Host -> Donor T Lymphocytes

Rash, fever, GI sx and Pancytopenia

Neonatal Polycythemia

Hematocrit >65% in term infants

D/t intrauterine hypoxia —>> placental dysfunction; maternal diabetes or smoking

Ruddy complexion; hyperbilirubinaemia

Hypocalcaemia + hypoglycaemia d/t increased cellular uptake

Resp distress, cyanosis, apnea, Irritability

Tx: IV Fluids; Glucose; Partial exchange transfusion

Anemia of prematurity

Impaired EPO Production; short RBC life span and iatrogenic blood sampling

Tachycardia; apnea; poor weight gain

Low Reticulocyte count

Tx: minimise blood draws; Fe supplementation; Transfusions

Langerhans histiocytosis

Rash similar to candida diaper rash: Beefy erythematous plaques w satellite papules

Lytic bone lesions

Atopic Dermatitis

Infant: Itchy, red scaly crusted lesions on extensor surfaces, trunk, cheek and scalp

Child/Adult: lichenified plaques in flexural creases

Tx: Emollients +/- steroid ointment

Infectious Complications:

Impetigo: Non pruritic but painful

Eczema Herpeticum: HPV1 Can be life threatening in infants -> systemic acyclovir

Painful, vesicular rash with ‘punched out’ erosions (umbilicated) and haemorrhagic crusting

Fever, irritability and LAD typical

Molluscum Contagiosum:

Tinea Corporis: Trichophyton Rubrum (dermatophytes)

Pruritic circular patch with central clearing and raised, scaly border

Seborrheic Dermatitis

Scalp, face (eyebrows/eyelids, posterior ears, nasolabial folds); Umbilicus, diaper area

Erythematous plaques and/or yellow, greasy scales

Tx: First Line: Emollients, nonmedicated shampoos

Second Line: Topical antifungals or low potency glucocorticoids

Tinea Capitis (dermatophyte)

Most common in African American kids

Scaly, erythematous patch with hair loss on scalp +/- black dots in area (broken hair)

+/- LAD (occipital or postauricular)

Itchy, inflamm and scarring poss

Dx: Clinical; can confirm with KOH

Tx: Oral Griseofulvin or Terbinafine

ENTIRE household should be tx with selenium sulfide or ketoconazole shampoo

Alopecia Areata

Autoimmune

Smooth circular areas of hair loss w/o scaling; Not itchy

Infants of diabetic mothers (IDM)

Trimester 1: Mother diabetic prepregnancy -> organogenesis/Birth defects more common

Second/Third Trimesters: Gestational Diabetes

Fetal insulin release triggered —->> increased glycogen and fat storage (organomegaly)

——->>> increased GF production (macrosomnia/birth weight >4kg)

——>>>> increased O2 consumption (Polycythemia)

Complications: Neonatal Seizures (always check glucose/calcium!)

Acrocyanosis: Cyanosis of hands/feet -> Normal in newborns: D/t benign peripheral vasospasm

Vitamin D Deficiency

Craniotabes (Ping pong ball skull): soft skulls bones

Delayed fontanelle closure; Frontal bossing

Hypertrophy of costochondral joints: rachitic rosary

Femoral and tibial bowing once weight bearing; Ulnar/radial bowing

RF: Reduced sun; increased skin pigmentation

Poor bone mineralisation and accumulation of growth plate cartilage -> widened wrists

Precocious Puberty

Normal Bone age:

Premature adrenarche: Isolated pubic hair development

More common in obese kids

Malignant testosterone secreting hepatoblastoma in boys

Premature thelarche: Isolated breast development

Advanced bone age:

High basal LH: Central precocious puberty —->> idiopathic/CNS Lesion: Need MRI

Low basal LH ——>> GnRH stimulation test: High LH ——->> Central precocious puberty

Low LH ——>> Periph precocious puberty

Periph precocious puberty (M <9; F <8)

—> secretion by gonads or adrenals (norm sized gonads presentation)

Virilisation: Clitoromegaly and voice deepening

Delayed Puberty

No breast development or pubic hair in girls by age 13

Menses by 15

No testicular enlargement in boys by age 14

Ie Tanner 2

Congenital hypothyroidism

Most commonly d/t thyroid dysgenesis

Appear norm at birth d/t presence of maternal hormones

Apathy, hypotonia, large tongue, abdo bloating and Umbilical hernia

Pathologic jaundice, difficult breathing, noisy respiration, hypothermia

Refractory macrocytic anemia

Screening via T4 and TSH levels

Tx: levothyroxine

Diabetes

Glucokinase gene mutation: MODY

Non classic Cong adrenal hyperplasia: later onset

Partial 21 hydroxylase deficiency

Sufficient levels of glucocortoids and mineralcorticoids maintained —> norm electrolytes

Premature puberty or early adulthood onset

Severe acne; hirsutism; increased growth velocity and bone age

AUB most common initial sx (masked if OCPs used)

Virilisation generally absent

21 hydroxylase def: High androgens; low cortisol and mineralocorticoid

17 alpha hydroxylase deficiency: high mineralocorticoid; low cortisol and androgens

11 beta hydroxylase def: High androgens and mineralocorticoid; low cortisol

High androgens give ambiguous genitalia in F Low androgens cause ambiguous genitalia in M

Gastroschisis: Herniation of uncovered bowel Normally isolated anomaly; High AFP

Lateral to umbilicus

Oligohydramnios d/t loss of nutrients across bowel wall

Chronic inflamm and edema ——>> intestinal thickening

Increased risk of necrotising enterocolitis and bowel obstruction; Short bowel syndrome

Management: Sterile saline dressings and plastic wrap (minimise insensible heat/fluid losses)

NG tube to decompress stomach, antibiotics, defect repaired surgically

Beckwith Wiedemann Syn

Deregulation of imprinted gene expression in chromo 11p15 —-> genes that encode IGF 2

Fetal macrosomnia, Macroglossia; Hemihyperplasia

Hyperinsulinameia —> hypoglycaemia

Omphalocele/umbilical hernia; ear pits

Complications: Wilms tumour; Hepatoblastoma

Surveillance: AFP (hepatoblastoma); Abdo/renal US

Umbilical Hernia

Incomplete closure of abdo muscles

Associated with cong hypothyroidism, EDS, Beckwith-Widermann and Downs

Small hernias close spontaneously (<1.5 cm)

Repair not needed unless persists past age 2/3

Omphalocele

Associated with Beckwith Wiedemann: Big baby with big tongue, low glucose and ear pits

Edwards and Patau

Prune Belly Syndrome

Defect in abdo musculature

Intestinal loops seen through thin abdo wall (prune appearance) and are covered by skin

Reye Syndrome: aspirin

Microvesicular fatty Infiltration

Hyperammonemia; Coagulopathy; Encephalopathy

Breast Feeding Jaundice: Insufficient intake of breast milk

Increased enterohepatic circulation w decreased bilirubin elimination

Signs of dehydration; retained meconium

Unconjugated hyperbilirubinemia

Tx: Breastfeed every 2-3 hrs for >10-20 mins per breast during first month of life

——> ~~ 8-12 feeds a day

Breast Milk Jaundice

High levels of beta-glucuronidase in breast milk deconjugates intestinal bilirubin

Increased enterohepatic circulation

Physiological jaundice

At birth fetal RBCs are increased with a shortened life span

—->> increased Bilirubin production + Increased haematocrit

Immature uridine diphosphogluconate glucuronosyltransferase (UGT) activity

Enterohepatic recycling increased

Low bacterial load in newborn gut causes slower conversion of bilirubin to urobiliongen —->> feces

Pathologic Jaundice

Day 1

High bilirubin in first 24 hrs of life always cause for concern

Always pathologic if: Day 1/ Bilirubin >12/ Direct Bil >2/ rate of rise >5 per dy

Dx: Coombs

——> if + then Rh/ABO incompatibility

If - then twin/twin or mum/foetus transfusion, IDM, Spherocytosis etc

Biliary Atresia

Bile ducts cannot drain bile ——->> liver failure —> Hepatomegaly Absent/small GB

Triangular cord sign: fibrous remnants above porta hepatis Direct Bilirubin > 20% of Total Bilirubin

Dark urine, pale stool and high bilirubin; LFTs elevated

Needs surgery

Other causes of Direct Hyperbilirubinemia

Rule out sepsis!

Galactosemia, hypothyroidism, choledochal cyst (biliary duct), CF

Indirect Bili can cross BBB —-> Deposit in BG and brainstem nuclei —-> Kernicterus

Tx: Phototherapy ionises unconjugated bili so it can be excreted

Intussusception

Most children don’t have a lead point (75%)

Meckels diverticulum, polyps and hematoma (Henoch-Scholein Purpura)

Ileum telescopes into caecum —->>> pain, obstruction, edema

——->>> compression of blood vessels —> bowel ischaemia—> rectal bleeding (currant jelly stools)

Periodic pain: intermittent inconsolable crying, draw legs up

Sausage shaped abdo mass; Target sign on US

Tx:Enema reduction: Air enemas preferred as safer and faster than contrast (hydrostatic)

Food protein induced allergic proctocolitis

Hx of allergies in family -> D/t sensitisation to (milk) protein

Painless, bloody stools +/— spit up

Tx: Eliminate milk and soy from maternal diet in breastfed

Hydrolysed (predigestion proteins) formula if formula fed

Spontaneous resolution by 1 year

Celiac Disease

Poor growth w Abdo discomfort

Associated with T1DM and Downs

Dx: Duodenal biopsy: intraepithelial lymphocytosis

Pyloric Stenosis

Abdo US: thickened and elongated pylorus

Non bilious emesis, projectile vomiting followed by hunger

Visible Peristaltic waves

Boys 1-2 months

Risks: First born boy, prior oral macrolide use; bottle feeding

Tx: IV rehydration and pylorotomy

Biliary emesis Work Up

NG tube decompression

IV Fluids

Abdo X-RAY!

CAUSES:

Meconium ileus

Hirschsprung

Malrotation

Duodenal atresia: double bubble on X-RAY

Jejenal atresia/ileal atresia: triple bubble sign

Malrotation with Midgut Volvulus X-ray shows NG tube in misplaced duodenum

Dx: Upper GI series: Barium swallow + X-RAY

Finding of Ligament of Treitz on the Right side of abdomen

Contrast in a corkscrew pattern

Ladd Procedure: Fix bowel in a non rotated position to minimise recurrence

Hirsprung

X-ray shows dilated bowel loops ——->>>> Contrast enema best initial test

Dx: Rectal suction biopsy

Meconium Ileus

X-ray shows dilated bowel loops ——->>>> Contrast enema

Microcolon

Gastrograffin enema is Dx and Tx

Jejenal/ileal atresia

And D/t vascular accident in utero —-> necrosis and resorption of fetal intestine

RF: Vasoconstrictive meds; cocaine; smoking

Triple bubble sign: Gas trapping in stomach, duodenum and jejenum ———>>>> Gasless colon

Constipation

Limit cows milk to <24oz a day; increase fibre and water

Polyethylene glycol, mineral oil if dietary modifications unsuccessful

Chylothorax

Increased triglycerides

Traumatic causes: cardiothoracic surgery (disruption of thoracic duct); Malignancy

Congenital malformations, specific syndromes: Downs/Noonan

Management: Drainage via thoracentesis or chest tube

Limitation of dietary fat

Respiratory distress syndrome

RF: Male; C Section; Perinatal asphyxia

Maternal Diabetes ——->>> insulin antagonises cortisol and blocks maturation of sphingomyelin

Diffuse reticulogranular pattern (ground glass opacities) + Air bronchograms; atelecstasis

Tx: Exogenous surfactant and early continuous PEEP

Congenital diaphragmatic Hernia

Displaced cardiac silhouette; Air filled loops of herniated bowel in lung field adjacent

Barrel shaped chest and scaphoid (concave) abdomen; Absent breath sounds on side of hernia

D/t incomplete fusion of pleuroperitoneal folds -> commonly on Left

Biggest concern: Pulmonary Hypoplasia

In utero remodelling of pulmonary vasculature leads to arterial muscular hyperplasia and pulm ## HTN

Dx: Chest X-ray

Management: Endotracheal Intubation, cautious ventilation and gastric decompression

(gut prevented normal development)

Tx: have mother deliver in facility with Extra Corporeal Membrane Oxygenation/OR

—>> let lungs mature for 3-4 days then surgery

Transient Tachypnea of Newborn

Delayed resorption and clearance of alveolar fluid

Resorption occurs with fetal maturity (d/t increased catecholamine signals) and increases during

vaginal labour: Prematurity, maternal diabetes and C Section are risks

Perihilar streaking d/t fluid, air trapping, fluid in fissure

Tx: Supportive +/- O2

Resolves spontaneously in 1-3 days

Bronchopulmonary Dysplasia (BPD)

D/t repeated insult to neonatal lung from mechanical ventilation/prolonged O2 exposure/inflamm

Most recover in 2-4, months but some develop pulm arterial HTN

Decreased lung volumes; lungs appear hazy

Bronchiolitis: wheezing/crackles: Hydration, nasal suction

RSV: Fall and winter months -> Others eg influenza

Low grade fever, rhinorrhea, cough, apnea; LRT infection

Apnea (esp <2 months) and resp distress

Hyperresonance to percussion (hyperinflated lungs with flattened diaphragm)

Clinical dx

Tx: Supportive care: Hydration, nasal suction

No stridor (cf croup) Prevention: Palivizumab in selected infants:

Croup: stridor: racemic epinephrine Most commonly d/t parainfluenza virus -> Seal bark cough

Subglottic narrowing on radiograph (steeple sign)

Tx: stridor at rest (moderate/severe croup): Nebulised racemic epinephrine then glucocorticoids

If no evidence of resp distress or no strider at rest: cool mist (humidified air) and fluids

TE-Fistula

Drooling baby who cant breathe

Dx: Place feeding tube, take X-RAY —>> see coiled in thorax

Check for VACTER associated anomalies:

Meconium Aspiration Syndrome

ROM yielded green/brown fluid -> Chest X-RAY resembles pneumonia

Intubate and suction before stimulation

Complications: Pulm Artery HTN; Pneumonitis

Approach to Pharyngitis

Presence of viral sx: Cough, rhinorrhea, conjunctivitis, oral ulcers (vesicles) ——> Symptomatic tx only

Presence of exudates, edema, palatal petechiae and absence of viral sx

–> Rapid Strep Ag Test (low sensitivity) ——> If negative then culture

Positive Ag/Culture for Strep —->> Pen/Clindamycin

Causes of stridor in children:

Croup (laryngotracheitis): Inspiratory (d/t airway edema) or biphasic (severe cases)

—> stridor (high pitched noise) + harsh, barking, seal-like cough

Stridor worsens w agitation (eg crying) or excitement and typically Inspiratory

Foreign Body Aspiration: Inspiratory

Hyperresonance; atelecstasis if obstruction complete; Mediastinal shift to unaffected side

Management: Rigid bronchoscopy

Laryngomalacia: Floppy supraglottic structures collapse on inspiration

Inspiratory stridor that worsens when feeding/crying/supine —> improves when prone

Resolves by 18 months (poss GERD Tx whiles waiting)

Dx: Laryngoscopy: omega shaped epiglottis

Bacterial Tracheiitis

Severe Upper Airway Infection d/t Staph Aureus

Pt appears ill: Acute onset high fever, stridor and significant resp distress

Subglottic narrowing and ragged tracheal air column

Vascular ring: Biphasic stridor that improves with neck extension

Great vessels encircle and compress trachea

Airway hemangioma:

Hemangioma enlarge in fisrt few wks of life

Worsening biphasic stridor, concurrent Skin hemangiomas (beard distribution)

Acute Rhinosinusitis

Viral: Tx: Supportive

Bacterial : Nontypeable Haem Influenzae; Strep Pneu; Tx: Antibiotics: AmoxiClav

Paediatric Obstructive Sleep Apnea D/t adenotonsillar hypertrophy

Night Sx: Loud snoring; apnea; Enuresis, parasomnias

Day Sx: Mouth breathing; nasal speech (adenoids block nasal passage)

Complications: Poor growth; poor academic performance; Cardiopulmonary

Management: Tonsillectomy & Adenoidectomy

Adenoid Hypertrophy

MCC of persistent nasal obstruction in childhood

Nasal congestion refractory to medical management

Hx suggestive of upper airway obstruction:

Recurrent sinus/ear infections, mouth breathing, sleep disturbance/snoring d/t apnea

Mucopurulent nasal discharge, post nasal drop and elongated/flattened facial features suggestive

==> changes in structure of palate, jaw teeth alter facial features

Concurrent tonsillar Hypertrophy common

Posterior Urethral Valves

Newborn boys only

Anterior midline mass (distended bladder) -> Anuria in first few days of life

Weak urinary stream, grunt or strains as they try to pass urine

Dx: Renal and Bladder US -> Voiding cystourethrogram if US abnormal

Tx: Catheterise first then surgery

Hyposthenuria

Inability to concentrate urine —>>> nocturia and polyuria

Sickle cell Trait/Disease

RBCs sickle in medulla (hypoxic) vasa recta impairing countercurrent exchange and H2O reabsorp

Normal serum sodium d/t intact ADH

Urinary diluting capacity unaffected as done in superficial Loop of Henley (not medulla)

SCT: Mild, no tx —> most common issue is hematuria (d/t papillary necrosis);

UTI

Constipation is a predisposing factor

Girls and uncircumcised boys

Fever, fussiness, poor feeding and decreased urine output

Tx: Third Gen Cephalosporin or aminoglycosides

Children <2 yrs increased risk for complications from UTIs —> renal scarring/damage, HTN

——>> tx with 1-2 wks third gen cephalosporin

All children under 2 with first febrile UTI need renal and bladder US —-> Check anatomy

Voiding cystourethrogram indicted:

Abnorm US

2 febrile UTIs

First febrile (>39) UTI from organism other than E Coli

SIGNS OF CKD: poor growth, HTN

2 months old!

Vesicoureteral reflux in children Febrile UTI

Renal US: Hydronephrosis

Voiding cystourethrogram gold standard dx: dilated collecting system

Tx: Antibiotic prophylaxis; Surgery if persistent

Recurrent UTIs: Fibrosis of renal interstitial space in wedges

Isolated proteinuria in a child is usually benign ==> transient or orthostatic proteinuria

Transient proteinuria

D/t fever, exercise, stress or vol depletion ==> variations in glomerular blood flow

Orthostatic proteinuria: Most common in adolescent boys

Absent proteinuria after prolonged recumbency ie morning

Evaluation of isolated proteinuria: First morning Protein/Cr ratio once pt is well

==> DDX between transient and orthostatic

—> Positive test —> evaluate for renal disease

Wilms Tumour: Hematuria in 25%

CHARGE Syndrome

Coloboma

Heart defects

Atresia choanae (nares) -> Cyanosis at rest/feeding and improves with crying

Retardation of growth/development

Genitourinary abnormalities (cryptoorhidism)

Ear abnormalities eg hearing loss or aesthetic

Additional Features: Anosmia; Cleft lip/Palate; Hypotonia

Dx: Clinical or CHD7 gene testing

TEF w Esophageal atresia Associated w CHARGE syndrome

McCune-Albright Syndrome: Mutation in GNAS gene: constant G Protein activation

Irregular cafe au lait (Coast of Maine) macules

Fibrous Dysplasia of bone: Fractures —> bone replaced by fibrous CT

Overproduction of pituitary hormones

Periph Precocious Puberty, acromegaly, Cushings, thyrotoxicosis

Turner syndrome

Congenital lymphodema (non pitting) -> swelling of hands and feet

Cystic hygroma and fetal hydrops can occur if severe obstruction of lymph vessels

Noonan Syn like M version (although can be seen in F)

Refeeding Syndrome

Carbohydrate stimulates insulin ——>>>> promotes cellular uptake of PO4, K and Mg

Arrhythmias and congestive HF; Weakness, rhabdo; Diarrhoea and elevated LFTs; Tremor, seizure

WAGR Syndrome/11p13 deletion syndrome

Wilm’s tumour (nephroblastoma) ——>> bilateral and present earlier in WAGR syn

3 monthly abdo screening in early childhood however ESRD common

Aniridia

Genitourinary abnormalities

Retardation

Thyroglossal Duct Cyst

Foramen cecum (base of tongue) to base of ant neck

Midline cystic mass (retained epithelium) —> moves superiorly with swallowing/tongue protrusion

Often presents post URTI

Associated with ectopic thyroid tissue

Tx: Thyroid imaging as ectopic tissue may be only functioning thyroid tissue -> Surgical resection

Congenital Vascular Malformation

Malformations in aortic arch system that encircle trachea and/or oesophagus —-> compressive sx

—> severe solid food dysphagia: presents after liquid milk diet changed around 6 months old

—> food impaction at level of aortic arch (T3-4): seen on fluoroscopic esophagography

Pneumonia d/t aspiration

Tracheal compression—>>> biphasic stridor

CT delineates anatomy forming vascular ring

Poss concurrent cardiac/airway abnormalities —> pts need laryngoscopy, bronchoscopy and echo

Tx: Surgery

VACTERL

Vertebral

Anal atresia

Cardiac

Tracheooesophageal fistula

Renal

Limb

Thymus: Sail sign normal in <3 yrs: absence concerning

Duodenal atresia: VACTERL and Downs

Fetal Hydrops: High Output HF

Increased fluid movement into interstitial Sporades (third spacing)

Severe fetal anaemia —> increased CO to try to compensate

Parvovirus; Aneuploidy; CV abnormalities; Thalassaemia; Rh(D) alloimmunisation

Child Abuse

Bruises/fractures at various stages of healing

Femur fracture in nonambulatory child

Posterior rib fractures

Metaphysical corner fractures (bucket handle fracture)—> d/t forceable pulling/twisting

Retinal and subdural hemorrhages

Management: Skeletal survey; CT Head; fundoscopic exam

Galactosaemia: Deficient G1P-uridyl-transferase

G1P accumulates —->> damages kidney, liver, brain

Mental retardation, direct hyperbilirubinaemia and jaundice, decreased glucose

Vomiting and poor feeding/failure to thrive

Metabolic acidosis; Cataracts; Increased risk for E Coli sepsis, seizures

Decreased Glucose; Urine nonglucose reducing substance —> galactosuria

Dx: New born screen (results not available in first wk of life); Absent RBC GALT activity

Tx: Galactose elimination (soy based formula)

Colic

Crying for no apparent reason for >3 hrs a day for > 3 days a week

Otherwise healthy infant age < 3 months

Crying usually occurs around same time each day

Parents have difficulty consoling child only at this time Dx of exclusion

Tx: Reassurance and review of soothing techniques

Viral Myocarditis

Coxsackie B; adenovirus

HF; Resp distress (d/t L HF and pulm oedema); holosystolic murmur;

S3 and hepatomegaly (congestion); cardiomegaly

Tx: Supportive (diuretics and inotropes); IVIg

Breath holding spells

Norm 6 months to 5 years

Cyanosis or pallid variant —> both have LOC

No palpable pulse

No pupillary light response

Eyes deviate upwards conjugately

Osteogenesis Imperfecta

Type 2 is lethal; > 90% AD (Type 1)

Type 1 Collagen gene (COLA1) defect: Continued bone turnover and decreased bone volume

Type 1: Frequent fractures; blue sclera (sclera thinning—> underlying bvs); Joint hypermobility

Conductive hearing loss; Dentinogenesis imperfecta (discoloured teeth d/t dentin exposure)

Congenital Torticollis

Neck mass; ipsilateral head tilt; contralateral chin deviation

Postural deformity in which SCM is fibrosed —> ——-> positional plagiocephaly (flattening)

Intrauterine crowding (breech; multiplies; oligohydramnios)

Associated with hip dysplasia and clubfoot

Tx: Positioning, passive stretching and PT

Metatarsus Adductus

Medial deviation of forefoot only; Flexible foot; Resolves spontaneously

Clubfoot

Medial deviation of forefoot AND hind foot; Rigid foot

Tx: Serial manipulation and casting; surgery

Cerebral Palsy (CP)

Non progressive motor dysfunction

Delayed gross motor milestones

Abnorm tone; Spastic CP most common subtype -> hyperreflexia and hypertonia:

Most commonly affects legs (spastic diplegia)

Feet may point down and inward (eqinovarus deformity)

Commando crawl d/t contracture of legs

More likely to have periventricular leukomalacia and intraventricular haemorrhage

White matter necrosis d/t ischeamia/infection

Perinatal hypoxic-ishaemic encephalopathy can lead to CP as can bacterial meningitis

Dx usual established by age 2 -> Clinically

Brain MRI to check basal ganglia lesions and periventricular leukomalacia

Subtypes: Spastic; Dyskinetic (involuntary movement); Ataxic (incoordination)

Meningitis Etiologies

MCC: Strep Pneumo —> H Flu——> N Men

CSF Analysis:

Bacterial meningitis: Glucose <40 Protein >250. WBC >1000. (Neutrophils)

Viral Meningitis: Glucose 40-70 Protein <150. WBC 10-500 (lymphocytes)

TB/Fungal meningitis: Glucose <10. Protein >250. WBC 5-1000 (lymphocytes)

OPISTHOTONUS Position: Severe hyperextension of head, neck and spinal column

Bulging Fontelle, Seizures, Crying

Bacterial Meningitis: bulging fontanelle after 3 months

Complications:

Sensineural hearing loss (most commonly post strep Pneu) d/t inflamm of cochlea and/or labyrinth

Not apparent immediately

Viral meningitis: Most d/t enterovirus eg Group B Coxsackie (infants/young kids)

Subgaleal Hemorrhage: rupture of emissary veins upon scalp traction during delivery

More frequent in vacuum assisted deliveries

Sugaleal space extends from orbital ridges to nape of neck and level of ears

Swelling shifts with movement and expands over 2-3 days

Can progress to hypovolemic shock and DIC

Tx: Supportive -> Volume resuscitation and coagulation correction

Caput Succedaneum: Edema that crosses suture lines Above periosteum Prolonged fetal head engagement/operative delivery

Cephalopelvic hematoma: Does not cross suture line

Subperiosteal and fluctuant

Calcifications may occur -> nodule

VITAMIN K Deficiency: Poor placental transfer -> Infants receive routine IM injection at birth

Early Onset (<24hr) d/t maternal medications: anticonvulsants Decreased Factors 2,7,9 and 10 ——> same in CF Kids with malabsorption

Newborn, born at home, comes in with bleeding umbilical stump and bleeding diathesis

Tx: FFP acutely + Vit K shot

Myelomeningocele: Most common NTD

Failure of neural tube closure —> protrusion of meninges, CSF and spinal cord through skin

Severe neurological deficits distal to lesion: Paralysis; Incontinence

CSF lost through open neural tube —->> cranial structures collapse —->> small posterior fossa

Associated with Chiari II Malformation:

Inferior displacement of medulla & cerebellum through foramen magnum

Obstructive Hydrocephalus: enlarged head circumference and full fontanelle

—> head circumference crosses 2 percentiles over a few months

Acute post infectious Cerebellar ataxia

MCC of ataxia in children -> Often follows 1-3 after viral infection

Werdnig Hoffmann Disease (infantile spinal muscle atrophy)

Generalised sym proximal muscle weakness and hyporeflexia

Does not affect pupils (cf botulism)

Weakness greater in legs than arms -> Decreased or absent DTRs

Flaccid paralysis; tongue and finger fasciculations; flaccid frog like posture

Restrictive resp insufficiency

Dx: Molecular genetic testing (SMN1 gene) —> degeneration of ant horn

Px poor

Idiopathic Intracranial HTN

Prepubertal: Vision abnormalities predominate

More common in obese F of childbearing age

Vision Loss: Enlarged Blind Spot; Pulsatile Tinnitus; Diplopia; palsy of CN6 Blurry Vision that does not improve with Refraction ->Optic Disc appears elevated with blurry margins

Dx: Neuroimaging and LP: Elevated Opening P

Risk Factors: Medications: Tetracyclines, Retinoids, Growth Hormone

Tx: Acetazolamide and Weight loss

Amblyopia: Cortical blindness (permanent)

D/t Strabismus; congenital cataracts/ptosis (vision deprivation) or asymmetric refractive error

->>> turn off cortical input during development

Dx is clinical

No tx but preventative:

Cycloplegic drops to blur good eye/patch——>> encourages use of amblyopic eye

Corrective lenses; removal of cataracts etc

Strabismus (ocular malalignment): Lazy eye

Causes: Idiopathic (most); intraorbital mass; increased ICP

Dx: Clinical -> Asymmetric corneal light and red reflexes

Dilated funduscopic exam to assess secondary causes particularly retinoblastoma

Tx: Congenital disease fixed by surgery (must be within 6 months)

Acquired ——>>> patch good eye (let the bad eye catch up)

Glasses if problem refractory

Congenital Cataracts

TORCH infection if present at birth

If develops soon after birth: Inborn error of metabolism eg galactosaemia

Cloudy milky white FRONT of eye (frontal leukocoria)

Esotropia form of strabismus-> inward eye; d/t central vision loss

If white in back of eye: Retinoblastoma

Retinoblastoma: Rb gene

Leukocoria (white puppilary reflex) -> No red reflex ——>> all white retina

Strabismus, nystagmus, Vinson impairmat and ocular inflamm also poss

Dx is clinical but confirmed by MRI of brain and orbits —> no biopsy d/t risk of tumour seeding

Tx surgical (avoids metastasis to other eye)

Do not do radiation as acts as second hit for other eye

Osteosarcoma associated: Risk starts at puberty

Retinopathy of Prematurity

Premature babies given high levels of FiO2 -> Growths on retina

Tx: Laser ablation

Associated with bronchopulm dysplasia; intraventricular haemorrhage; necrotising enterocolitis

Neonatal Conjunctivitis

Days 1-3: Red Conjunctiva and tearing

—->> chemical conjunctivitis d/t silver nitrate drops (uncommon as we now use erythromycin)

Days 3-5: Bilateral purulent Conjunctivitis

—> Gonococcal —>. Can cause corneal ulceration

Tx: Topical erythromycin and IM third gen Ceph

Days 7-14: Red conjunctiva with mucoid discharge and lid swelling; starts unilateral

—> chlamydia —> risk of chlamydia pneumonia: cough, nasal discharge, bilat infiltrates

Tx: Oral erythromycin

Azithromycin preferred in infants <1 month d/t pyloric stenosis risk with erythromycin

HERPETIC: VESICLES

Visual acuity screening

Age 4 and routinely at every well-child visit

Upper Airway Obstructions:

Epiglottitis

Non infectious causes in kids:

Thermal burns; Foreign Body Ingestion; Caustic Ingestion (Bleach)

Complication of immune mediated response eg BM or Organ Tranplant

Acute Onset noisy breathing: Inspiratory strider -> Swelling reduces calibration of upper airway

Sudden onset high fever appear TOXIC

3Ds:

respiratory Distress (feels like choking)

Drooling

Dysphagia

Change in voice quality: Muffled ‘hot potato’ voice; TRIPOD posture

Dx: Lateral neck X-RAY -> Not needed if suspicion high

Thumbprint Sign: enlarged epiglottitis projecting from anterior wall of hypopharynx

Loss of airspace

Gold Standard: Laryngoscopy (only do if airway can be immediately secured)

Management

Intubate (2-3 days) unless older and non toxic

Blood and epiglottic culture prior to antibiotics

IV Abs: third gen cephalosporin (Hib, Strep and Staph) and Vancomycin/Clindamycin (MRSA)

Peritonsillar Abscess (PTA)

Usually post pharyngitis/tonsillitis (most common deep neck infection)

MCC GAS

Severe unilateral throat pain and unilateral LAD

Odynophagia, dysphagia, fever, muffled hot potato voice and drooling

TONSILLAR MASS W DEVIATION OF UVULA (cf RPA)

Dx primarily clinical

Tx: Drainage (bedside aspiration) and Abs:

Tonsillectomy if refractory or recurrent or hx of sleep apnea

Retropharyngeal Abscess (RPA): more severe!!!!!!! Pus in potential space between posterior pharyngeal wall and prevertebral fascia

——>>>> widened prevertebral space

Torticollis: painful stiff neck, unwilling to extend

Ill appearing; Hot potato voice

Late Finding: Inspiratory Stridor, tachypnea and resp distress

Dx: CT neck with contrast best!

Lateral neck X-RAY: Widened prevetebral space (More than half width of vertebral body)

Soft tissue mass, air fluid level or gas in prevertebral area

Tx: Surgical Drainage ; IV Abs

Both are polymicrobial: GAS, MSSA, MRSA and anaerobes

Sore throat in both

Cervical LAD and/or tender neck mass

Trismus (inability to open mouth) d/t spasms of internal pterygoid muscle: more in PTA

Complications:

Lemierre’s Syndrome

ACUTE necrotising Mediastinitis: CXR shows widened mediastinum

—> odonyphagia, chest pain, fever and SOB; Life threatening

Retropharyngeal space communicates

—-> MEDIASTINUM

—> carotid sheath thrombosis: CN9-12 DEFICITS

Dermoid Cyst

Midline Cystic mass with trapped epithelial debris

No displacement with tongue protrusion

Bronchial Cleft Cyst

Lateral -> Ant to SCM

Most often located between carotid arteries

MAC Lymphadenitis

Lateral neck mass; Necrotic nontender LN

Violaceous discolration of skin

Tx: Rifampin and azithromycin

Acute unilateral cervical lymphadenitis

MCC: Staph and Strep

Anaerobes associated w periodontal disease

Enlarged erythematous tender cervical node +/- fever/abscess

Tx: Clindamycin; AmoxiClav

Incision w drainage if abscess

Premature infants should be immunised according to chronological age

Doses not adjusted for preterm/ low birth weight except Hep B

Hep B cannot be given to premature infants weighing less than 2000g

Hep B: Vertical Transmission

If mother is hep B positive infants should receive Ig and vaccine within 12 hrs of birth

(even if premature but this does not count towards first dose in 3 series if <2kg)

Rotavirus

Vaccine must be started before 15 wks of age and be completed by 8 months

Safety of first dose in older infants not known

CI to vaccine: anaphylaxis to latex and SCID

DTaP (acellular Pertusis)

Risk of febrile seizure (pertussis component) : not a CI for further doses

Encephalopathy within 7 days of prev dose is CI as is anaphylaxis

Hib

CI: Hx anaphylaxis to latex

S. Pneu

Pneumococcal Conjugate Vaccines: Inactivated

PCV 13: Protein conjugated polysaccharides from 13 serotypes

T cell dependent response d/t protein conjugation

PPSV 23: 2 dose series

First dose given at least 8 wks after completion of PCV 13 series (~2 years old)

Second dose 5 years later

CI: anaphylaxis to any diphtheria toxoid contains vaccine

Poliovirus

Oral vaccine used in developing countries

Live vaccine used to control transmission, low dose and easy to administer

Small risk of vaccine associated paralytic poliomyelitis in recipients and their contacts

B cell deficient ppl have highest risk so CI in immunodeficiencies ppl

MMR

Can be given early if outbreak or international travel but early dose does not count towards series

CI: Anaphylaxis to gelatin or neomycin/streptomycin

Pts who have had IVIg/Ab containing blood product is within 11 months

Blunts host response to live vaccine

TB PPD test should not be done within 4 wks of vaccine as MMR May decrease sensitivity

Other live vaccines should be given on same day as MMR or 28 days later

Vaccine strain measles virus can cause fever and rash within 1-3 wks of vaccine (see VZV)

VZV

CI: immunodeficiency and IVIg/Ab contains blood products

Avoid salicylates for 6 wks after as association with Reye syndrome

Generalised varicella like rash within 1 month, avoid immunocompromised ppl until rash crusted over

——> d/t rep of attenuated virus (mild infection w <10 vesicles) OR

WILD type virus acquired before vaccine taken effect (Abs developed)—> >100 vesicles

Development of rash Not CI to future vaccination

Chicken Pox in kids -> supportive unless immunocompromised!

Hep A: Humans only known reservoir

Influenza: Annually >6 mo

Inactivated quadrivalent IM

(<2 years old, asthma, medical conditions making them high risk of complications)

CI: Egg allergy! Also CI for yellow Fever vaccine

Live attenuated quadrivalent intranasally (Flumist): >2 years

CI: recent salicylates, antivirals within 48hrs, immunosuppression

Meningococcal -> inactivated

Ethiopia is meningitis Belt

Number of wet diapers should equal at least infant age eg 4 days -> 4 wet diapers

Necrotising Enterocolitis

Syndrome of ischemic bowel necrosis —-> infarction

ENTERAL FEEDING (formula riskier cf breast milk)

Feeding Intolerance: Irritability, vomiting, gastric residuals post feeds

Vital sign instability (eg hypothermia); lethargy; bilious emesis w bloody stools

DX: Plain Abdo X-RAY: PNEUMATOSIS INTESTINALIS: bubbles of gas in bowel wall

Pneumperitonuem; Portal venous gas

Management: Bowel rest; parental nutrition; broad spec IV Abs +/- surgery

Testicular Torsion

Insufficient fixation of testes to tunica vaginalis

Absent cremasteric reflex (can be norm in neonates)

Pain increases/does not resolve w elevation of testes (Negative Prehn sign)

Peritoneal signs w ovarian torsion only

Dx: Doppler US

Sickle Cell Crisis

Vasoocclusive Pain -> Can start at 6 months of age

Abdo pain d/t bilirubin gallstones; Renal infarction: Flank pain

Dx: Hb electrophoresis if >3-4 months of age

Primary bacterial peritonitis

Infection of ascites fluid -> Prerequisite is disorder that causes ascites: Nephrotic Syndrome

Fever and diffuse abdo pain

Dx: paracentesis -> gram stain

Ectopic pregnancy

Hx STIs is a risk factor inc PID

Abdo pain and vaginal bleeding

Benign Bone Lesions

Osteochrondroma (potential for malignancy)

Sharply demarcated margins

Periosteal reaction: uninterrupted periosteum

Soft tissue mass not present

Non ossifying fibroma

Most common bone lesion

Multiloculated lesion with sclerotic rims

Pathological Fractures ——->>> fibrous tissue weakens bones

Bone Cyst

Fluid not bone -> Pathological Fractures

Tx: Inject with steroids (causes new bone to form) or use prosthetic bone

Malignant Bone Lesions

Sunburst: Inflamm of Periosteum

Codman triangle: triangular area of new subperiosteal bone that is created when a lesion raises

periosteum away from the bone (also seen in sub periosteal abscess)

Onion skin (multilayer/lamellated) periosteal reaction: D/t areas of variable growth

Motheaten pattern of bony destruction cf geographical (sharpely defined borders)

Soft tissue extension

Osteosarcoma: Most common bone malignancy in kids

Metaphysis (contains grown plate) of lone bones: Femur (most common)

Rapidly metastasises to lungs -> Alk Phos increase shows likelihood of pulmonary metastases

Perisoteal disruption precedes swelling

Systemic features uncommon

Palpable mass (may be tender,warm)

Increased overlying vascularity, pulsation, bruits ———->>> tumours v angiogenic!

LDH increased in high cell turnover ——->>> aggressive tumours

Poor response to radiotherapy

Ewing’s sarcoma (ew …onion!)

Second most common paediatric bone malignancy

Primitive neuroectodermal tumour

Long bones (Femur most common) and Flat bones: Pelvis, Spine and Ribs

Back pain: paraspinal, retroperitoneal or deep pelvic tumour

Systemic features more common ie Fever and raised ERP

Palpable mass (may be tender,warm)

Increased overlying vascularity, pulsation, bruits

Alk phos not raised

LDH increased in high cell turnover ——->>> aggressive tumours

Responds significantly better to radiotherapy cf osteosarcoma

X-ray: Central lytic lesion w moth eaten appearance; Onion skinning; Periosteal elevation (Codman)

Tx: Chemo; surgical resection +/- radiotherapy

Types of Limp

Neuropathic: High Stepping

Short Leg: Circumferential gait; invert foot on shorter leg to lengthen leg

Causes: Cox Vara; Referred pain of Appendicitis

Transient Synovisitis: PAINFUL LIMP

Self limiting inflamm of synovium of capsule of hip joint (1-2wks)

Ages 3-6 years

Dx of exclusion: Always unilateral

Child generally well and afebrile, no hx of trauma; Mildly raised/norm inflamm markers

May have preceeding viral illness

Limited movement of Abduction/ Internal Rotation but Can bear weight

Positive Log Roll (Muscular guarding)

Dx: Radiography only indicated if suspicion of other pathology —> eg if pt cant ambulate

Tx: symptomatic eg NSAIDs, Acetaminophen and Rest

Developmental Hip Dysplasia

Without alignment there is less stress and decreased ossification ———>>> increased radiolucency

RF: BREECH; Fam Hx; Female; Torticollis/Fixed foot deformity (indicate decreased room in womb)

Screening: Baby Checks

Asymmetrical gluteal/thigh skin folds; Limb length discrepancy

Barlow Test: Used to identify unstable hip that can be passively dislocated -> Ortolani Test:

Dx: US

Management: Pavlik Harness for 24hrs/dy for up to 6 months

-> Holds hip in flexion and abduction (closest alignment)

If Dx too late: already ossified: Surgical Reduction

Complications: Avascular Necrosis of Capital Femoral Epiphysis

Premature Degenerative Joint Disease

Septic Arthritis (in infants)

Can’t bear weight; lack of movement (pseudoparalysis); irritability with repositioning

Asym swelling

Pts often lie with hip flexed, abducted and externally rotated to maximise joint space

D/t Staph usually

Dx: Arthgrocentesis -> Radiography to assess joint damage

MMPs strip cartilage so predispose to degenerative joint disease later in life

———>>>> Joint wash out, IV Abs and Fluids

Tx: Vanc and Ceftriaxone (GNs)

Legg-Calve-Perthes Disease (idiopathic necrosis of femoral epiphysis): progressive pain

Stages:

1. Disruption of blood flow to head of femur

Issue when supply switched from lig of teres to medial collateral femoral artery

2. Osteonecrosis/Avascular Necrosis (lucency)

3) Neovascularisation:

Loss of bone mass; Weakened femoral head

4. Reossification and remodelling

Atrophy of proximal thigh muscle

Dx: radiological imaging: X-RAY: AP and frog leg lateral films

Devascularisation around capital femoral epiphysis (CPE); Flattened femoral head

Fragmentation/collapse of CPE (more radiolucent)

Tx: Usually mobilisation and monitoring

Osgood-Schlatters Disease: ATHLETES!!

Inflamm and small avulsion fractures of patella tendon insertion of tibial tuberosity (apophysis)

Disorder of overuse: More prevalent in athletes

Children 9-14 who have undergone rapid growth spurt

Pain and swelling of anterior/inferior knee

Pain exacerbated by: Kneeling and Activity; relieved by rest

Tenderness and soft tissue/bony prominence at site of tibial tubercle

Reproducible pain by stressing quadriceps

Other movements eg straight leg raise are painless

Dx: clinical

Tx is conservative -> Pain control, physio etc

Slipped Capital Femoral Epiphysis (CPE): OBESITY!

Endocrine Disorders: Hypothyroid etc —-> tend to present earlier eg age 10

Rapid growth: increased shearing forced d/t change in angle

Slippage of overlying end of femur (metaphysis) -> Testosterone weakens Metaphysis

Waddling gait

Affected leg externally rotated (during passive hip flexion test) d/t dominant muscles

—-> feet point laterally

Mimics neck of femur fracture

Decreased range of motion and unable to bear weight if severe

Acute if <3wks otherwise chronic

Dx: Bilateral AP and frog leg view plain radiographs (X-RAY)

Tx: Cannulated screw (dynamic)

Complications: Avascular necrosis; OA; Chrondrolysis

Polyarticular Juvenile Idiopathic Arthritis: Limp worse in morn Pain may be absent/minimal; swelling and limp

Hip rarely affected (knees and ankles common)

Systemic: Arthritis; Quotidian fever; evanescent rash, hepatosplenomegaly; LAD

Polyarticular: May be complicated by uveitis (irrev vision loss)

Oligoarticular: most common; risk of uveitis (irrev vision loss)

Enthesitis related forms

Tx: NSAIDs in mild: <4 joints w/p systemic sx

Methotrexate/Leflunomide if no improvement/ >4 joints with systemic sx

Patellofemoral Syndrome

Also overuse: runners/cyclists common

Anterior knee pain; exacerbated by pressing patella

More common in F

Tx: Physio of quads

Juvenile Rheumatoid Arthritis

2 wk Hx of daily fevers and salmon coloured evanescenct rash on trunk, thighs and shoulders

Swollen knees

Good Px Factor: ANA+

Bad Px Factor: RF+; also polyarticular and older age at onset

Tx: NSAIDs > Methotrexate > steroids

Genu Varum (bow legs)

Physiological until age 2 d/t expected lower extremity alignment changes

Symmetric bowing w norm stature; no leg length discrepancy

Blout disease: abnorm cartilage growth that causes pathological bowing

—> asym bowing, leg length discrepancy and lateral thrust with ambulation

Genu Valgum (knock knees)

Physiological until age 7 (2-5)

Nurse maids elbow (radial head subluxation) ## Dx: Clinical

Tx: Hyperpronation of forearm (closed reduction)/Forearm supination w elbow flexion (more painful)

Measles (Rubeola) 3Cs: Cough, Coryza, Conjunctivitis

4 Stages:

Incubation: 1-3 wks

Prodrome: Fever and 3Cs

Exantham: Erythematous maculopapular rash starting on face——>>trunk/extremities

High fever and Pharyngitis

Recovery: Desquamation and rash fades in order it appeared (head downwards)

Koplik Spots on buccal mucosa opposite molars: ‘grains of salt’ on a red background

Complications:

Most common: Diarrhoea and OM

Most common cause of death: Pneumonia *(giant cell in immunocompromised)

Encephalitis

Subacute Sclerosing PanEncephalitis (SSPE): 7-10 yrs after infection

Dx: Serologic testing (IgM); virus RNA by RT-PCR

Tx: Supportive if uncomplicated (antipyretics, fluids and antibiotics if super infections)

Vitamin A helpful if severe; Ribavirin if high risk mortality

All cases must be reported

Rubella

Relatively benign if contracted postnatally

Erythematous maculopapular rash that spreads MUCH MORE RAPIDLY cf measles

Low grade fever; Polyarthritis although uncommon in kids; Thrombocytopenia

Complications rare but include encephalitis

Post cervical, auricular and suboccipital LAD hallmark sign

Forchheimer Spots: Rose coloured spots on soft palate (unique to Rubella)

Dx: Serologic IgM assay

Tx: supportive

All cases must be reported

Parvo B19 (Erythema Infectiosum, Fifths disease) -> Slapped Cheek

Mild nonspecific systemic symptoms: Fever, coryza, headaches, myalgias

Erythematous Malar rash on with circumpolar pallor -> gradually fades into lacelike reticular rash Spares palms and soles

Rash often recurs with exposure to sun, changes in temp, exercise and stress

Arthralgias (more common in adults)

Aplastic Crisis: Loss of erythroid progenitor cells (minimal effect in healthy pts)——> severe anaemia

Reticulocyte count reduced esp in those with high turnover or decreased RBC production

-> Sickle Cell, Thallassaemia, Spherocytosis and Iron deficiency anemia

Dx: Serologic IgM and IgG

Tx: supportive with NSAIDs and antihistamines

RBC transfusion may be needed in aplastic crisis

Roseola infantum (Sixth Disease)

D/t HSV6

HIGH FEVER up to 104F for 3-5 days (abruptly resolves) followed by diffuse maculopapular rash

Asymp shedding of virus in secretions of close contacts (shedding life long)

Rash first appears on TRUNK before spreading to face/extremities

LAD: Post cervical, auricular and suboccipital

Tx: Supportive eg antipyretics for fever if causing discomfort

Pityriasis Rosea

Benign and self limited

Christmas tree distribution rash caused by unknown virus

Oval erythematous papulosquamous lesions on trunk/proximal extremities

Initially presents with Herald Patch on trunk/neck

Secondary eruption occurs: smaller multiple lesions ——>>> Christmas Tree

May be pruritic

Residual post inflamm hypo/hyperpigmentation

Tx: Supportive: Antihistamines, skin lubrication and topical corticosteroids

Molluscum Contagiosum

Pox virus; Human reservoir only

Clusters of pruritic, pearly, umbilicated, flesh coloured papules

Spread by direct contact and formites (contact sports and swimming pools)

Autoinoculation and koebnerisation (linear spread d/t scratching)

Preference for areas of skin rubbing: antecubital fossa, popliteal fossa, axillary, groin

Spares palms and soles

Complicated by secondary bacterial infections

Eosinophilic cytoplasmic inclusion bodies on H&E STAIN

Tx not needed but may be used to limit its spread/transmission:

Cryotherapy, curettage, topical blistering agent (eg cantharidin)

Hand-Foot-Mouth Disease

Coxsackie A16 virus (enterovirus) -> Also causes Herpangina

Summer and autumn normally

Oral enanthem consisting of vesicles and painful ulcers: mouth/throat pain

Non painful maculopapular rash on hands and feet (and arms/legs)

Lesions on buttocks in infants and young kids

Lesions start as macule-papule ——>>> progress to vesicles

—>> rupture to form ulcers with grey-yellow base (palms/soles)

Herpangina: Lesions w/o RASH

Abrupt onset of high fever + gray vesicles and painful ulcers posterior oral cavity:

Headache, neck stiffness, n/v, abdo pain

Evolution of lesions similar to HFMD but no rash

Late Summer/early fall

Tx: Supportive with ibuprofen/acetaminophen; Can go to school

Herpetic Gingivomastitis

Clusters of vesicles localised to ant oral cavity

—> buccal mucosa, tongue, gingiva and hard palate

Mumps

Parotitis but no rash; HA

Winter and early spring

Fever and unilateral or bilateral facial swellings

Prodrome of fever, headache, malaise and myalgias for a few days

Complications: Orchitis/ Oophoritis; Aseptic meningitis

Sensorineural hearing loss (can be permanent)

Parotid gland not normally palpable, can obscure angle of mandible in mumps

Parotid duct opposite 2nd molar also swollen

Tx: Supportive: Ibruprofen and acetominophen with cold compresses

APGAR SCORE: norm 7 —-> if <7 more aggressive measures for 30 min (Assessment for 30s)

HR >100. 2

Withdraw from stimulus 2: (grimace gives 1) —->> IRRITABILITY

Crying. 2

Colour. 1

Moving all limbs. 2

Routine Newborn resuscitation

Steps: Dry and stimulate

Clear airway (suction) as needed

Provide skin warmth (eg skin-to-skin) —> also helps initiate breast feeding

Early breastfeeding decreases risk of hypoglycaemia and hyperbilirubinaemia

Routine Newborn Care

IM Vit K

Erythromycin eye ointment

Hep B Vaccine

Screening: Metabolic/genetic disorders

Hyperbilirubinaemia

Hearing test

Pre and post Ductal pulse oximetry (congenital heart disease)

Hypoglycaemia (select populations)

Erbs Duchenne palsy (upper lesion) ->C5-6 -> Should resolve

Klumpke is C8- T1 (lower lesion) -> Unopposed wrist extension and claw hand

Clavicle fracture: No tx; forms a callous within a wk; can use figure of 8 splint

Crepitus

Mongolian Spots: Cong dermal melanocytosis

Blue/slate grey macule on buttock/thigh

Melanocytes arrested within dermis

Benign: Fades spontaneously within first decade

Nevus Simplex (Salmon Patch)

Not raised cf hemangioma

Facial ones tend to disappear

If on neck (nuchal) tend to persist —>> redden if kid gets angry/does sports

Miliaria

Blockage of eccrine glands -> heat rash

Firm white papules -> Filled with keratin

Seen on day 1

Neonatal acne shows in wk 1/2 (don’t confuse!)

Erythema toxicum neonatorum

Asym Firm yellow/white papules—> pustules on erythematous base

Eosinophils

Resolves spontaneously

Keratosis pilaris : Back of arms

Strawberry (infantile) Hemangioma

Sharpely demarcated, raised lesion

Regress spontaneously by age 5-8

Neonatal acne -> High maternal androgens circulating; Wk 1/2

Nevus Sebaceous

Area of alopecia

Skin orange coloured and nodular

Removed before adolescence as risk of malignancy

Seborrheic Dermatitis (Cradle Cap)

Thick, yellow/white oily scale -> Mild shampoo/anti fungal

In adults only tends to occur in pts with HIV/AIDS

Neonatal Screen: Deficient Phe Hydroxylase

Mental retardation, vomiting, seizures, developmental delay over first few months

Fair hair, eyes, skin, musty smell

Neonatal HSV

3 Types: Vesicular Clusters on skin, eyes, mucous membranes

CNS Infection

Fulminant disseminated multiorgan disease

Dx: Viral DNA testing

Tx: Acyclovir

Cryptorchidism

Associated with Prune Belly Syndrome

Testes usually in inguinal canal -> if not in inguinal canal: US

Surgery if not descended by 1 year to avoid sterility/cancer (doesn’t decrease cancer risk)

Hypospadias

Urethral opening on ventral surface

Do not circumcise —->> foreskin used in repair

Management: urology evaluation for surgical correction

Congenital Adrenal Hyperplasia

Ambiguous genitalia

Vomiting and hyponatremia with hyperkalaemia and acidosis

Most Common cause is 21 hydroxylase deficiency (AR)

Definitive test: 17 OH Progesterone before and after ACTH bolus (cosyntropin stimulation)

Tx: Hydrocortisone and fludrocortisone (increased doses in times of stress)

Neonatal Sepsis:

Empiric Tx: Amp + Gent until cultures are negative for 48hr

Cefotaxime + Amp if meningitis suspected

TORCH Infections

Syphilis

Maculopapular Rash (blueberry muffin)—>> palms and soles; desquamates/becomes bullous

Snuffles, Periostitis, Facial abnormalities, sabre shins

Jaundice and HSM d/t Fetal RES activation

Intracranial and intrahepatic calcifications

Tx: penicillin

Toxoplasmosis.

Preferentially targets fetal neural tissue -> Bilateral ventriculomegaly; Seizures; Intellectual disability

Hydrocephalus, intracranial calcifications, chorioretinitis

Fetal growth restriction, ascites and hepatomegaly +/- Blueberry muffin rash

Tx: Sulfadiazine + leucovorin

Rubella

Cataracts, deafness and heart defects (esp PDA and VSD)

Hepatomegaly and growth restriction

Extramedullary hematopoeisis: Blueberry Muffin Rash

No tx

CONGENITAL CMV : Most common congenital infection

Transmission via bodily fluid eg saliva/urine

Microcephaly, periventricular INTRACRANIAL calcifications (ie tissue necrosis),

Intrahepatic calcifications, ventriculomegaly, thrombocytopenia and petechiae;

HSM; chorioretinitis

LT Sequelae: Sensineural hearing loss; seizures; developmental delay

Tx: Gangciclovir (wont prevent mental retardation)

Dx: Urine culture

Congenital Varicella Syndrome

Mum infected in Tri 1/2

If exposed 5 days before delivery to 2 days post ——->> baby gets VZIG

Hydrops fetalis

Limb hypoplasia, club foot, cutaneous scars, cataracts, chorioretinitis, cortical atrophy

Varicella infection (non congenital) ## Prodrome

Maculopapular rash followed successive ‘crops’ of vesicles ===> in different stages

Dx: Viral DNA Testing

Tx: Acyclovir

Genetic Diseases and Syndromes

Klinefelters: Increased risk gonadal and breast malignancy

Neurofibromatosis 1 (AD)

Cafe au lait spots, seizures, large head

Axillary and inguinal freckling

Lisch nodules (iris hamartomas) and neurofibromas

Low grade Optic gliomas -> Can grow large enough to compress optic nerve

———>>> decreased visual acuity, altered colour vision, optic nerve atrophy and proptosis

NF2

Acoustic schwannomas

NO Cafe au Lait spots or axillary/inguinal freckling!

Pierre Robin Sequence

Bird Facies: Mandibular hypoplasia, glossoptosis, cleft soft palate

Also seen in Edwards and Fetal Alcohol Syndrome

Smith Magenis -> Self injurious behaviours

Broad, square face and Short stature

Prader Willi

Hypotonia, hypogonadism, hyperphagia; Skin picking, aggression

Deletion on paternal chromo 15

Angelman

Seizures, strabismus; Sociable with episodic laughter

Deletion on maternal chromo 15

Williams

Elfin appearance, friendly, increased empathy and verbal reasoning

Hyperacusia

Deletion chromo 7

Cornelia de Lange

IUGR, hypertonia, distinctive facies, limb malformation, self injurious behaviour, hyperactive

Fetal alcohol Syndrome Not dose dependent

Small palpebral fissure; facial dysmorphology: flattened (smooth) philtrum; micophthalmia, Microcephaly, thin upper lip (vermillion border), midfacial hypoplaisia

CNS abnormalities: Cognitive impairment; ADHD; Seizures

Most common cause of mental retardation

Fragile X Syndrome

Most common cause of mental retardation in boys

CGG repeats on X chromosome with anticipation

Microcephaly, macroorchidism, large ears

Waardenburg Syndrome

AD or associated with advanced paternal age

Short palpebral fissures, white forelock and deafness

Growth and Nutrition

Newborns lose 10% birth weight in first week —->> diuresis of extravascular fluid

Should regain birth weight by 2 wks and double weight by 6 months; treble weight by 1 year

CI to breast feeding:

Galactosaemia, PKU, HIV, HSV on the breast, chemo, Lithium, Iodide, Alcohol

Breast milk v Formula

Breast milk is whey dominant, more lactose, more LCFA, less Fe but this is better absorbed

Abnormal Growth

Constitutional GrowthDelay

Bone age < Real age -> Child likely to have norm adult height

Child small, always been small but parents tall and were ‘late bloomers’

Norm birth weight and height bit velocity slows between 6 mo and 3 years

—-> tracks on 5th to 10th percentile

Puberty and adolescent growth spurts delayed

Familial Short Stature

Bone age = Real age

Bone age > Real age

Obesity (d/t oestrogen)

Precocious puberty, CAH, neoplasm, Hyperthyroidism

Pathologic Short Stature

Kid falls off growth curve by 2 percentiles or more

Craniopharyngioma (vision issues, headaches, check CT w contrast)

Hypothyroidism (check TFTs); Hypopituitarism (check IGF1); Turners (check Karyotype)

Primitive Reflexes: Birth to 4/6 months

Moro -> When head extended arms and legs both flex

Grasp

Rooting -> Rub cheek and head turns to that side

Parachute -> Does not go away

When a fall is simulated, arms are extended

Similar to Moro but pick up baby lying on tummy

CNS origin of reflexes: Brainstem and vestibular nuclei

Developmental Milestones

2 months -> Social smile, starts to coo;

6 months -> Roll over; sit with support; crawl; stranger anxiety

9 months -> Sit unsupported; walk with hand held; object permanence

15 months -> Walk alone; build 3 cube tower and scribble with crayon

2 years -> 2-3 word sentences

Runs well, builds 7 cube tower; holds spoon; helps undress

2 1/2 years -> stand on 1 foot; knows name; refers to self as I

3 Years -> copies circle and can jump with both feet

4 years -> Copy cross and square; hop; throw a ball overhead; group play and toilet alone

5 years -> Skip; Copy triangle

Children under 6 have magical thinking and incomplete understanding of death

Potty Training

Urinary continence should be attained by 5 years

Primary Incontinence if never achieved

Tx of enuresis:

First line: Behavioural-reward system: pee before bed, bell alarm

DDAVP (desmopressin) or imipramine

Fecal continence should be attained by 4 years

MCC: Constipation; fecal retention

Tx: Disimpaction, stool softeners, high fibre diet

Behavioural modification: Post prandial toilet sitting (gastrocolic reflex)

Heart Disease

Never normal: DIASTOLIC or Anything >II/IV in intensity

Transposition of Great Arteries: No MURMUR

Cyanosis at birth -> O2 does not improve

Most common in diabetic mothers

Tx: PGE1 to keep PDA patent

Tetralogy of Fallot

Child gets hypernea and cyanosis whilst playing —->> squats down

VSD + RA Hypertrophy + overriding aorta (bet ventricles, lies over VSD); pulmonary stenosis

Associated murmur: HARSH systolic ejection murmur + single S2 (inaudible P2)

Tx: O2 and knee-chest position immediately; surgical correction eventually

——> position increases SVR and reduces shunting (as does squatting)

—> O2 stimulates pulm dilation (decreases PVR) and systemic vasoconstriction

Epstein Anomaly

Risk factor: mother on Lithium

Holosystolic Murmur: Tricuspid Insufficiency 2/2 TV displacement into RV

Associated arrhythmia: WPW

TRICUSPID atresia

Cyanosis at birth with holosystolic murmur

Depends on VSD/ASD to survive -> Give PGE1 until surgery

ECG shows LV Hypertrophy

Truncus Arteriosus. Associated with DiGeorge Syndrome

Eisenmenger develops early

—> CXR shows increased pulm blood flow and bi ventricular hypertrophy

Surgery needed in first few wks of life

VSD: NUMBER 1 Cong heart lesion

Harsh holosystolic murmur over L Lower Sternal border that decreases with Valsalva; loud P2

Most close within 1-2yrs -> If child <2yrs and asymp then wait it out

Dx: Echo

ASD: Loud S1 with fixed split S2

Older child with exercise intolerance

Endocardial cushion defect

Most common defect in Downs

Fixed and split S2; Systolic ejection murmur with diastolic rumble

At risk for early Eisenmengers —->> surgery before pulm HTN (6-12months old)

PDA

Continuous machine like murmur with bounding pulses and wide PP

Associated with Prem and Cong Rubella Syndrome

If not closed by wk 1 give Indomethacin/surgically close

Coarctation of aorta

May see asymmetry in arm BPs w bounding pulses

Preductal becomes apparent when PDA shuts

HOCM

Systolic ejection Murmur

Better with increased Preload (squat/handgrip)

Associated with Friedrich ataxia and pompes disease

Tx: Beta Blockers or CCBs (no diuretics or digoxin —>> no benefit!)

Ablation/Myotomy

Avoid sports/heavy exercise

Acute RF

Prolonged PR, elevated ESR, Vague chest pain, rash, arthralgias

Tx: Oral penicillin (erythromycin) for 10 days then prophylactically TIL 20

Complications: Mitral stenosis (then aortic/tricuspid involvement)

Respiratory Disease

Cystic fibrosis

Staph Aureus most common pneumonia pathogen in children

Absent Vas deferens (cf Kartageners which has lack of cilia)

Rectal prolapse d/t chronic diarrhoea

Pancreatogenic DM —> Pts typically lose alpha cells too —> insulin induced hypoglycaemia

Dx: sweat Cl Test

AR mutation on Chromo 7; CFTR protein

Tx: Thick resp secretions: DNAse (mucolytic); Albuterol/saline nebs

Enzyme replacement with meals + ADEK Supplement

Asthma

Sxs twice a wk and norm PFTs——>> Albuterol only

Sxs 4x a wk, night cough 2x a month and norm PFTs —->> Albuterol + inhaled CS

Sxs Daily, night cough 2x a wk and FEV1 60-80%—->> Add LABA (Salmeterol)

Sxs Daily, night cough 4x a wk and FEV1 <60% ——>> Add oral steroid!

Exacerbation —->> Inhaled Albuterol and PO/IV Steroids

Complications: Allergic Bronchopulmonary Aspergillus

Congenital tracheomalacia: Barking cough w/o retractions etc

Endocrine

Diabetes

T cell mediated destruction of Islet cells; Insulin AutoAb; glutamic acid decarboxylase AutoAb

DKA

High anion Gap —-> Monitor to see efficacy of Tx

Start Insulin Drip + IV Fluids -> Bridge with Glargine once tolerating PO

Dx Criteria for Diabetes:

Fasting Glucose >125 (twice)

2hr OGTT (75G) >200

Any Glucose >200 + Sx

Infectious disease: Rashs

Scarlett Fever (GAS): Sequelae

Fine, mac-pap desquamating rash that starts on chest

——->> spreads to neck, trunk and extremities; spares palms and soles

Strawberry red tongue

Tx: Penicillin to prevent RF (wont reduce chance of PSGN)

Rocky Mountain Spotted Fever

Fever, myalgias and abdo pain w/o LAD

Tx: Doxycycline!

Complications: Vasculitis and Gangrene

Impetigo: Bullous——>> Staph aureus —>> honey crusted plaque on face

Tx: Topical Muciprocin if localised

Scalded Skin Syndrome: Staph Aureus Exfoliative Toxin

Inflamed conjunctiva and multiple blisters -> Nikolskys +

Tx: IV Oxacillin/nafcillin

EBV

Fever, fatigue, generalised adenopathy, splenomegaly

If you give ampicillin/amoxicillin ——>> Mac- Pap rash

Dx: Blood smear shows lymphocytosis w atypical lymphocytes

Heterophile Ab (Monospot) Test

Tx: Rest and Sx

Precautions: Splenic Hemorrhage/rupture (most in wk 2)

—>> no contact sports until splenomegaly resolves

Acute Bronchitis (not Pneumonia!)

Cough productive of yellow-green sputum; coarse rhonchi + runny nose + low grade fever

No abnormal signs on lung exam ——> no CXR!

Tx supportive: Anti pyretic; tussives, histamines

Pneumonia

Specific to chlamydia Pneu: Staccato Cough + eosinophilia

Whooping Cough: Bordetella

Severe coughing spells with loud Inspiratory whoops and vomiting afterwards

—->> 2 wks prior had runny nose with dry cough

CBC shows lymphocytosis

Tx: Erythromycin for 14 days (also for family members and contacts at daycare)

UTI

Sx in neonates are vague: Fever, dehydration, fussy

—>> IF FEVER: Pyelonephritis (Cystitis has no fever!)

Anatomical RF: Vesicoureteral reflux —-> need Abs prophylaxis

Tx UTI: PO Trim-sulfa or Nitrofurantoin

Tx Pyelonephritis: 14 days IV Ceftriaxone or Amp+Gent

Tc-labelled DMSA Scan most sensitive and accurate study of scarring and renal size

—->> not first line though!

Bone and Joint Issues

Patellofemoral Syndrome

Also overuse: runners/cyclists common

Anterior knee pain; exacerbated by pressing patella

More common in F

Tx: Physio of quads

Juvenile Rheumatoid Arthritis

2 wk Hx of daily fevers and salmon coloured evanescenct rash on trunk, thighs and shoulders

Swollen knees

Good Px Factor: ANA+

Bad Px Factor: RF+; also polyarticular and older age at onset

Tx: NSAIDs > Methotrexate > steroids

SCD

Bilirubin gallstones

Resp distress and emergent tonsillectomy d/t Waldyer Ring (lymphoid tissue) hyperplasia

——-> common operation in SCD kids

Acute Chest Syndrome: Most common cause of death

Fever, cough, chest pain, chills and SOB

Tx: O2, Abs and exchange transfusion

Stroke: Tx with exchange transfusion not tPA!

Vaccination and prophylaxis:

23 Pneumococcal Vaccine and age 2 + H. Flu and N. Men

Penicillin prophylaxis from 2 months to 6yrs

Higher need for folate d/t increased Reticulocytes —->> increased risk of megaloblastic anaemia

Tx: Hydroxyurea; BMT curative but 10% mortality

—->>> can cause myelosuppression; hepatotoxic

Physiologic anaemia in first few months of life as fetal RBCs die off and lag in production

Transient Erythroblastopoenia:

3-6 months; d/t immunosuppression 2/2 to virus (not B19)

Folate Deficiency:

Glossitis and Failure to thrive

Goats milk based formula esp deficient

Blackfan Diamond anemia: Triphalangeal thumbs

Norm Plts and WBCs; Increased RBC ADA and low Reticulocytes -> pure red cell aplasia

Hypetelorism and microcephaly; Increased risk of malignancy

Tx: corticosteroids; transfusions and SCT

Fanconi Anaemia

Inherited DNA repair defect -> BM Failure -> Pancytopenia (Aplastic Anemia)

Cafe au Lait spots, microcephaly and ABSENT thumbs -> Polydactyly or flat thenar eminence

Dx: BM shows hypoplasia

Tx: Corticosteroids, androgens, BMT

Increased risk for cancer

Lead poisoning

Baby with hyperactivity, impaired growth, Abdo pain and constipation

Dx: venous blood sample —> check lead level

Tx: Succimer (if mild); EDTA + Dimercaprol if v bad (>45)

Wilson’s disease with fulminant liver failure:

Factor VII depleted first ——>> increased PT

Factor VIII and vwf made by endothelial cells so neither depleted

Henoch Schonlein Purpura

IgA and C3 deposited in skin

Follows URTI

Sx tx —>> can use steroids for GI/renal disease

Iron deficiency anemia

Healthy infants born with robust stores

—-> generally prevents anemia until 4-6 months regardless of diet

Maternal iron def; prematurity and early intro of cows milk (b4 12 months) ===> increase risk

Human breast milk contains only small amounts of vitamin D

Brain Tumours

New onset seizure, ataxia and headache which is worse in morn

Vomiting for a month

Most likely infratentorial

Most Common: Pilocytic Astrocytoma of Cerebellum (low grade)

New onset seizures may be presenting sign

Tx: Resect —->> 90% survive

Second most common: Medulloblastoma

—->> worse px; Vermis —->> obstructs 4th ventricle —> hydrocephalus

Medulloblastoma

Most common malignant paediatric brain tumour

Posterior fossa tumour: Originates in cerebellum —-> Cerebellar dysfunction

Often compresses 4th ventricle —> hydrocephalus

Truncal/wide based gait ataxia (vermis); dysmetria, intention tremor (Cerebellar hemispheres)

Elevated ICP —> HA, vomiting, papilledema, aducens N palsy

—> CN VI has long intracranial course so v vulnerable to compression/stretching at skull base

Can mestatasize via CSF —-> spinal cord

Meningioma

Benign, extraaxial tumour

Seizure and focal defects based on tumour location —> visual field defects if optic pathway involved

V rare in children

Craniopharyngioma

Suprasellar; Benign; Derived from Rathke pouch

Optic chiasm compression —> Bitemporal hemianopsia; HA

Pituitary stalk compression —-> endocrinopathies

—> Growth failure in kids d/t low TSH/GH

Pubertal delay/ sexual dysfunction in adults (low LH and FSH)

DI (low ADH)

Calcifications/cystic mass in sella turnica on MRI/CT

Tx: Resection +/- radiation

Wilms Tumour

HTN child with abdo mass +/- pain; hematuria : child seems well

Best test: Abdo CT —->> do Chest CT to check lung involvement (common site of metastasis)

Tx: Surgery, chemo, radiation

Neuroblastoma

Neural crest origin -> Small round blue cells on histology

Precursors to adrenal medulla and Sympathetic chain ganglion (Can cause Horners Syndrome)

Harlequin Sign: Absent facial flushing on one side

Median age <2

Abdo mass

Periorbital Ecchymoses (Orbital metastases): Racoon eyes

Spinal Cord Compression d/t epidural invasion (dumbbell tumour)

Child with jerking (dancing) movements of eyes and legs, bluish skin nodules and tender abdo mass

Elevated catecholamine metabolites: vanillylmandellic and homovanillic acid)

N-myc amplifications

ALL

Cells are CALLA and TdT+

Best test: BM Biopsy —>> >30% lymphoblastic

Tx: Chemo + intrathecal methotrexate to prevent recurrence in CSF/CNS even if no sx

Hodgkin Lymphoma

Teenager with enlarged, painless, rubbery nodes

Drenching fevers and 10% weight loss

Owl eyes: Reed-Sternberg cells: CD15/30 +

Best test: Excisional biopsy —>> must stage to determine tx: Staging CT/Laporoscopy

Tx: Chemo + Radiation —-> 90% cure if Stage I/II

Non Hodgkin Lymphoma

Child with non productive cough and large ant mediastinal on CXR

Best test: Biopsy of mass; BM biopsy for staging

Tx: Surgical excision if abdo tumour

Can use anti CD20 if B cell tumour; radiation for some

Language Disorder

Persistent difficulties in comprehension (receptive) and/or production (expression) of spoken and written language

May involves rules (grammar, syntax) and/or functional use of language

Glycogen Storage diseases

Von Gierkes -> Hepatic G6P

Hypoglycaemia -> seizure; hepatomegaly; lactic acidosis; high TGs; high uric acid

Poor growth w doll like facies

Pompe

Infantile: Cardiomegaly; hypotonia; resp distress, hepatomegaly

Juvenile/adult: Myopathy, delayed motor development and weakness; resp issues

McArdle

Skeletal muscle issue

No elevation of blood lactate during forearm test; increased CK

Myoglobinuriua; myalgias; cramp; fatigue

Second wind phenomenon

Lysosomal Storage disieses

Gaucher Disease

Glucocerebrosidase deficiency—>> glucocerebroside accumulates in macrophages (foamy lipid laden)

Severe hepatosplenomegaly (splenomegaly more prominent)

Anemia, thrombocytopenia (BM infiltration);

Bony pain (‘growing pains’)

Failure to thrive; delayed puberty; Chronic fatigue

Management: Enzyme replacement

Metachromic Leukodystophy -> Demyelination of CNS and PNS

Ataxia and dementia

Symmetric bilateral periventricular hyperintensities

Niemann Pick: NOT NORM LIVER: hepatosplenomegaly

Sphingomyelinase def (Types A and B)

Arreflexia; Foamy histiocytosis

Tay Sachs

Totally norm liver-> gangliosidosis -> CNS degeneration; blindness

Beta hexosaminidase A Def

Hyperreflexia

Tx: Supportive

Both have: hypotonia, loss of motor milestones, Cherry red macula and feeding difficulties

Krabbe’s

Galactocerebrosidase Def

Hyperreflexia; optic atrophy; globoid cells (PAS +); developmental delay; hypotonia

Hurler

Lysosomal hydrolyse def

Gargoyle; retardation

Coarse facial feature, inguinal/umbilical hernias, corneal clouding and hepatosplenomegaly

Hunter

Aggressive and milder cf hurler; no corneal clouding

Fabry (XR)

Angiokeratomas; periph neuropathy; anhidrosis; CVD; renal disease

I cell disease

Skeletal abnormalities; Coarse facies

No tx

Kawasaki Disease (mucocutaneous LN Syndrome)

Predilection for coronary arteries: coronary artery aneurysms and MI

Triggered by infectious process leading to inflamm response in genetically susceptible

Abrupt onset fever (>39) for min 5 consecutive days

Rash in diaper area (desquamation) that spreads diffusely (erythematous maculopapular)

Cracked, red lips and strawberry tongue

Swelling of hands and feet, skin will subsequently peel

Bilateral non exudative conjunctival injection with perilimbal sparing

Anterior, unilateral, cervical LAD ( at least 1 LN >1.5cm diameter)

Dx: Fever for 5 consecutive days with 4/5 principle features:

Incomplete Kawasaki Disease -> Less than 4/5 met only 2/3

Conjunctivitis

Rash

Ant cervical LAD

Strawberry tongue

Hand/feet erythema/oedema

AND BURN: FEVER

Best first test: 2D Echo and EKG —>> Repeat Echo after 2-3 wks of tx

Complication: Coronary artery aneurysm or MI -> Follow up ECHO

Tx: High dose IVIG (also reduces risk of coronary artery aneurysms)

Live virus vaccines (MMR, varicella) must be deferred for >11 months after tx with IVIG

High dose aspirin until afebrile then low dose for min 6 wks

Anticoagulant (warfarin) d/t thrombocytosis

Henoch-Schonlein Purpura Tetrad: Palpable purpura, arthralgias, abdo pain and renal disease

Most common vasculitis of children -> Small vessel vasculitis

IgA deposition in skin, glomeruli and GI bvs

Rash in pressure dependent areas

Joint pain in larger joints of lower limbs, also migratory and oligoarticular

Abdo pain is diffuse and colicky

Vasculitis —>> vessel rupture —-> submucosal edema —->>> lead point for interssusception

Often triggered by infection: viral URI or GAS -> More common in winter

Joint swelling w/o effusion -> Range of motion and walking impeded by pain

Microscopic hematuria: HTN and elevated Cr less common in kids (adults with HSP)

—> kids norm make full recovery

Norm platelet levels, norm coag studies

Positive guaiac test (GI deposition)

Dx: Clinical but biopsy shows IgA deposits in vessel wall/mesangium

Tx: supportive: fluids and acetaminophen

NSAIDs with caution for joint pain but avoid if renal or GI disease

Systemic glucocorticoids if pain severe; ACEI/steroids if proteinuria

Takayasu Arteritis: Primarily involves AORTA

Constitutional sx

Arterio-occlusive: claudication, ulcers etc esp in arms

Arthralgias, myalgias

BP Discrepancies; pulse deficits; arterial bruits

Elevated ESR and CRP

Chest X-RAY: Aortic dilation, widened mediastinum

CT/MRI: Wall thickening, narrowing of vessel lumen

Tx: Systemic glucocorticoids

Leukocytoclastic vasculitis

Cutaneous small vessel vasculitis

Triggered by antibiotics

Painful, raised, non blanching petechiae or Palpable purpura

Thromboangiitis Obliterans (Buerger Disease)

Age <45; smoking hx

Distal limb ishaemia, gangrene, ulceration d/t nonatherosclerotuc occlusion,

Inflammatory thrombosis and fibrosis

Segmented occlusion of small and medium sized vessels

Periph pulses may be diminished but pts frequently have norm ankle-brachial index

Dx of exclusion

Tx: Smoking cessation (nicotine replacement can even worsen progression)

Trisomy 21: Down Syndrome

First Trimester Screen: Accurate (wks 11-14): serum + US

Beta hCG, PAPPA-A and nuchal translucency (US)

Beta hCG increased in chromosomal abnormalities (not PATAU) and PAPP-A is decreased

Second Trimester Screen: Less accurate (wks 16-18):

Quad test: AFP, uE3 (unconj), hCG, DIA (dimeric Inhibin A)

Low AFP and E3; high hCG and Inhibin

Non invasive prenatal test/screen: Cell free DNA test Wk 10

Tests free floating fetal cell DNA in maternal serum

Increased PPV

Positive results followed by: CVS: Wks 10-14. Most accurate

Sample of placenta to identify karyotype (usually same as fetus)

Amniocentesis: Wk 15 onwards

Evaluates fetal DNA for karyotype

Facial features:

Upslanting Palpebral fissures

Brushfield spots: small, white/grey/brown spots typically arranged in a ring around iris periphery Epicanthal fold: FOLD on inner eyelid

Protruding/furrowed tongue

Excessive skin at back of neck

Transverse palmar creases

Sandal gap: wide space between toes 1+2

DDx: Other chromosomal abnorm and Zellwegers syndrome

Polycythemia (Hct >65%) in 50% in newborn period; Hypotonia

Congenital hypothyroidism

ADHD and autism

Recurrent OM———> Increases hearing loss issues (conductive)

Atlanta-axial instability: baby positioning implicated, no contact sports/gymnastics etc later in life

Obstructive sleep apnea; Obesity and short stature

Infection and autoimmune diseases esp juvenile idiopathic arthritis

Alzheimer’s like dementia around 60 years (APP on chromosome 21)

Decreased fertility d/t primary gonadal deficiency: M tend to be infertile but F can become pregnant

Trisomy 18: Edwards Syndrome

Fetal US: Choroid plexus cysts (norm in isolation but with other anomalies suggestive) 2 vessel umbilical cord

Clenched hands with overlapping 2nd and 5th digits (with hypoplastic nails) —-> not seen in ## PATAU!

Prominent occiput

Heart defects; Meckels

Trisomy 13: Patau Syndrome: Cleft Palate

Fetal US:

Cerebral malformations eg holoprosencephaly (failure of forebrain to divide)

Significant eye abnormalities: Microphthalmia, Cyclopia, colobomata (eye parts missing)

Postaxial Polydactyly (extra digits after the pinky)

Cutis aplasia (focal absence of scalp skin)

GU abnorm: hypospadias, cryptorchidism, hypoplastic labia minora, bicornuate uterus

Common to both 18 and 13 trisomies:

Microcephaly, micrognathia, abnorm low set ears, rocker bottom feet and SGA

Cong cardiac anomalies; GI and Renal abnormalities;

Resp anomalies: Upper airway obstruction, aspiration, central apnea -> cause of death

Feeding problems; Seizures; Severe intellectual delay

Otitis Externa

Thick exudates coming from ear and tender posterior auricular nodes

Pseudomonas most common bug

Tx: Topical Ciprofloxacin

Complications:

Malignant External Otitis ——>> invade temporal bone —->> facial paralysis, vertigo, brain abscess

Need CT and IV Abs; may need surgery

Acute OM Bulging tympanic membrane (INFLAMMED!) with middle ear inflammation

Post viral URI d/t secretions/inflamm blocking Eustacian tube (connects middle ear to back of nose)

Kids have poor middle ear fluid flow (eustacian tube more horizontal) and increased number of URIs

H influenza (50%): norm milder plus bilateral, often occurs with conjunctivitis:

otitis-conjunctivitis syndrome

S pneumo: more severe and higher risk of complications such as mastoiditis

Risk Factors: Bottle feeding is a known risk factor: Breastfeeding is protective!

Second hand smoke: increased colonisation of nasopharynx

Daycare; Craniofacial abnormalities; Unvaccinated status esp S pneumo

Tympanic membrane: Should look pearly gray/translucent

NB erythema can appear if child simply crying (not enough to dx OM)

Reduced TM mobility (poorly mobile TM generally has fluid behind it)

Dx: Limited mobility/retraction (most sensitive) on insufflation (blowing) or air fluid level

Other causes of ear pain in kids: can be complications of AOM

Tx: Acetaminophen or NSAIDs for fever/pain control

Observation for 2 days

High dose Amoxicillin/Macrolide

High dose penetrates middle ear and helps overcome some S pneumo penicillin resistance (PBP)

Co-amoxiclav if resistant AOM, recurrent AOM (<30dys between episodes), otitis-conj syn,

recent use of amoxicillin or hx of amoxicillin resistance

Recurrent AOM: 3 EPISODES IN 6 MONTHS OR 4 EPISODES IN 12 MONTHS

Indication for tympanostomy tubes (pressure equalising tubes)

Allow for admin of topical therapy -> Reduces need for systemic antibiotics

Complications:

Otitis media with effusion: OME: poor TM mobility -> Fluid in middle ear w/o signs of acute inflamm

Gray/pink TM with colourless/amber serous fluid behind it

Resolves on its own

Hearing Loss (conductive)

Cholesteatoma (abnorm proliferation of squamous epi) if recurrent AOM

Spontaneous TM rupture d/t pus under pressure -> Pain improves with rupture

Copious ottorhea, may be foul smelling

MASTOIDITIS: Most serious complication

Inflamed mastoid (otalgia); fever; protruding ear (auricle) outward and upward

MCC is Strep pneu

Extension of infection from middle ear to mastoid air cells

High fevers and toxic appearing: IV abs vancomycin or linezolid

Consider pseudomonas coverage if recurrent AOM/ recent abs use

Dx: CT/MRI scan: opacification of air cells —> imaging not needed for dx

Tx: surgical drainage/culture (S pneumo and MRSA high potential for resistance)

Complications:

Extracranial extension (subperiosteal abscess; facial N Palsy; hearing loss; labyrinthitis)

Intracranial extension (brain abscess; meningitis)

Facial nerve palsy

Compression of CN7 as it travels through narrow canal in middle ear by infection and/or inflamm

Cannot close eye fully

Labyrinthitis: Tinnitus, hearing loss, vertigo, nystagmus

Extension of infection

Chronic suppurations otitis media (>6wks)

Perforated TM with chronic purulent drainage

D/t prolonged/untreated AOM often secondary to MRSA

Less developed countries, immunodeficiencies, anatomical abnormalities

Cholesteatoma

Abnormal growth of squamous cells in middle ear seen as creamy/pearly white mass behind intact TM

Pathogenesis:

Development of visible retraction pockets (invaginations) of tympanic membrane d/t chronic infection

====> resultant pouch traps debris and epithelium —> can fill w granulation tissue

—>> chronic ottorhea if infected or conductive hearing loss if growth expands to ossicles

Surgery: erosive lesion can cause hearing loss, CN palsies, meningitis, brain abscesses (2’ry infections)

Eustacian Tube Dysfunction

Tubes norm open and close to:

Equalise middle ear pressure; Drain middle ear; Prevent reflux of nasopharyngeal secretions

Pathophysiology: Inflammation —->>>> tube obstruction

Ear fullness/discomfort; Tinnitus; Conductive hearing loss

Intermittent Popping sensation esp during changes in P (yawning, swallowing)

Retracted TM d/t negative P within middle ear

Management: Tx underlying cause eg acute bacterial rhinosinusitis

Complications: Hearing loss; TM Rupture and cholesteatoma