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CASE 1 SHORT STATURE

Case: 6 yo female, born at 2.5 kg 37 weeks, only child, evaluated for short stature, physically small within normal proportions no abnormalities, BP nml

Definition of short stature: height below the 5th percentile for age and gender (>2 SD below the mean)

Growth velocity:At birth: 50 cm1 year: +25 cm1-2 year: +12 cm2-3 year: +10 cm3-4 year+ 7 cm4-5 year: + 6 cm5-Puberty: 5 cm/yearPuberty: 10-12 cm/year (in girls during Tanner II-III, boys Tanner IV)

Genetic PotentialGirls: (father height + mother height 13cm)/2Boys: (father height + mother height + 13cm)/2

3 things to ask to see:Bone age (3 yo)Growth chart (nml until 2 years ago, plateau)Parents height (nml)

D/Dx of Short Stature*Constitutional growth delay (resume rate at 2-3, delayed puberty and bone age)*Familial (Genetic) Short StatureNutritional deficiency (IBD, Celiac, HIV, other malnutrition diseases)Growth Hormone DeficiencyHypoglycemia and micropenis growth velocityDownward crossing of growth curve at 2-3 yo muscle mass, fat massPubertal delayDx: low IGF-1, IGF-2 and IGFBP-3, absent or low GHBP

Chronic Illness (chronic UTI)Endocrine (hypothyroidism, hypopituitarism, Cushings)Chromosomal (Turners, Downs, Silver Russell, Prader Willi)Medications (steroidsCartilage problemsPsychosocial DwarfismIUGR (gets better in 2 years)SGA (birth weight 60 in sweat (40-60 is suspicious)Genetic testingNasal potential differenceFat or protein absorption test (fecal elastase to look for pancreatic insufficiency)

Inheritance Pattern of CFAutosomal recessive defect in CFTR protein (inhibits chloride secretion and enhances sodium reabsorption)Chromosome 7Large number of mutations in the same location (M/C in PheF508)

Presenting Symptoms of CFNeonatal:Meconium ileusProlonged jaundiceChildhoodRespiratory SxsFTTHypoalbuminemiaDehydration/hypochloremic alkalosisNasal polyps (recurrent sinusitis)Pancreatitis

Treatment of CFNutrition (high caloric diet)HittingAbx for pseudo inhalations of tobramycin, systemic quinolones (ciprofloxacin)Pulmozyme (DNAse), Hypotonic salineLiver disease urodeoxycholic acidGenetic therapy

CASE 3 CONVULSIONS

5 yo female, Hx of convulsions, presently headache and fever and convulsions

Initial ManagementABCs and vitals

She is sleepy but arousableRR 20O2 sat 95%HR 180BP 100/60Temp 39.4Physical exam: normal Not vaccinatedNeonatal SeizureM/C neurologic manifestation of impaired brain fxn risk: metabolic, hypoxic, ischemic, infectionGTC uncommon (incomplete myelination)Tx with phenobarbital

Vaccine Schedule0, 1 mo, 6 mo: Hepatitis B2, 4, 6, 12: DTaP, Polio, Hemophilus Influenza B, Rotavirus and Pneumococcus 1 yr and 6-7 yr: MMRV 18 mo and 24 mo: Hepatitis A

D/Dx for ConvulsionsFebrile Seizures (6 mo 5 yo)Metabolic (hypoglycemia, hyponatremia, hypocalcemia, inborn errors of metabolism)Infections - Meningitis/Encephalitis/Abscess, systemic sepsisVascular events (stroke, hypoxemic ischemic encephalopathy)Infantile SpasmsOnset at 4-8 moBrief symmetric flexor/extensor contractions up to 100x/dEEG pattern: hypsarrhthmia (large amplitude chaotic multifocal spikes and slowing)1: West Syndrome Tx: ACTH2: Phakomatosis (TS M/C), Metabolic, CNS malformation, brain injury Tx: Vigabitran (can cause loss of peripheral vision)

Trauma (IC hemorrhage)Toxins/DrugsNeonatal SeizureInfantile SpasmsEpilepsy (rqrs 2+ unprovoked seizures)

Febrile SeizuresSimple:Generalized seizure30 min in 24 hr

Complications of Febrile Seizures30% >12 mo have recurrent seizures50% 38 for 3 weeks w/o apparent cause after a careful hx, PE and W/U has been completed (1 week inpatient investigations or 3 weeks outpatient investigations

CausesInfectious (RTI, UTI, CNS, endocarditis, osteomyelitis, abscess)Infectious causes of FUOActinomycesCat ScratchBrucellaCampylobacterTuleremiaListeriaMycoplasmaSalmonellaTBYersiniaChlamydiaRicketsiaCMVEBVHepatitisHIV

ViralBacterialParasiteRheumatologic JRA, SLE, RF, vasculitis, Behcet, KawasakiAutoimmune IBDMalignancy lymphoma, leukemiaPeriodic disorders FMF, PFAPADrug feverMunchausen by proxy

LabsCBC (infection, leukemia)

WBCs 7,500 50% neutrophils, 45% lymphocytesPlatelets 200,000Hb 13.2

CASE 11 SICKLE CELL

9 yo m with 2 d high fever, abd pain and recurrent vomiting. Suffers from congenital hemolytic anemia.

DDx of Acute Abdominal PainInfection/Inflam. acute gastroenteritis, mesenteric adenitis, PUD/gastritis, peritonitis, pancreatitis, hepatitisTraumaObstruction intussusception, incarcerated hernia, appendicitis, SBOGynecologic torsion, PIDExtraintestinal pneumonia, diskitis, pharyngitis, UTISystemic DKA, sickle cell, HSP, FMF, malignancy, splenic sequestration (hemolysis)A/I IBD IBSPsychogenic

LabsCBC, amylase, LFTsUrinalysisCXR, AXRHereditary SpherocytosisAD d/t spectrin abnormalityJaundice, gallstones retics, indirect bili LDH, haptoglobinCoombs -Dx: osmotic fragility testTx: splenectomy >5 yo

CT/US of abdomen

D/Dx of Hemolytic AnemiaMembrane defect: Hereditary spherocytosis Elliptocytosis PyropoikilocytosisEnzymatic Defect: G6PD Pyruvate kinase deficiencyG6PDX-linkedNo regeneration of glutathione (protects against oxidative stress)Can be triggered by infection, fava beans, drugsAbd pain, vomiting/diarrhea, fever, hemoglobinuriaretic, bite cells, Heinz bodies

Hexokinase deficiencyHemoglobin defects Sickle cell ThalassemiaImmune hemolytic anemia Transfusion reaction Rh incompatability Autoimmune Lymphoprolyferative CT diseases Drugs IdiopathicExtrinsic Microangiopathic hemolytic anemia Heart valve TTP/HUS DIC Infections Babesiosis, Malaria Chemicals Venoms Thermal injury HypophosphatemiaDefect in Sickle CellValine switched for glutamic acid on 6th position of chainO2 rigid crystal formation RBC sickling

Features of Sickle CellAppears after 6 mo (d/t HbF)Jaundice and gallstonesVaso-occlusive pain crises Leg ulcers Stroke Swollen hands/feet (dactylitis) Can mimic surgical abdomen Acute abdominal crises sickling in mesenteric artery Acute chest syndromeSplenomegaly splenic infarctInfection S. Pneumonia (SEPSIS) H. Influenza Salmonella osteomyelitis Parvovirus (aplastic crisis)

Diagnosis of Sickle Cell*Hgb Electrophoresis* HbS (90%) HgF (2-10%) no HgAHg ranges from 5-9 g/dLSmear: sickle cells

Treatment of Sickle CellPneumococcal Vaccine 2 yo and 5 yoProphylactic penicillin by 4 moHydration and analgesics for painful crisesExchange transfusion for priapism

If the patients initial complaint was anemia, what labs can you check to discern the cause?ReticulocytesMCV (average sidze of RBC)MCH (Hb/RBC)RDW (RBC size)FerritinTransferrinTIBCBlood smearElectrophoresis

Causes of low MCVIron deficiency anemia (RDW, ferritin, TIBC)Thalassemia (nml RDW, HbA2)Lead (basophilic stippling on smear, lead level, free erythrocyte protoporphyrin)

What can help you diagnose thalassemia w/o labs?Family hx (thalassemia B-Mediterranean)SplenomegalyPale green-brown complexionFacial deformities (marrow expansion)Does not respond to iron supplementation

How do you make the diagnosis of thalassemia minor?Hb Electrophoresis: HbA2 >3.4%

Thalassemia Blood Smear

CASE 12 PYELONEPHRITIS

Recommendations upon discharge homeOne week after abx tx, culture to ensure sterile urine and follow up with cultures for 1-2 yrsRenal US to r/o hydronephrosis or renal/perirenal abscessVCUG after inflammation resolves in ~1-2 moIf diagnosis of acute pyelonephritis was uncertain, renal scan with technetium-labeled DMSA to look for photopenia/scaring; if scarring is present, measure serum creatinine

Purpose of VCUGInvestigates the presence of valves, reflux and diverticulum

What can cause recurrent UTIsVesicoureteral reflux (occurs in 30-50% of kids with UTIs)

What is refluxAbnormal backflow of urine from bladder to kidneyd/t junction incompetence of the vesicoureteral junction (shortened submucosal tunnel in which the ureter inserts through the bladder wall)

Causes of RefluxAnatomic deformity of the ureterovesical junctionDuplication of the ureters/ectopic ureter/ureteroceleNeuropathic bladder (myelomeningocele, sacral agenesis)Ureteropelvic junction obstructionInherittedBladder outlet obstruction/foreign body

Grades of VUR and treatment of each1. Distal ureter only (abx prophylaxis)2. Pelvis and calyces (abx prophylaxis)3. Calyces with dilation (abx prophylaxis, if age 6-10 and bilateral surgery)4. Pelvis and calices with dilation of ureter (abx prophylaxis, if age 6-10 and bilateral surgery)5. Dilation of entire collecting system - pelvis, calyces and ureter torturosity risk if you had varicella 10 d) Cough 2 to post-nasal dripTx: amoxicillin for 14-21 d

50. ECTOPIC THYROID M/C locationsLingualSublingualSubhyoid

51. ERYTHEMA NODOSUM Tender red nodules under the skin (age like a bruise)Immunologic responseAss. with: Infections (HCV, TB, mycoplasma, strep, yersinia, EBV) AI diseases (IBD, Behcets) Sarcoidosis Medications Malignancy Vaccinations

52. LID LAG (VON GREFE) Ocular signs of hyperthyroidism: eyelid retraction ("stare"), extra-ocular muscle weakness, and lid-lagLid lag: patient tracks an object downward, the eyelid fails to follow the downward moving iris, and the same type of upper globe exposure which is seen with lid retraction occurs temporarily

53. ANAL FISSURE

54. ANGIOEDEMA OR NEPHROTIC SYNDROME Acquired angioedema-Usually caused by allergy -Occurs together with other allergic symptoms and urticaria-Side-effect to certain medications (ACE inhibitors)Hereditary angioedema -AD genetic mutation -Defiency in C1-esterase-inhibitor protein -Leads to abnormal activation of the complement system-Can cause swelling elsewhere in the body (GI tract) *If rapidly progressing in acquired or HAE involving the larynx it can cause life-threatening asphyxiation*

Nephrotic Syndrome-Proteinuria, hypoalbuminemia, edema, hyperlipidemia-Nephrotic range proteinuria: >40mg/m2/hr or random protein/creatinine ratio >3- M/C Minimal Change-Other causes: FSGS, mesangial proliferation-Most respond to steroids, if relapse, try cyclophosphamide or cyclosporine-ComplicationsSBP (S. Pneumonia, E. Coli)Thromboembolism (loss of antithrombin III)

55. IMPETIGO (SEE ABOVE)

56. RHEUMATOID NODULES Rheumatoid ArthritisFarber Disease: deficiency of the lysosomal enzyme ceramidase and the accumulation of ceramide in various tissues, especially the joints

57. RETROPHARYNGEAL ABSCESS Potential space between the post. pharyngeal wall and the prevertebral fascia (nml should be