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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 cm
1 year: +25 cm
1-2 year: +12 cm
2-3 year: +10 cm
3-4 year+ 7 cm
4-5 year: + 6 cm
5-Puberty: 5 cm/year
Puberty: 10-12 cm/year (in girls during Tanner II-III, boys Tanner IV)
Genetic Potential
Girls: (father height + mother height 13cm)/2
Boys: (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 Stature
Nutritional deficiency (IBD, Celiac, HIV, other malnutrition diseases)
Growth Hormone Deficiency
Chronic Illness (chronic UTI)
Hypoglycemia and micropenis
Endocrine (hypothyroidism, hypopituitarism, Cushings)
growth velocity
Chromosomal (Turners, Downs, Silver Russell, Prader Willi)
Downward crossing of growth curve
Medications (steroids
at 2-3 yo
Cartilage problems
muscle mass, fat mass
Psychosocial Dwarfism
Pubertal delay
IUGR (gets better in 2 years)
Dx: low IGF-1, IGF-2 and IGFBP-3,
SGA (birth weight <10th percentile for gestational age)
absent or low GHBP
Lab Values:
Immediately: TSH/T4, Celiac (High TSH, low T4)
CBC, electrolytes, GH, urinalysis
Next Step
Test for Hashimotos disease
PE: look for growth arrest and goiter
Antithyroid antibodies
Treatment
Thyroxine
Levels of T4, TSH and growth rate and size of goiter should be followed
Associated A/I disorders:
Celiac
Diabetes

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Check the family
Syndrome with Incidence of Hashimotos
Trisomy 21
Can Turners have the only manifestation be short stature?
Yes
How?
Mosaicism
Treatment of Turners
GH
Estrogen (increases bone density)
Indications for GH
Idiopathic short stature (2.5 SD below normal height + projected height <1.5m)
Turners/Noonan
Prader Willi (makes them thinner)
Chronic renal failure
Premature babies who do not catch up (SGA >4 years w/ no catch up)
TURNERS

NOONAN
Noonan Syndrome
AD d/t defect in RAS/mitogen activated protein kinase
Short stature
Pectus excavatum
Webbed neck, flat nasal bridge
Congenital heart defect
Blood clotting disorder
Learning defect

CONGENITAL HYPOTHYROIDISM

CASE 2 RECURRENT PNEUMONIA

15 mo old m, Hx of repeated cough and wheezing, bronchodilators dont really help, born
nml weight, Jaundice for 3 weeks, 4 mo had bronchiolitis
Bronchiolitis
Viral infection of medium/small airways
Occurs in children <2 yo
Mild resp illness proceeds to resp distress with
paroxysmal wheezing and apneic spells
M/C complication: hypoxia
Dx: Nasopharyngeal secretions (culture, PCR or
antigen detection)
Tx: Humidified O2, nebulized albuterol, hypertonic
saline
If high risk, ribavirin
Repeated episodes of coughing and wheezing since bronchiolitis
High
risk prevention: RSV-IVIG or palivizumab
40% of pts w/ bronchiolitis have persistent wheezing in the
future

Bronchiolitis Etiology
*RSV *
human metapneumatic virus
Adenovirus
Parainfluenza 3
Influenza
Mycoplasma (rare)

Hisotry of 3 cases of pneumonia dx clinically

Jaundice - 7 d. blood tests showed Hb 10.4 retic 4%, coombs + weak
Most likely diagnosis?
ABO mismatch
Recurrent pneumonia
* Asthma*
Familial Dysautonomia (Riley Day)
Aspiration: reflux, neurological disease (CP, familial dysautonomia)
Defect in sensory, symp and some
CF
parasymp neurons in the ANS
Inability to produce tears
Immunodeficiency (esp. agammaglobulinemia)
Poor growth
Left to right shunt (pulm congestion) - VSD
Lung abnormality sequestration, bronchiectasis, foreign body Labile blood pressure
Frequent vomiting crises
Primary Ciliary Dyskinesia
Questions to ask in recurrent pneumonia:
Frequency of episodes
Status of child between the episodes
Asthma
Documentation x-rays? same lobe? x-ray nml b/w episodes?
Family hx (esp. asthma)
Foreign bodies

Pneumonia
Problems with speech, movement
Difficulty swallowing
Inappropriate perception of heat, pain,
and taste
Unstable GI motility

Narrow down diagnosis

Physical exam exclude chronic diseases
X-ray chronic changes, heart size
Concentration of immunoglobulins
Sweat test
CXR shows hyperinflation and infiltrate in RML
Asthma (RML syndrome)
Approach to Asthma Treatment
Mild intermittent: albuterol as needed
Mild persistent: albuterol + daily inhaled
Moderate: albuterol + daily inhaled steroids
Severe: agonists, inhaled high dose steroids +/- leukotriene inhibitors
Acute treatment:
Oxygen

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Inhaled agonist (albuterol)
+/- ipratroprium
IV line
Dose of steroids
2nd inhalation
If unsuccessful examine for pneumothorax/atelectasis
3rd inhalation
If unsuccessful, admit to ICU
Continuous agonist, epinephrine, magnesium and helium
Send home if constant improvement for 4 hrs + 02 sat >92% for 4 hrs
Work up for CF
Sweat test - chloride > 60 in sweat (40-60 is suspicious)
Genetic testing
Nasal potential difference
Fat or protein absorption test (fecal elastase to look for pancreatic insufficiency)
Inheritance Pattern of CF
Autosomal recessive defect in CFTR protein (inhibits chloride secretion and enhances
sodium reabsorption)
Chromosome 7
Large number of mutations in the same location (M/C in PheF508)
Presenting Symptoms of CF
Neonatal:
Meconium ileus
Prolonged jaundice
Childhood
Respiratory Sxs
FTT
Hypoalbuminemia
Dehydration/hypochloremic alkalosis
Nasal polyps (recurrent sinusitis)
Pancreatitis
Treatment of CF
Nutrition (high caloric diet)
Hitting
Abx for pseudo inhalations of tobramycin, systemic quinolones (ciprofloxacin)
Pulmozyme (DNAse), Hypotonic saline
Liver disease urodeoxycholic acid
Genetic therapy

CASE 3 CONVULSIONS
5 yo female, Hx of convulsions, presently headache and fever and convulsions
Initial Management
ABCs and vitals
She is sleepy but arousable
RR 20
O2 sat 95%
HR 180
BP 100/60
Temp 39.4
Physical exam: normal
Not vaccinated
Vaccine Schedule
0, 1 mo, 6 mo: Hepatitis B
2, 4, 6, 12: DTaP, Polio, Hemophilus Influenza B, Rotavirus and
1 yr and 6-7 yr: MMRV
18 mo and 24 mo: Hepatitis A

Neonatal Seizure
M/C neurologic manifestation of
impaired brain fxn
risk: metabolic, hypoxic,
Pneumococcus
ischemic, infection
GTC uncommon (incomplete
myelination)
Tx with phenobarbital

D/Dx for Convulsions

Febrile Seizures (6 mo 5 yo)
Metabolic (hypoglycemia, hyponatremia, hypocalcemia, inborn errors of metabolism)
Infections - Meningitis/Encephalitis/Abscess, systemic sepsis
Vascular events (stroke, hypoxemic ischemic encephalopathy)
Trauma (IC hemorrhage)
Infantile Spasms
Onset at 4-8 mo
Toxins/Drugs
Brief symmetric flexor/extensor
Neonatal Seizure
contractions up to 100x/d
Infantile Spasms
EEG pattern: hypsarrhthmia (large
Epilepsy (rqrs 2+ unprovoked seizures)
amplitude chaotic multifocal spikes and
slowing)

1: West Syndrome
Febrile Seizures
Tx: ACTH
Simple:
2:
Phakomatosis
(TS M/C), Metabolic, CNS
Generalized seizure
malformation, brain injury
<15 minutes, only once in 24 hr
- Tx: Vigabitran (can cause loss of
Nml neurological exam
peripheral vision)
No hx of prior neuro insult or CNS abnormality
Complex:
Focal
Last longer than 15 min or total seizure activity >30 min in 24 hr

Complications of Febrile Seizures

30% >12 mo have recurrent seizures
50% <12 mo have recurrent seizures
risk of epilepsy 2x that of the general population
Management of Febrile Seizure
ID source of fever and treat infection
Antipyretics
No labs/head films/CT/MRI
Indications for LP
Physical exam signs suggesting meningitis
<1 yo strongly consider esp if 6-12 mo w/o immunizations for S. Pneumonia or H. Influenza

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On abx that could mask meningeal signs
Pt reported twitching of right eye and right side of mouth
Sleepy and weakness of right leg and hand
Stroke like symptoms
Focal Seizure
Herpes Encephalitis
EEG shows diffuse slowing and periodic lateralizing epileptiform discharges (PLEDs)
HYPSARRHYTHMIA

PLEDS

CASE 4 TONSILOPHARYNGITIS
7 yo f, fever 39.5 6 hrs and abdominal pain 6 hrs, vomited after eating once, recurrent
stridor since age 1.5
Vague general pain over abdomen 5-6
PE: soft abdomen, lungs normal, large red tonsils with exudate, cervical lymph nodes
palpable
Diagnosis
Tonsilopharyngitis (can present w/ abdominal pain)
Etiology of Tonsilitis
Bacteria:
GAS, GGS, GCS
Diphtheria (unvaccinated)
Gonococcus
Mycoplasma
Virus:
EBV
CMV
Adenovirus
HIV
Age Range for Pharyngitis
3-15 y.o.
Management
Throat culture from the deep pharynx
Plate on
Blood agar you will see hemolytic colonies if GAS
Also, rapid antigen test, if +, it is strep
Treatment of Strep Pharyngitis
Penicillin g 10 d
Macrolide if allergic
Reason for Abx Tx in Strep Pharyngitis
Prevent rheumatic fever,
infectivity and shortens duration of disease
Prevents future sxs like arthritis and otitis
D/Dx of Stridor
Laryngomalacia/Tracheomalacia
Epiglottitis H. Influenza
Bacterial Laryngotracheitis
Acute Viral Laryngitis Parainfluenza, Diptheria
Foreign Object
Tumor
Vascular Ring
Hypocalcemia
JIA d/t cricoarytenoid arthritis
Viral Laryngitis Tx
Adrenaline inhalation and steroids

CASE 5 INFECTIOUS MONONUCLEOSIS

8 yo M 7 d fever 39-40 no appetite, hospitalized at 4 mo for diarrhea and FTT, began to
snore a couple days ago and has some throat pain
PE: bilateral lymphadenopathy, breathing with open mouth white exudate on tonsils,
hepatosplenomegaly
Diagnosis
Infectious Mononucleosis
Causes of Infectious Mononucleosis
EBV
CMV
Adenovirus
HIV
Hepatitis
Labs
CBC - Leukocytosis, atypical lymphocytes, thrombocytopenia
Note - You see atypical lymphocytes in every virus, mycoplasma, typhoid, TB, serum
sickness
Blood smear atypical lymphocytes
Monospot IgM against RBCs
VCA acute infection
EBNA signifies past infection
EA (early antigen)
EBV related malignancies
Burkitts lymphoma
Burkitts leukemia
Nasopharyngeal carcinoma
HIV lymphoma
Hodgkins/non-hodgkins lymphomas
Leiomyosarcoma
Complications of Infectious Mono
Splenic rupture
Kissing tonsils obstruction, cor pulmonale
Coombs + cold agglutinin hemolytic anemia
Malignancies
Meningoencephalitis
Transverse Myelitis
Guillain Barre
ITP
Aplastic anemia
Rashes
Alice in Wonderland Syndrome
Treatment
Steroids if severe, gangcyclovir

Neonatal Diarrhea and FTT

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Infection
Milk allergy (give nutramigen)
Malabsorption CF, dissacharadase deficiency
Hyperthyroidism
Metabolic disorders galactossemia, fructosemia
Neglect
Diagnosis of Galactosemia
Looks for jaundice, FTT, cataracts, not feeding
Urine reducing substance
Diagnosis of Milk Allergy
Vomiting
Bloody diarrhea
Allergy type sxs
Diagnosis of Lactase Deficiency
Remove milk, observe, reintroduce after a few weeks (do this 3x)
H2 breath test
Treat with Pregestymil/nutramigen

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CASE 6 HYPOGLYCEMIA
2.5 yo f confusion and weakness for 1 hr
3 d prior, fever d/t viral pharyngitis, 24 hrs watery stools and vomiting
Admission sleepy apathetic child who is sweating
Temp 38.1 no evidence of meningitis oropharynx is red
D/Dx
Metabolic hypoglycemia, hyponatremia, hypocalcemia, uremia
Infectious meningitis/encephalitis
Toxins/Drugs
Intussusception (alternation of lethargy/restlessness)
Procedures
Electolytes
CBC
Blood cultures
Consider LP
Give IV fluids
Glucose was 29
Treatment
Dextrose IV
5g/kg (25%)
Hypoglycemia D/Dx
*Check ketones in urine*
Ketotic
* intake*
Non-ketotic
Hyperinsulinemia
Metabolic: glycogen storage disorders, carnitine deficiencies, MCAD deficiency
Hypoglycemic agents insulin or sulfonylurea
Addisons

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CASE 7 POST-STREPTOCOCCAL GLOMERULONEPHRITIS

5.5 yo male with history of infected leg wound 1 mo ago
Days ago, started to have eyelid swelling
PE alert no resp distress, no anemia, bp 150/90, legs wounds secreting yellow fluid
D/Dx of Edema
Pitting:
Hypoalbuminemia
-loss: nephrotic syndrome, protein losing enteropathy
-dec production: liver failure
-dec. intake: malnutrition/malabsorption
Heart failure
Non-pitting
Hypothyroidism
Lymphedema
Angioedema
What to Look for in Labs
Albumin
16,000 WBCs
CBC, Electrolytes
Urea/Creatinine
Urinalysis
Test for complement

Complement
Post-Streptococcal Glomerulonephritis
Membranoproliferative Glomerulonephritis
SLE (C4)

Na 132, K 4.9, Complement C3, C4 decreased, Urinalysis proteinuria, hematuria and casts
How to lower potassium
Sodium bicarbonate
Calcium gluconate
Kayexalate
Dialysis if refractory
Complications of renal failure
Acidosis
Electrolyte disorder
Hypertension
What is the diagnosis
PSGN

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CASE 8 INTUSSUSCEPTION
5 mo male, 7 hrs with no breast feeding, restless and vomiting after last few feedings
Pregnancy fine, Full term 4.7 kg
Causes of LGA
Hereditary
Gestational diabetes (big because insulin is similar to IGF-1)
Beckwith-Wiedemann Syndrome
Beckwith Wiedeman
Overproduction of IGF-2
Macrosomia in utero
Supplements for breast feeding
Postnatal somatic overgrowth
Vitamin D
Macroglossia
Iron - supplement at 6 mo
Hemihypertrophy
Abdominal wall defects
Milestones in 5 mo
Grasp bring to mouth
Hypoglycemia d/t hyperinsulinemia
Show excitement for food
incidence of tumors
Social smile
Roll over
Tx of infant of diabetic mother
Give IV glucose
Feed early
Complications of infant of diabetic mother
Polycythemia
Sacral agenesis
NT defects
Inc. likelihood of trauma in birth canal
Kidney issues
Small left colon
Inc. chance of heart problems (transposition, septal hypertrophy)
ARDS (insulin antagonizes surfactant production)
D/Dx of vomiting in the infant
Infection: Gastroeneteritis (rotavirus - classically begins with vomiting), UTI
Intussusception
Reflux
Allergy
Drugs
Labs for vomiting
Acid base
Electrolytes
CBC
Urinalysis
Pale and apathetic - think
Intussusception
What vaccine is related to intussusception?
Rotavirus vaccine
M/C Location of Intussusception
Ileocecal

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Diagnosis
Xray signs of bowel obstruction
US donut sign
Treatment
Barium/air/water enema

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CASE 9 ITP
4 yo m, Bloody nose since the morning and blue spots on the body that do not blanch on
pressure
10 d ago flu-like sxs and fever, vitals are normal
CBC - hb 12.5 WBC 8700 platelets 7,000
Electrolytes, Coagulation studies
Etiology of petechiae/purpura
Autoimmune destruction ITP, SLE
Thrombocytopathia Glanzmanns, Bernard-Soulier
Malignancy Lymphoma, Leukemia
Infection HIV
Drugs Heparin and Carbamazepine
Child abuse
Most likely in this case
ITP
Do you need to do a BM biopsy?
No, not if all the WBC count is normal and there is no anemia; also based on hx and PE
Complications of ITP
IC hemorrhage (tx w/ splenectomy after age 4)
Treat ITP
Thrombocytes are < 20,000
IVIG, steroids
RhD Ig, Splenectomy
Adverse Effects of IVIG
Flu-like infection
Aseptic meningitis
Renal failure
Thromboemboli
Hypotension
TRALI
Uses of IVIG
Kawasaki
Autoimmune disease (collagen-vascular disorders)
Immune deficiency (agammaglobulinemias, HIV)
Guillain-Barre
What else should you check for?
Lymphadenopathy
Splenomegaly (sequestration)
When is ITP considered chronic
After 6 months
Risk factors for chronic ITP
Females >age 8

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CASE 10 CMV (NEONATAL JAUNDICE)

4 week old male with no weight gain in 2 weeks and jaundice
Born at 3.2 full term, 2 weeks 3.5 kg, still 3.5 kg
Normal pregnancy except CMV, exclusively breastfed 3-4 hrs
2 weeks spit up more than usual, 3 d vomiting
No meds, no + fam history
PE: jaundice, fontanelles ok, thin, normal tonus
D/Dx FTT
*Non-organic*
Feeding disorders
Organic:
Metabolic
Endocrine
Malabsorption: CF
Heart diseases
Infection including UTI
GI obstruction
Milk allergy
D/Dx Vomiting
Reflux
Infection gastroenteritis, UTI
Obstruction: pyloric stenosis
Metabolic
Milk allergy
Malnutrition
Increased ICP

ABO Incompatibility
Low Hb with + Coombs
Mother has O, baby has A/B

D/Dx Indirect Hyperbilirubinemia

Physiologic
Hemolysis ABO/minor RBC, G6PD, Pyruvate kinase deficiency, spherocytosis
Disorders of conjugation: Gilbert, Crigler Najjar
Sepsis
Breast milk jaundice
UTI
Upper GI obstruction - pyloric stenosis, duodenal atresia, annular pancreas
Hypothyroidism??
Biliary Atresia

D/Dx of Direct Hyperbilirubinemia

Bile duct obstruction due to
Biliary atresia
inflammation and fibrous obliteration
Dx w/ percutaneous liver biopsy
Hepatitis
Tx Kasai followed by transplant
TORCHES
Allagille (paucity of the bile ducts)
Dubin Johnson, Rotor
Cystic Fibrosis
Metabolic disorder galactosemia, tyrosinemia, hereditary fructosemia
TPN
Alpha 1 antitrypsin
ALAGIL
LE
Diagnosis of UTI
Urinalysis
Pyruia, leukocyte esterase and nitrates

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10^3 colonies from catheter (10^5 in adults), 1 colony in suprapubic catheter
Tx of Neonatal UTI
IV abx
Pyloric Stenosis
Dx - US
Tx Heller myotomy
Features of TORCHES
General Features: SGA, microcephaly, jaundice, hepatosplenomegaly
Hearing in rubella and CMV
Cataracts in rubella
Purpuric rash in CMV and rubella
Intracranial calcifications in CMV
Dx CMV
Urine for CMV
Tx of CMV
Gangcyclovir
- Side effect: neutropenia
CONGENITAL CMV

CONGENITAL RUBELLA

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CASE 10 FUO
16 yo m, fever 3 weeks 38-39.5 degrees, otherwise healthy, no family history
Leg pain at the beginning of diagnosis, but passed
Weak, abx amoxicillin + acetomenaphin for 1 week
Normal physical exam
Definition of FUO
Prolonged fever >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
Causes
Infectious (RTI, UTI, CNS, endocarditis, osteomyelitis, abscess)
Viral
Bacterial
Parasite
Rheumatologic JRA, SLE, RF, vasculitis, Behcet, Kawasaki
Autoimmune IBD
Malignancy lymphoma, leukemia
Periodic disorders FMF, PFAPA
Drug fever
Munchausen by proxy
Labs
CBC (infection, leukemia)
WBCs 7,500 50% neutrophils, 45% lymphocytes
Platelets 200,000
Hb 13.2

Infectious causes of FUO

Actinomyces
Cat Scratch
Brucella
Campylobacter
Tuleremia
Listeria
Mycoplasma
Salmonella
TB
Yersinia
Chlamydia
Ricketsia
CMV
EBV
Hepatitis
HIV

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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 Pain
Infection/Inflam. acute gastroenteritis, mesenteric adenitis, PUD/gastritis, peritonitis,
pancreatitis, hepatitis
Trauma
Obstruction intussusception, incarcerated hernia, appendicitis, SBO
Gynecologic torsion, PID
Extraintestinal pneumonia, diskitis, pharyngitis, UTI
Systemic DKA, sickle cell, HSP, FMF, malignancy, splenic sequestration (hemolysis)
A/I IBD
IBS
Psychogenic
Labs
CBC, amylase, LFTs
Urinalysis
CXR, AXR
CT/US of abdomen
D/Dx of Hemolytic Anemia
Membrane defect:
- Hereditary spherocytosis
- Elliptocytosis
- Pyropoikilocytosis
Enzymatic Defect:
- G6PD
- Pyruvate kinase deficiency
- Hexokinase deficiency
Hemoglobin defects
- Sickle cell
- Thalassemia
Immune hemolytic anemia
- Transfusion reaction
- Rh incompatability
- Autoimmune
- Lymphoprolyferative
- CT diseases
- Drugs
- Idiopathic
Extrinsic
- Microangiopathic hemolytic anemia
o Heart valve
o TTP/HUS
o DIC
- Infections
o Babesiosis, Malaria
- Chemicals
- Venoms
- Thermal injury
- Hypophosphatemia
Defect in Sickle Cell

Hereditary Spherocytosis
AD d/t spectrin abnormality
Jaundice, gallstones
retics, indirect bili
LDH, haptoglobin
Coombs Dx: osmotic fragility test
Tx: splenectomy >5 yo

G6PD
X-linked
No regeneration of glutathione (protects
against oxidative stress)
Can be triggered by infection, fava beans,
drugs
Abd pain, vomiting/diarrhea, fever,
hemoglobinuria
retic, bite cells, Heinz bodies

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Valine switched for glutamic acid on 6th position of chain
O2 rigid crystal formation RBC sickling
Features of Sickle Cell
Appears after 6 mo (d/t HbF)
Jaundice and gallstones
Vaso-occlusive pain crises
- Leg ulcers
- Stroke
- Swollen hands/feet (dactylitis)
- Can mimic surgical abdomen
Acute abdominal crises sickling in mesenteric artery
- Acute chest syndrome
Splenomegaly splenic infarct
Infection
- S. Pneumonia (SEPSIS)
- H. Influenza
- Salmonella osteomyelitis
- Parvovirus (aplastic crisis)
Diagnosis of Sickle Cell
*Hgb Electrophoresis* HbS (90%) HgF (2-10%) no HgA
Hg ranges from 5-9 g/dL
Smear: sickle cells
Treatment of Sickle Cell
Pneumococcal Vaccine 2 yo and 5 yo
Prophylactic penicillin by 4 mo
Hydration and analgesics for painful crises
Exchange transfusion for priapism
If the patients initial complaint was anemia, what labs can you check to discern the cause?
Reticulocytes
MCV (average sidze of RBC)
MCH (Hb/RBC)
RDW (RBC size)
Ferritin
Transferrin
TIBC
Blood smear
Electrophoresis
Causes of low MCV
Iron 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)
Splenomegaly
Pale green-brown complexion
Facial deformities (marrow expansion)
Does not respond to iron supplementation
How do you make the diagnosis of thalassemia minor?

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Hb Electrophoresis: HbA2 >3.4%

Thalassemia Blood Smear

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CASE 12 PYELONEPHRITIS
Recommendations upon discharge home
One week after abx tx, culture to ensure sterile urine and follow up with cultures for 1-2 yrs
Renal US to r/o hydronephrosis or renal/perirenal abscess
VCUG after inflammation resolves in ~1-2 mo
If 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 VCUG
Investigates the presence of valves, reflux and diverticulum
What can cause recurrent UTIs
Vesicoureteral reflux (occurs in 30-50% of kids with UTIs)
What is reflux
Abnormal backflow of urine from bladder to kidney
d/t junction incompetence of the vesicoureteral junction (shortened submucosal tunnel in
which the ureter inserts through the bladder wall)
Causes of Reflux
Anatomic deformity of the ureterovesical junction
Duplication of the ureters/ectopic ureter/ureterocele
Neuropathic bladder (myelomeningocele, sacral agenesis)
Ureteropelvic junction obstruction
Inheritted
Bladder outlet obstruction/foreign body
Grades of VUR and treatment of each
1. 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
o <1 yo: abx prophylaxis
o 1-5 yo: abx prophylaxis, if bilateral surgery
o 1-5 yo w/ scarring: surgery
o 6-10 yo: surgery
Generally resolves spontaneously by age 6-7
What is the antibiotic used for prophylaxis
TMP-SMX, nitrofurantoin 1ce/d
Cultures every 3-4 mo
VCUG every 12-18 mo
Check growth chart and BP
Goal of treatment
Prevent pyelonephritis and renal injury

CASE 13 RECURRENT OTITIS MEDIA AND CELIAC

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14 mo m who suffers from recurrent otitis media since age 4 months is referred for
evaluation of diarrhea, loss of appetite and irritability which started 3 mo prior to his referral
Medical Problem List
Prolonged diarrhea with loss of appetite
Recurrent otitis media
Additional history
Frequency of ear infections
Most Common Pathogens in Otitis Media
S. Pneumonia
H. Influenza
Moraxella Catarrhalis
Antibiotics for Otitis Media
Amoxicillin
Treatment Failure
d/t Moraxella resistant to amoxicillin or beta-lactamase producing hemophilus
occasionally pneumococcus has intermediate resistance to amoxicillin
Antibiotics used in treatment failure
TMP-SMX
Amoxicillin with clavulanic acid
2nd gen cephalosporin
Erythromycin and a sulfa
Preventing recurrence of otitis media
Avoid passive smoking
No reclining with a bottle
Removal from day care
Immune workup to r/o IgG subclass deficiency
In some cases, preventative abx therapy
Back to the persistant diarrhea, additional details?
Diet
Frequency
Blood, mucus, fat present
Relation to food or meal times
Fever/Vomiting
Rash/Systemic symptoms
Others with diarrhea
PE shows thin child with distended abdomen and chronic changes of the eardrums
Weight of 7500g, Child sits w/o support, crawls but does not stand
Comments about weight
Low weight for 14 mo, but must check the growth chart
Birth weight was 3100g, grew on 25th percentile until 6 mo. Only gained 100g from 9 mo to
14 mo
Height velocity also slowed and dropped from 10th to below the 3rd
Significance?

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Clear flattening of the growth curve since age of 9 mo suspicious for medical illness that
started at this age
Definition of failure to gain weight
Crossing 2 weight percentiles
Conditions that could cause diarrhea and flattening of the growth curve in this child
GI infection (Giardia, campylobacter)
Diarrhea d/t recurrent abx use for ear infections
Malabsorption syndrome (CF or celiac)
Allergy: Cows Milk Protein Allergy
Excessive juice ingestion
Labs to Evaluate Malabsorption
Stool collection for fat
Stool reducing substances to ID sugars lactose deficiency
Stool examination to look for protein (alpha-1-antitrypsin) protein-losing enteropathy
D-Xylose Test
- Give minimally metabolized sugar D-xylose and measure concentration in blood one
hour later
- Level <25mg/dl is suggestive of malabsorption
Stool culture and microscopy
Simple Dx Test for CF
Sweat Test level >60 mel/L is and indicates CF (40-60 is suspicious, must repeat the
test)
Verification of Celiac
Antibiodies
- Anti-gliadin
- Anti-endomysial
- Anti-tissue transglutaminase
- Test for IgA fraction, if deficient, test for IgG for TTG (antigliadin IgG assay may be
useful for IgA deficiency)
Histology
- Subtotal villous atrophy with flattening of the villi, deepening of the crypts and
lymphocytic infiltration of the intestinal epithelium
Extraintestinal Manifestations of Celiac
A/I thyroid, IDDM, Addison
Dermatitis herpetaformis
Arthritis
Anemia (iron deficiency)
CNS poor school function, ataxia, epilepsy
Treatment for Celiac
Gluten-free diet
- No wheat, barley, rye
- Must continue diet for life
o Assess treatment success w/ clinical improvement and reversal of + serologic
tests
o Stopping results in reccurence of the diarrhea, growth disturbances, disturbances
in development of secondary sex characteristics and the possibility of small
bowel lymphoma after many years of improper treatment

25

CASE 14 INFECTIOUS MONONUCLEOSIS 2

4 yo m w/ 2 d hx of high fever, poor appetite and refusal to drink; referring dr notes
pharyngitis w/ considerable exudates on the tonsils and signs of dehydration
Acute Management
Vitals make sure stable
Full hx with past illnesses, vaccination hx and current illness and physical
Child born AGA, past one episode of pallor w/ jaundice at 2.5 yo received a blood
transfusion, otherwise well
Current illness started a few days before the onset of the fever; child had nasal discharge
and poor appetite and afterwards developed high fever w/ refusal to eat or drink
No one in family w/ illness
Not vaccinated
Problem List
Acute febrile illness with pharyngitis
Dehydration
Jaundice and anemia requiring transfusion
Unvaccinated
PE nasal stuffiness, mouth breathing; diffuse white-gray exudates at the back of the throat;
dry tongue, you can palpate very enlarged painless cervical lymph nodes. Exam of heart
and lungs is nml. Abd palpation spleen edge palpable 2 cm under the costal margin, liver
edge palpable, no rash
How do you find out more about state of hydration?
How much he drank
Last time he gave urine
Assess turgot and dryness of mucus membranes
Labs urea, creatinine and urine
D/Dx of Pharyngitis w/ High Fever
GAS
Viral EBV, CMV, Adenovirus
Diptheria in unvaccinated child
Work-Up
Throat culture
CBC
Serology for EBV, CMV
M/L dx
Mononucleosis
Serological Tests to Confirm
CBC lymphocytosis, monocytosis, atypical lymphocytes and mild thrombocytopenia
Liver enzymes mildly
Cause of sudden anemia and jaundice that needed a blood transfusion at 2.5 yo?
Acute hemolysis m/p G6PD
Triggers of acute hemolysis in G6PD

26
Exposure to fava beans
Drugs sulfa, methylene blue, antimalarials, quinolones
Viral Infections
Inheritance
X-linked

CASE 15 LYMPHADENITIS
12 yo boy with 5 d fever and swollen mass in left neck. Only tx is antipyretics, generally
healthy
History
Length of swelling
Other sxs
Pain
Trouble swallowing
Fever
Animal contacts (rabbits, mice, cats, cows)
TB exposure
Recent infections
Weight loss, fatigue, night sweats
Physical Exam
Localized vs. generalized lymphadenopathy
Hepatosplenomegaly
Check if firm/fixed (malignancy suspicion)
Case - Does not look toxic, obvious submandibular mass, no signs of infection, no
hepatosplenomegaly
D/Dx of Neck Mass
Infection local bacterial, viral, reactive lymphadenitis, tonsillitis
Tumor lymphoma, leukemia, sarcoma
Immune/CT disorder Kawasaki, SLE, JRA, serum sickness, GVHD
Cyst cystic hygroma, branchial cleft cyst
Histiocytosis X
Infectious Causes of Lymphadenitis
*S. Aureus*
Strep pyogenes
EBV
CMV
Mycobacteria (typical and atypical)
Bartonella hensliae
Tuleremia
Toxoplasma
Yersinia
Brucella
HIV

27

CASE 16 LARYNGITIS
10 mo male brought to ER with SOB, coughing, in the ER, nurses noted that he had barky
cough
First actions
General appearance and vitals
History and Physical
Details
Length of cough
Sudden w/ no preceding illness (suggestive of aspiration)
Fever
History of trauma
Meds
Most Frightening Cause of Stridor
Bacterial epiglottitis
Bacterial tracheitis
Causes S. Aureus, Nontypable Hemophilus and viral
D/Dx of Stridor
Infectious laryngeal, epiglottal or tracheal inflammation
Structural laryngomalacia, tracheomalacia, vascular ring
Foreign body
GERD
Hypocalcemia
Rheumatic JIA (d/t cricoarytenoid arthritis)
Trauma
Allergic angioneuritic edema
Case: always blue appearance, fever, since yesterday barky cough and problems breathing
Mechanism of Cyanosis
Concentration of deoxygenated hemoglobin exceeds 5g/dL
d/t congenital heart diseases ( R to L shunt), respiratory (V/Q mismatch),
methemoglobinemia (iron is reduced state Fe+3)
Chief Etiology of Viral Laryngitis
Parainfluenza
Chief Etiology of Bacterial Tracheitis
Staph Aureus
Treatment for laryngitis
Cool mist
Oxygen
Epinephrine (racemic)
IV Steroids (if severe)
Intubation
Case - Mother finds discharge letter from prior hospitalization TOF w/ sat 95%
Characteristics of TOF
Conotruncal defect

28
1.
2.
3.
4.

RVOTO
RVH
Overriding aorta
VSD

What is the Saturation of TOF

Usually sat 75-85%
Can be higher if pink fallot
- Can last until 1 yo when cyanosis becomes dominant (hypertrophy becomes more
severe)
What in the ABG will pinpoint acute hypoxia of the tissues
Metabolic (lactic) acidosis at oxygen saturation <70%
Difficult to hear a murmur on auscultation, what does this say?
Tet spell
- More severe RVOT
- m/c in 1-2, after wakening from sleep or stressful event
Treatment of Tet Spell
Knees to abdomen to increase peripheral vascular resistance
Morphine
O2

29

CASE 17 SEPTIC ARTHRITIS

History
Fever (+/- chills)
Trauma
Infection (URTI)
History of rheumatologic/AI disorders
Rash
B symptoms
Differential Diagnosis
Infectious Septic arthritis, Osteomyelitis, Lyme disease, Rubella
Transient Synovitis
Trauma
Leg Calve Perthes
Slipped Capital Femoral Epiphysis
Malignancy (osteosarcoma, Ewing, leukemia)
Heme Hemophilia, Sickle cell
Rheumatologic vasculitis (HSP), RF, JRA, FMF
Which diagnosis must be treated urgently
Septic arthritis risk of vascular injury in the hip
Physical Exam
Check limp anthalgic, trendelenberg
Labs
Blood culture
ESR, leukocytes
Joint aspiration
What level of WBCs in the joint indicated septic arthritis
>50,000
How can you differentiate between septic arthritis and osteomyelitis
Bone scan w/ radioloabeled technetium biphosphate
Organisms in Septic Arthritis
S. Aureus
GAS
Pneumococcus
Under 4 yo
H. Influenza type B
Kingella
In teens
N. Gonococcus
Antibiotic
Oxacillin
Cephalosporin 1st generation (cefzolin)
Allergies to penicillin clindamycin or vancomycin
For children <4, must cover H. Influenza Cephalosporin 2 nd generation

30

CASE 18 RHEUMATIC FEVER

What do you need to diagnose rheumatic fever?
2 major criteria
1 minor + 2 major
Along with evidence of Strep infection
Erythma Marginatum
Major Criteria
Joints: polyarthritis (70%)
Heart: carditis (50%)
Nodules (subcutaneous) (2-10%)
Erythema marginatum (10%)
Syndehams chorea (15%)
Minor Criteria
Fever
Arthralgia
Fever
ESR or CRP
Prolonged PR interval (>0.2ms)

Subcutaneous Nodules

Evidence of Recent Strep Infection

ASO titer
Antihyaluronidase
Antistreptokinase
Anti-deoxyribonuclease B
Treatment
10 d course of Benzathine Penicillin G to eradicate streptococci (erythromycin if allergic),
aspirin, rest
Prophylaxis initiated
- Penicillin IM q 3-4 wks or Penicillin PO 3x/d
- At least throughout adolescence
75% recover within 6 weeks; 5% symptomatic beyond 6 mo

CASE 19 HENOCH SCHONLEIN PURPURA

31

10 yo boy complaining of l. ankle pain and limping for 2 d.

What do you want to know
Past med hx
Start of swelling
Trauma
Fever
Rash
Prior febrile illness
Previous joint pain
Change in bowel habits
B symptoms
Mucus membrane ulcers
Fx history of arthritis, IBD, FMF
PE antalgic limp on left leg, no mouth ulcers, normal heart, lungs, abdomen, no rash
Left ankle swelling, warm to touch, no erythema, limited flexion, no point tenderness
Other joints nml
Definition of condition
Monoarthritis of the left ankle
Possible Etiologies of Monoarthritis
Infectious
- Septic arthritis: S. Aureus, GAS, Strep Pneumo, Kingella, N. Gonorrhea, N. Meningitides,
Hemophilus
- Osteomyelitis
- Lyme disease
Reactive
- Post-streptococcal
- RF
- N. Gonorrhea
- Post gram (shigella, salmonella, Yersinia, campylobacter)
- Post viral (VZV, parvo)
- Transient synovitis
Rheumatologic
- JRA
- SLE
- HSP
- Dermatomyositis
- IBD associated
Hematological
- Hemophilia
Neoplastic
- Leukemia
- Lymphoma
- Bone tumors (Ewing/Osteosarcoma)
Progress in the diagnosis
CBC
Chemistry (include renal function, LFTs, LDH, Alkphos)
CRP, ESR
ANA, RF, ASLO
Urinalysis (SLE, HSP)

32
Blood culture (if fever)
XR of joint
Aspiration of synovial fluid if suspecting septic arthritis (not in this pt)
Pt returns the next day w/ rash and swelling of feet and hands, what would you like to know?
Type of rash
Rash is non-blanching red-purple papules over the butt and post. Thighs
Swelling on dorsal aspect of hands
Diagnosis
Henoch Schonlein Purpura
Confirmation of diagnosis
Skin biopsy leukoclastic vasculitis
Other manifestations of HSP
Systemic vasculitis
GIT abd pain, bleeding, intussusception, pancreatitis
Renal hematuria, nephritis, nephrosis, possible chronic kidney disease
CNS seizures
Treatment of HSP
NSAIDs for arthritis
Steroids for CNS, GIT, Renal involvement

33

CASE 20 NEONATAL FEVER

3 wk old f presents w/ fever of 38.5 and rhinorrhea since morning
What would you like to know
Pregnancy, delivery, term, maternal infection
Family members ill
Normal pregnancy and delivery, term AGA, no maternal illnesses, 2 yo bro with URTI
Physical exam temp 38.5, HR 130
Alert, normal skin color, normotensive fontanelle, rhinorrhea
Pinkish macular rash on soles
Define the case
Neonatal fever
Etiologies of Neonatal Fever
Community Acquired
- Us. viral
- Bacterial (10-15%): sepsis, meningitis, pyelonephritis, septic arthritis, osteomyelitis,
enteritis, omphalitis
- Bacteremia
o M/C: E. Coli, Salmonella, Hemophilus Influenza B, S. Aureus
Late Onset Neonatal Infection
- Sepsis or Meningitis
o M/C: GBS, Listeria, Monocytogenes, HSV
How do you proceed
CBC
Blood culture
Urinalysis and urine culture
LP (note nml CSF for neonates protein 20-170mg%, glucose 44-128% of blood value)
Chemistry (glucose)
CRP
Labs show leukocytosis
LP shows WBC 10, PMN 4, RBC 5, Glucose 65, Protein 110
In light of lab results, next step?
IV abx with 3rd gen ceph (for gram + and gram -) + ampicillin for listeria

34

CASE 21 NON-RESOLVING PNEUMONIA

5 yo previously healthy boy admitted with fever up to 40 for 4 d and cough of 1 d
Looks ill, toxic and is grunting
How would you examine the pt
Assess general condition, amt of resp distress
Temperature
RR, HR
Chest exam mediastinal shift, percussion, breath sounds
Results of PE temp of 40, RR 36, HR 136, mild-moderate retractions and minimal central
cyanosis
No mediastinal shift, dullness on percussion and air entry over RLL with bronchial
breathing
Tests to Order
CXR
CBC
Blood gases
Blood culture
Results
CXR RLL consolidation w/ slight pleural effusion
CBC WBC 25,000, 89% PMNs, 4% bands, 440,000 platelets, Hgb 11, O2 sat 89%
Blood gases pH 7.27, pO2 84, pCO2 27
Diagnosis
Lobal pneumonia with pleural effusion, m/p d/t S. Pneumonia
Treatment
2nd gen cephalosporin - Cefuroxime
Supportive O2, hydration, consider draining pleural effusion
Follow-up pt for 48-72 hrs
Pt shows no improvement in general well being, fever of 40 persists and there are no
changes on physical findings
D/Dx of Non-Resolving Pneumonia
Not receiving the prescribed abx, or dosage not sufficient
Insensitive organism TB, atypical pneumonia, legionella
Abscess formation
Underlying foreign body
Underlying lung abnormality or immunodeficiency
What do you do now?
Repeat x-ray
Check blood culture
CXR shows pleural effusion
Blood culture S. Pneumonia resistant to Penicillin and intermediate sensitivity to
cephalosporin
How do you Proceed?
Pleural drainage

35
Alter antibiotic to vancomycin
Follow-up
Clinically document resolving fever, clinical stages of resolving pneumonia ( air entry,
crepitations)
Improvement in CBC, x-ray
May follow and request additional drainage of pleural fluid (may use streptokinase to
facilitate removal of septa/pus)
Prognosis
Excellent

36

CASE 22 ALL
5 yo m brought to you d/t increased bruising over the legs in the past 2 weeks
Relevant History
Fever
Bone pain
Weakness
Previous illness prior to present disease
Trauma
Family hx
Case child is from reliable family with no suspicion of child abuse, intermittent fever of 38
and has been off color
Important features of clinical exam
Appearance (of child and bruising)
Mucous membranes for bleeding
Sxs of anemia
Lymphadenopathy
Hepatosplenomegaly
Case child looks ill, anemic, presence of lypmadenopathy in neck, axilla and groins, with
hepatosplenomegaly
Labs needed to proceed
CBC
Case WBC 30,000, Hb 8, platelets 60,000, 90% lymphoblasts
Differential Dx of ITP versus Leukemia
In ITP
- Normal WBCs and Hg
- Normal peripheral smear (except thrombocytopenia)
- Normal or megakaryocytes
Further Investigation
*Bone marrow*
Immunophenotype of lymphoblasts
Serum uric acid
Ca
Phosphorus
Blood Urea
Electrolytes
Principles of Therapy
Prevent tumor lysis syndrome
Infection Prevention abx and isolation if necessary
Induce remission
- Cytotoxan
- Vincristine
- Prednisone
- Doxorubicin
Consolidation
- May add 6MP, 6TG or cytosine arabinoside

37
Prevent CNS recurrence of the disease
- Methotrexate to CSF
- Radiation of head
Maintenance therapy
- 2 yrs methotrexate and 6MP
- May add vincristine and prednisone
Long term complications endocrine, second malignancy
ALL Blood Smear

38

CASE 23 FTT-CHF
4 mo old f w/ FTT. Born at 37 weeks at 2500g, normal pregnancy; parents are healthy with 6
children.
PE small w/o any dysmorphic features, weight of 4200g
History
Pregnancy and birth history
Head size and length at birth
Growth over the past 4 mo
Height of the family
Breast feeding/nutrition
Illnesses
Bowel movements
Vomiting
Milestones
Case born at 37 weeks, 2.5 g, length of 48 cm, head circumference of 34 cm; the mother
says that she gets enough milk but that it seems to be difficult for her because she is sweaty
and tired after
Currently 4.2 g, 58 cm in length, 40 cm head
What does this show?
Nml height and height circumference growth, weight is the problem
Nomal weight gain: 600-100 g/mo
What do you want to know?
Weight each month at Tipat Chalav
Case last month she was 3.0g
PE think, head is normotensive, HR 140, BP 80/50, 98% saturation, RR 60, lungs, good
bilateral air entry without any crackles or crepitations, heart has a murmur 2/6 holosystolic
at the LSB, soft abdomen, liver 3 cm below costal margin, spleen is not enlarged
What would you like to order d/t this physical exam
CXR
EKG
ECHO
Case CXR shows cardiomegaly and enlarged vasculature, EKG is normal, ECHO shows VSD
What do these findings show?
Congestive heart failure
Increased flow through the pulmonary vasculature
What is the treatment?
Afterload reduction (diuretics)
Digoxin
Surgery (30-50% resolve on their own muscular VSDs more likely to resolve)
The mother is angry that this was not dx at birth, why was the murmur not heard at this
time?
The circulation has not completely changed and there was pulm vascular resistance, so
the shunt had not moved from RL to LR yet. After the first week, the pulm vasc
resistance declines and then you can have the first symptoms.

39

CASE 24 - PERTUSSIS
2 mo m with cough and vomiting
D/Dx of Cough
Infection
Reflux
Foreign body
Cardiogenic
TE fistula
Anatomic lesion
- Bronchogenic cyst
- Vascular ring
M/L Bacterial Infections at this age
Chlamydia
Pneumococcus
Next step
CXR
Diagnosis
Pertussis
How do you confirm?
Clinical
- Inspiratory whoop
- Post-tussive emesis
Lymphocytosis
CXR perhilar infiltrate or edema (butterfly pattern)
Positive immunofluorescence test or PCR on nasopharyngeal secretions
- Nasal wash is reliable if +, unreliable if
PCR IgA against Pertussis (dx child and family)
Stages of Pertussis
Catarrhal wet stage w/ congestion and rhinorrhea (3 d)
Paroxysmal
Convalescent number and severity of paroxysms drops (3 mo)
Complications
Apnea (cyanosis)
Physical sequel of forceful coughing
- Brain hypoxia/hemorrhage
Secondary infections (bacterial pneumonia)
Treatment
Macrolide (azithromycin) for pt and household contacts
- spread of the organism, does not affect illness In paroxysmal stage (because it is
toxin mediated)
Isolation until 5 d of therapy
Admition if
- Infant <3 mo
- Apnea
- Cyanosis
- Resp. distress

40

41

PICTURES
1. ERYTHEMA MULTIFORME
Red target lesions
MCC: HSV, Mycoplasma
Mucosal involvement 20-30% of body SJS
>30% body TEN
2. HAIR TOURNIQUET
May or may not be child abuse
3. ZOSTER
You have had varicella
>risk if you had varicella <1 yo

4. CUTTING
5. BRONCHIECTASIS
Abnormal and permanent dilation of bronchi
Consequence of inflammation and destruction of the structural components of the
bronchial wall
Increase in size and loss of definition of bronchovascular markings, crowding of bronchi,
and loss of lung volume
More severe forms - cystic spaces, occasionally with air-fluid levels and honeycombing
Compensatory overinflation of unaffected lung
D/T: CF or Ciliary dyskinesia
Dx by CT

42

6. FOOTBALL SIGN
Pneumoperitoneum

7. PHOTOSENSITIVITY RASH
Occurs in small % exposed to photosensitizers and
light
Dermatitis appears within 24 hr of re-exposure to the
photosensitizer and light
T-cell-mediated delayed hypersensitivity
Confined to light-exposed areas
D/Dx: contact dermatitis (poison ivy or oak) - itchy
Dx by photopatch testing
Medications (tetracycline, amiodarone, and
sulfonamides, psoralens, chlorthiazides,
barbiturates, griseofulvin, thiazides, quinidine,
phenothiazines)
Systemic disease: SLE, porphyria, xeroderma
pigmentosum (a defect in DNA repair), Bloom syndrome
8. PERICARDITIS EKG
Etiology
o Viral: coxsackievirus B, echovirus, adenoviruses, influenza A and B, enterovirus,
mumps, EBV, HIV, HSV 1, VZV, measles, parainfluenza type 2, and RSV
o Bacterial: acute rheumatic fever, S. Aureus, H. Influenza, Neisseria meningitides,
Strep, TB
o Collagen-vascular diseases
o Uremia
o Post-pericardiotomy
o Meds: dantrolene, oncologic agents
Us. 1-3 weeks
EKG: ST elevation followed by return to baseline, followed by T wave inversion; also
electrical alternans (beat to beat variation in QRS)
9. MONGOLIAN SPOT
Common in presacral area
Us. Disappear
10. MARFANS (hypermobility syndrome)
Mutation in fibrillin gene
Tall stature w/ increased arm span to height ratio
Aortic root dilatation, mitral valve prolapse, mitral regurgitation, or aortic regurgitation

43

11. LYMPHEDEMA
Congenital lymphedema
o Turners, Noonan, and Milroy disease
Lymphedema praecox
o Progressive lower extremity edema
o Usually in females (1025 yr old)
Acquired obstruction of the lymphatics
o Tumor
o Postirradiation fibrosis
o Filariasis,
o Postinflammatory scarring
o Injury to the major lymphatic vessel

12.INTUSSUSCEPTION
13.INTUSSUSCEPTION
US: donut sign
CXR: obstruction

14.INSECT BITE
Preseptal cellulits (us. d/t insect bite, wound or
extension from another source e.g
sinuses/dental)
Infection of the eyelid anterior to the orbital
septum
Presents with tenderness, erythema, warmth,
swelling and eyelid discoloration
NOTE: orbital cellulitis infection posterior to the
orbital septum + changes in visual acuity,
eye movements, proptosis, more common w/
fever and systemic sxs
15. IMPETIGO
Etiology: Staphylococcus Aurerus (bullous) or GAS (nonbullous)

44

16.HURLER SYNDROME
Mucopolysaccharidosis I
Short body trunk, flat face, depressed nasal
bridge, buldging forehead, hepatosplenomegaly,
skeletal deformity, coarse facial features, corneal
clouding, large tongue, hearing loss,
developmental delay
17. CASTS
Granular
casts
Hyaline
WBC casts
RBC casts

casts

18. ERYSIPELAS (FMF)

Tender, hot, swollen, sharply bordered red
lesions on the skin of the lower extremities
Usually located between the knee and ankle,
on the dorsum of the foot, or in ankle region
Dermatitis is often accompanied by abrupt
elevation of body temperature 24 to 48 hours
Direct immunoflurorescence shows C3 deposits

19. EHLERS DANLOS

Disorder of collagen structure causes easy bruising and poor wound healing

20. PNEUMOTHORAX
Consider underline cause
Asthma
CF
Bronchiectasis,
Pleuropneumonia
Chest trauma or surgery
Hyper-laxity of soft tissue
(Marfans)

45

21. BRONCHIECTASIS (SEE ABOVE)

22. CLUBBING (CF) and SKIN VASCULITIS

23. TELANGIECTASIA
Ataxia telangiectasia
AR CH11
Slowly progressive ataxia (inability to
walk by adolescence)
Telangiectasia after 2 y.o. (most
prominent on the conjunctiva, nose and
exposed extremities)
risk of brain and lymphoid tumors
24. BITE CELLS (SEE LATER)
25. STRIAE OF PUBERTY
26. DDH
d/t abn growth and dvlpt of the hip resulting in abn
relationship b/w femur and acetabulum
Dx: assymetric skin folds, Barlow and Ortalani
(dislocate w/ flexion and adduction followed by
replacement with abduction), US, Xray
Untx Trendelenberg at 12 mo/waddling gait
Tx: Pavlic Harness if <6 mo
27. HYPOTHYROIDISM (SEE ABOVE)

46

28. COXSACKIE (HFM Disease)

29. HORNERS SYNDROME

Interruption to sympathetic innervation of
the eye
Ptosis, miosis, anhydrosis
30% of neuroblastomas arise in the
cervical/thoracic region and may present
Horners

w/

30. HORNERS SYNDROME

31. MEASLES
Brick red maculopapular rash starting on the
face and spreading to trunk/extremities
Fever, cough, coryza, conjunctivitis, and
pathognomonic exanthem (ie, Koplik spots), followed by an erythematous maculopapular
rash on the third to seventh day
May have leukopenia/thrombocytopenia
Vitamin A morbidity and mortality

47

32. ACUTE OTITIS MEDIA

33. STEVEN JOHNSON SYNDROME
Immune-complexmediated hypersensitivity
complex
Severe expression of erythema multiforme
Typically involves the skin and the mucous
membranes
GI and respiratory involvement may progress to
necrosis
Ass. w/ mycoplasma, drugs (abx and anticonvulsants)
Do not tx with steroids
Can become TEN
34. TONSILLITIS
Etiology
GAS
Diptheria
EBV, CMV, Adenovirus, HIV
35. VARICELLA
Vesicular rash with centripedal
distribution
Dew drops on a rose petal sparing
palms and soles
Rash preceded by prodrome of fever, malaise,
anorexia, headache and abd pain 24-48 hrs prior
Transmitted via resp droplets and skin lesions
Establishes life-long infection in sensory
ganglion cells
Dx: PCR from vesicle swab
Suprainfection: Strep or Staph
Tx: only VZV pneumonia or immunocomp w/
acyclovir
VZIG for post-exposure prophylaxis in immunocomp or newborns exposed to maternal
varicella

48
36. ERYTHEMA MARGINATUM
1 of the major criteria for RF
<10% of pts
Pink, erythematous macular rash with a clear
center and serpiginous outline
Nonpruritic, evanescent and migratory
Disappears when cold, reappears when
warm
Primarily on trunk and proximal extremities,
NEVER on the face
37. COXSACKIE (HFM DISEASE) SEE ABOVE
38. WHITLOW
HSV-1 is the M/C agent
Infection involving the finger
d/t autoinoculation from primary oropharyngeal lesions as a
result of finger-sucking or thumb-sucking behavior in patients
with herpes labialis or herpetic gingivostomatitis

39. OXALATE IN URINE

Common in first few weeks of life, brick
Increased w/ dehydration

colored

40. RAYNAUDS
Digital arterial spasm
Raynaud phenomenon: induced by exposure to cold, affects the fingers, toes, and
occasionally the ears and the tip of the nose
3 stages: pallor, cyanosis, and finally erythema (need 2/3)
Episodes can vary in duration from minutes to hours
Diseases w/ Raynaud: scleroderma, juvenile dermatomyositis or overlap syndromes in
which elements of several rheumatic diseases (e.g., systemic lupus erythematosus,
dermatomyositis, arthritis, and scleroderma)
41. ATOPIC DERMATITIS
Us. have elevated serum IgE levels
Nearly 80% of patients with AD develop allergic rhinitis
and/or asthma

49

42. BLOOD SMEAR

A G6PD (bite cell)
B G6PD (two "blister cells",
polychromatic macrocytes and
irregularly contracted cells)
C Hereditary Spherocytosis
D Paroxysmal cold hemoglobinuria,
with erythrophagocytosis (a red cell
that has been phagocytosed by a
neutrophil)
o Defect in the RBC membrane
o Test with Hams acid hemolysis
test or flow cytometry

43. NEUROBLASTOMA
Arise from neural crest cells
Sometimes spontaneous regression
Small round cells
Sx: orbital protosis, blue nodules, mets to
BM, lymph nodes, skin, Horners (in the
cervical/thoracic region), opsoclonusmyoclonus (dancing eyes/feet
secondaray to paraneoplastic antibodies)
Dx: homovanillic acid and
vanillymandelic acid in urine
MIBG radioisotope scan to detect small
primaries and mets
44. GEOGRAPHIC TONGUE
Inflammatory condition of the tongue
Characterized by discolored regions of taste buds or
sometimes even cracks in the surface of the tongue
Usually chronic
Frequently manifests after eating exacerbating foods,
during times of stress, illness, or hormonal surges
M/C in those w/ atopic dermatitis, asthma
45. VIRAL EXANTHEM

50
Measles, Rubella, 5th disease (parvovirus
B19)
6th Disease/Roseola infantum (HHV-6)

46. LISCH NODULES

Melanocytic hamartomas that are either yellow or
brown
Pathognomonic of neurofibromatosis type 1
Incidence with age
Neurofibromatosis: AD/sporadic
Caf au lait spots (also seen in McCune Albright,
Turners)
Lesions (need 2+):
>6 caf au lait spots (>15mm, 5mm for children)
Neurofibromas
Optic gliomas
Axillary and inguinal freckling
Lisch nodules
Bony changes (sphenoid dysplasia, thinning of long
bone cortex)
1st degree relative
NOTE: NF2 bilateral schwannomas

47. COWS PROTEIN MILK ALLERGY

Reactive to one of the proteins in milk (M/C alpha S1-casein)
Sxs: gastrointestinal, dermatological and respiratory (skin rash, hives, vomiting, and
gastric distress) if severe, anaphylactic
reactions
48. EXANTHEM STREPTOCOCCUS
Petechiae on the soft palate
GAS infection
Tx: penicillin G

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49. MAXILLARY SINUSITIS

Opening of the sinuses
o Ethmoidal (birth - 2 yo)
o Maxillary (birth - 4 yo)
o Sphenoidal (6 yo)
o Frontal (8 yo)
Etiology
o S. Pneunomia
o H. Influenza
o Moraxella Catarrhalis
o Rhinovirus
S/Sx
o Headache
o Tenderness to palpation
o Persistent nasal discharge (>10 d)
o Cough 2 to post-nasal drip
Tx: amoxicillin for 14-21 d
50. ECTOPIC THYROID
M/C locations
Lingual
Sublingual
Subhyoid
51. ERYTHEMA NODOSUM
Tender red nodules under the skin (age like a bruise)
Immunologic response
Ass. with:
o Infections (HCV, TB, mycoplasma,
strep, yersinia, EBV)
o AI diseases (IBD, Behcets)
o Sarcoidosis
o Medications
o Malignancy
o Vaccinations
52. LID LAG (VON GREFE)
Ocular signs of hyperthyroidism: eyelid retraction
("stare"), extra-ocular muscle weakness, and lid-lag
Lid 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

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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 lifethreatening 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
-Complications
SBP (S. Pneumonia, E. Coli)
Thromboembolism (loss of antithrombin III)
55. IMPETIGO (SEE ABOVE)
56. RHEUMATOID NODULES
Rheumatoid Arthritis
Farber Disease: deficiency of the lysosomal enzyme
ceramidase and the accumulation of ceramide in
various tissues, especially the joints

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57. RETROPHARYNGEAL ABSCESS

Potential space between the post. pharyngeal wall
and the prevertebral fascia (nml should be <1/2
width of adjacent vertebrae)
Children <5
M/C complication of pharyngitis
o GABHS
o Oral anaerobes
o S. Aureus
Sxs: sudden high fever, difficulty swallowing, head
hyperextension, toxicity
Tx:clindamycin or ampicillin sulbactam
58. EPIDURAL HEMATOMA
59. ETHMOIDITIS

60. SUBUNGUAL DESQUAMATION (KAWASAKI/SCARLET FEVER)

54
Noahs Pics
HEMANGIOMA
Endothelial proliferation of blood vessels
MC in girls
Usually disappear by 5-9 yrs
Make sure it is not in liver/larynx
Treatment Option: -blockers, interferon, steroids

ACANTHOSIS
Us. neck, axilla, groin
Signifies insulin
May go with obesity,
DKA
kussmaul,
Treatment of DKA
Hydration 0.9 saline
Insulin, K+, glucose
If pH <7.1,
Avoid brain edema

NIGRACANS
resistance
hypertension, drugs, DM
(polyuria/polydipsia, abd. pain,
dehydration)

bicarbonate
(mannitol) and hyperglycemia
ALL BONE SCAN
Presents with bone pain
Relapses in CNS, testes

AVASCULAR
Limping
Treatment:
head w/ full range of
Disrupts blood flow
Causes: trauma,

NECROSIS OF FEMORAL HEAD

conservative, surgical, construct
motion
epiphyseal growth
infection, thrombophilia

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BEHCET
Oral/genital ulceration, recurrent
Ass. w/ uveitis
HLA B5, B51
Vasculitis of small/medium size vessels
Painful, shallow oral ulcers last days to weeks
Erythema nodosum, arthritis, meningoencephalitis
D/Dx: HSV, IBD, recurrent apthous ulcers
Treatment: azathioprine, cyclosporine

BECKWIDTH-WIEDEMANN
Organomegaly, big labia, macroglossia
cell hyperplasia born large with hypoglycemia
Wilms and neuroblastoma related

CARDIOMYOPATHY
Dilated heart: from infection (mycoplasma, chagas, coxsackie), tumor drugs systolic
dysfunction
Hypertrophic diastolic dysfunction
Restrictive both
DMD pts die from cardiomyopathy
BeriBeri, hyperthyroidism, pheocromocytoma
Presentation: cough, dyspnea, pain, FTT

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OSTEOMYELITIS
Increased uptake on one side of bone scan
M>F
Staph, strep, hemophilus influenza, salmonella in Sickle cell (likes necrotic areas)
Long bones
Dx: bone scan, CT
Tx: 4-6 weeks abx

PAROTITIS
Mumps (parotitis, orchitis, meningoencephalitis)
Other viruses (HIV if chronic)
Can be bilateral and include the submandibular
Painful, swollen, no palpable angle of mandible
amylase
If recurrent, think blockage
D/Dx: dental abscess, tumor (Burkitts)

DISCITIS (MRI)
Cant bend over, back pain, fever, limp, refusal to sit
Usually staph, kingella, GAS, E. Coli
Usually in pts <5 yo
Vascular channels
INFECTIOUS MONONUCLEOSIS

57
EBV, CMV, Toxoplasma, HIV, Hepatitis
Can be just fever <5 yo
Sore throat, splenomegaly, exudate on tonsils
Petechia on palate?
Generalized lymphadenopathy = systemic
ESOPHAGEAL ATRESIA (X-RAY)
No air in GI tract
VACTERL (vertebra, anal atresia, cardiac, TE fistula, renal, limb
abnormalities)
Inability to pass NG tube
Maternal polyhydramnios

ESOPHAGEAL ATRESIA (BARIUM SWALLOW)

Aspiration recurrent pneumonia

FOREIGN BODY IN ESOPHAGUS

58

THYROGLOSSAL CYST
In midline, can be infected
Moves on swallowing
HYPOPYON
Accumulation of WBCs in eye
Ass. w/ uveitis, Behcet

JELLYFISH STING
Line forms
Tx: vinegar

KAWASAKI
Large lymph node
Small vessel vasculitis
Sterile pyuria, hydrops gallbladder
KAWASAKI
Hand edema
D/Dx: bite? Generalized?

TRICHOMANIA
Missing patches of hair
Usually prepubertal

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INSECT BITES
Center bite + erythema

UNDESCENDED TESTES
Ask about palpation
Operation by age 1 to prevent seminoma/infertility
Tx: surgery, -HCG

IDIOPATHIC STRIAE OF PUBERTY

Thin bands of atrophic skin
Rapid growth, steroid, Cushing, pregnancy
Starts in puberty, later

ANIRIDIA
Large black eyes
Can be familial, sporadic
Bilateral
Decreased vision/nystagmus
Many have glaucoma (75%)
WAGR complex

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MACROGLOSSIA
Hypothyroidism
Beckwith-Wiedemann

ECZEMATOUS INFECTED DERMATITIS (ON EAR)

Tx against Staph

MENINGOCOCCEMIA
Child w/ fever, not acting normally
Non-blanching purpura
Watch for Waterhouse-Friedrichson adrenal hemorrhage
Prognosis is better if CNS involved

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RACCOON EYES
Basilar skull fracture (hematoma surrounds eyes)
OR Abuse
OR Neuroblastoma (3rd MC cancer)
- Arise from neural crest cells
- Sometimes spontaneous regression
- Small round cells (also Ewing, NHL, rhabdomyosarcoma)
Sx: orbital protosis, blue nodules, mets to BM, lymph nodes, skin, Horners (in the
cervical/thoracic region), opsoclonus-myoclonus (dancing eyes/feet secondaray to
paraneoplastic antibodies), homovanillic acid and vanillymandelic acid in urine
MIBG radioisotope scan to detect small primaries and mets

PRADER WILLI
Chromosome 15 from paternal side is inactive (imprinting)
FTT early on
hunger, obesity and MR
Tx: GH

SCROTAL MASS

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DDx: torsion, tumor, trauma, inguinal hernia, hycrocele
Torsion: US + loss of cremasteric reflex

OSTEOGENESIS IMPERFECTA
Fractures

ERYTHEMA MULTIFORME
Red target lesions
If mucosal involvement SJS
Ass. w/ HSV, mycoplasma
PNEUMONIA W/ PLEURAL EFFUSION (X-RAY)
Dullness to percussion, breath sounds, pain, dyspnea
US or CT for fluid
Needle aspiration (pH, LDH, protein, glucose, smear and culture)
Chest tube for empyema
Pneumococcus M/C
Complication of empyema adhesion
PNEUMOMEDIASTINUM (X-RAY)
Ass. w/ asthma (alveolar rupture during acute disease)
Dental issue, acute gastroenteritis
X-ray shows air along the trachea
Transient stabbing chest pain
Dyspna, cough, subcutaneous emphysema
LONG QT
Can be associated with deafness, syncope, arrhythmia
Usually late childhood/adolescence
Normal QT: <0.45 under 6 mo, <0.44 over 6 mo
Etiology:
WPW
Ischemic heart disease (RBBB, LBBB)
Drugs
Torsades

63
Hypokalemia, hypomagnesemia, hypocalcemia
RICKETS (X-RAY)
Vit D deficiency
Cupping of radius, ulna
Leg bowing
Craniotabes
Malabsorption syndromes, liver or renal disease
Phenobarbital
Labs: Ca2+ nml or low, hypophosphatemia, alk phos
Tx: Vit D and calcium

ROSEOLA
HHV6
Fever for 3 days then rash
Febrile seizures
HAIR TOURNIQUET
ZOSTER
Previous varicella
If had varicella <1 yo, risk of zoster
TURNERS
Webbed neck, hand and foot edema
STEVEN JOHNSON SYNDROME
Red eyes
Lip involvement, skin involvement (20-30%)
URTICARIA (HAND)
BRONCHIECTASIS (X-RAY)
Congenital/acquired/foreign body
Need CT to confirm

64

SCARLET FEVER
Starts with pharyngitis
24-48 hrs later rash sandpaper rash with perioral sparing
1 week later - desquamation face to hands and feet
Sequela: TSS
Tx: penicillin

ERYTHEMA NODOSUM
Painful (paniculitis involves subdermal fat)
Raised erythematous hard, us. on shins (also buttocks/arms)
D/Dx: infectious (GAS, Yersinia, TB, histoplasma and cocciodiomycoses), IBD, sarcoidosis,
vasculitis, SLE, drugs (OCPs), urinary prophylaxis (sulfa, nitrofurantoin and tetracyclines)

NEUROFIBROMATOSIS
AD/sporadic
Caf au lait spots
Also seen in McCune Albright, Turners
Other lesions: >6 caf au lait spots (>15mm, 5mm for children), neurofibromas, lisch
nodules (iris), axillary and inguinal freckling, bony changes (scoliosis is common but not
criteria), optic gliomas, 1st degree relative
(NF2 bilateral schwannomas)
Tuberous Sclerosis
AD/sporadic
Hypopigmented lesions
Sturge Weber

65

ECTHYMA GANGRENOSUM
Embolic Lesion
Ass. w/ gram sepsis (pseudomonas, proteus, S. Aureus, Serratia, Aspergillus)
Red lesion with central necrosis
KAWASAKI
Main complication coronary aneurysm in 2nd stage of the disease (also see
thrombocytosis), and desquamation
Murmur in 1st stage carditis
Tx: aspirin high dose followed by low dose, IVIG (2 courses), corticosteroids if necessary

MEASLES
Maculopapular rash with conjunctivitis
Includes the palms moves from the head to the toe
Koplick spots
10-12 d incubation, 2-5 d. prodrome rhinorrhea, coryza
Complications: pneumonitis, TB reactivation, Guillain Barre, Hemiplegia, SSPE
Rubella - Forsheimer spots

COXSACKIE (HFM DISEASE)

Herpangina if there is grouping of the oral lesions (ulcerative lesions in the oral cavity)
Fever up to 41, vomiting
Complications
Myocarditis/pericarditis
Pleurodynia
Arthritis
Orchitis
Guillain Barre Syndrome

66

ERYTHEMA MULTIFORME
Result of HSV, hepatitis
Steven Johnson Syndrome
Ass. w/ mycoplasma, drugs (abx and anticonvulsants)
Do not tx with steroids
Can become TEN

Zoster
VZV
Secondary reactivation
May be associated with immune deficiency (T cell) or malignancies
Giant cells under the microscope
Complications
Trigeminal neuralgia
Ramsey Hunt (vesicles in the ear +facial nerve palsy)
Keratitis
Uveitis

Foreign body aspiration

Search for hyperinflation of a certain lobe or the total lung, differential wheezing
Story of choking serious paroxysm of cough
2 photos, 1 on inspirium and 1 on expirium look for air trapping
Tx: bronchoscopy rigid

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STAPH PNEUMONIA
Staph (round pneumonia) usually before 3 mo (70% before 1 year) treat with cefuroxime
under 1, penicillin G after
- Pneumatocele
Always x-ray round pneumonia more than once to r/o malignany

MYOCARDITIS
Opacity of the heart
Large heart silhouette
Infant looks gray hemodynamically instable
Increased HR
S3 gallop
ECG: sinus tach, QRS are small and ST segment changes (concave), T wave strain
Tx: vasopressors (dobutamine, milerenone because no tendency for arrhythmias), afterload
reduction (diuretics)
steroids, immunosuppressants
GYNECOMASTIA
Normal during neonatal period and puberty (40%) d/t hypersensitivity of estrogen receptors
Goes away within 2 years
Syndrome pathological Klinfelters
Prolactinoma
Drugs that cause: steroids, ketoconazole, spironolactone, digitalis, cimetidine, alcohol

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BRONCHIECTASIS (CF)
D/Dx Immune deficiency, ciliary dyskinesia (inhaled NO is normal)
D/Dx for abnormal sweat test
Adrenal insufficiency
Ectodermal dysplasia (any skin imperfection)
Malnutrition
Hypothyroid
MPS
Glycogen storage type 1
Hypoparathyroid
DI

PURPURA FULMINANS
Varicella

HSP
Fear of intussusception fear
Steroids CNS and abdominal involvement