Diseases of Infancy and Childhood

Question 1

Child with fever later develops red rash on face that spreads to body

Answer 1

“Slapped cheeks”
erythema infectiosum/fifth disease: parvovirus B19
FA 624, 176

Question 2

What type of anemia is caused by parvovirus B19?

What is seen on histo?

Answer 2

Aplastic anemia: destruction of myeloid stem cells
R10-9: large homogenous intranuclear inclusions and surrounding peripheral rim of residual chromatin
FA 393.2A: hypocellular bone marrow with fatty infiltration
FA 393

Question 3

Four allele deletion of alpha hemoglobin

Answer 3

Incompatible with life; causes hydrops fetalis
alpha-thalassemia
FA 390

Question 4

Child with eczema, fair skin, intellectual disability, musty body odor. Diet?

Answer 4

Tyrosine essential. Avoid artificial sweeteners containing aspartame (phenylalanine). lack phenylalanine hydroxylase.
PKU, FA 107

Question 5

Failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability. What enzyme?
predisposition to what infection?

Answer 5

Lack galactose-1-phosphate uridyltransferase
classic galactosemia
e. coli sepsis in neonates
FA 103

Question 6

Cl concentration >60 mEq/L in sweat, increased immunoreactive trypsinogen in new born screening.
Gene defect
Symptoms
Pulmonary infection and pathophysiology

Answer 6

CFTR gene on chromosome 7, Phe508
malabsorption with steatorrhea, nasal polyps, meconium ileus in newborns, infertility in males (lack of vas deferens)
Chronic bronchitis and bronchiectasis, recurrent psuedomonas infection, causing dilation of bronchioles
FA 84

Question 7

Adult male presents with infertility. He also has pancreatic insufficiency and fat soluble vitamin deficiencies.
Dz?
CXR findings?

Answer 7

Cystic fibrosis
Missing vitamins A, D, E, K
Lacks vas deferens
CXR Findings: reticulonodular pattern 
FA 84

Question 8

PDA, cataracts, deafness, +/- blueberry muffin rash of neonate

Answer 8

congenital rubella infection

FA 175, R 445, RRP 151

Question 9

Pregnant mother experiences spontaneous abortion. Autopsy shows multiple microabscesses in fetal liver, spleen, placenta, brain.
Foot contamination suspected. What pathogen?

Answer 9

Listeria monocytogenes

FA 132

Question 10

Neonate with thrombocytopenia, periventricular microcalcifications, hepatomegaly with jaundice.
What transplacental infection? Best way to culture and histo findings?

Answer 10

CMV; culture urine; will find large cells with eosinophilic intranuclear inclusions
RRP 151, FA 175

Question 11

Wilms tumor with aniridia (PAX6 deletion

Answer 11

WAGR syndrome (wilms, aniridia, genital anomalies, mental retardation)

Question 12

Wilms tumor with gonadoblastoma

Answer 12

Denys-Drash syndrome

Question 13

imprinting abnormality of paternal chromosome IGF-2

Answer 13

Beckwith-Wiedemann syndrome

wilms tumor WT-2