Clinical case 1

1. The mother of a newborn girl complains to the pediatrician that the infant is
coughing, drooling excessively, and vomiting immediately after every feeding.
The infant was treated for gestational polyhydramnios. X-ray of the chest reveals
the nasogastric tube is unable to reach the stomach, which is full of air.

1. What is the most likely diagnosis? Tracheo-Esophageal Fistula.

2. How did the patients polyhydramnios
3. The lungs buds are derived from which embryonic structure? Mesoderm
4. Which pathogens are most likely to cause pneumonia in this patient? Pathogens
from esophagus into lungs.
5. What other congenital condition is associated with polyhydramios and bilious
vomiting?

Clinical case 2
2. The parents of a term, 1-year-old girl are concerned because the childs head
seems abnormally large. Their pediatrician notes the childs head circumference
has accelerated beyond her established growth curve over the past month. An
axial CT of her head demonstrates dilated atria of the lateral ventricles and a
rounded third ventricle.
1. What is the most likely diagnosis? Hydrocephalus
2. Where is CSF produced?

3. How is CSF reabsorbed?

4. What forms the blood-brain barrier?
5. What is the pathophysiology of this condition?

Clinical case 3
3. What is the diagnosis? What is the etiology?

Clinical case 4
4. A male infant was born with a large lumbar meningomyelicele that was covered
with a thin membranous sac. Within a few days the sac ulcerated and began to
leak. A marked neurological deficit was detected inferior to the level of the sac.
1. What is the embryological basis of this anomaly? Failure of caudal portion
closure of the neural tube causing a vertebral defect in which spinal cord and
meninges protrude producing a sac of CSF.
2.
3. What is the basis of the neurological deficit? This leakage could indicate a
decrease in CSF, which could cause neurological deficit.
4. What structures would likely be affected? Lower limbs, pelvic area.

Clinical case 5
5. If a child has these symptoms:
a. Prenatal and/or postnatal growth delay (height and/or weight
below the tenth percentile,
b. Central nervous system (brain) involvement (conditions such as
head circumference below the third percentile, intellectual
impairment, learning disabilities, attention deficit/hyperactivity or
other neurological abnormalities),
c. Characteristic facial features (short eye slits, flat mid face,
long/indistinct space between nose and upper lip, and thin upper
lip.

What is the diagnosis?