Disease Of Infancy & Childhood

Question 1

What is the most common extracranial solid tumor of childhood and is also the most frequently diagnosed tumor in infancy?

Answer 1

Neuroblastoma

Question 2

What is the most common cause of respiratory distress in newborns?

Answer 2

Respiratory Distress Syndrome/ Hyaline Membrane Disease

Question 3

What is the most common extra-cranial solid tumor of childhood and is also the most frequently diagnosed tumor of infancy?

Answer 3

Neuroblastoma

Question 4

What is the most common cause of respiratory distress in newborns?

Answer 4

Respiratory Distress Syndrome / Hyaline Membrane Disease

Question 5

What is the defective gene in cystic fibrosis? Which chromosome is this gene located?

Answer 5

CFTR gene ; Chromosome 7

Question 6

These are tumor cells around a central space containing neutrophil?

Answer 6

Homer-Wright Pseudorosettes

Question 7

What are the three components of Wilms tumor?

Answer 7

1. Blastema ( small round blue cells)
2. Stroma ( fibroblasts)
3. Epithelium

Question 8

Which syndrome is associated with organomegaly , macroglossia, hemihypertrophy, and omphaloceles? What is the genetic defect of this syndrome?

Answer 8

Beckwith-Weidemann Syndrome ; WT 2 imprinting

Question 9

6/M with enlarging abdominal mass that crosses the midline and generalized, dusky macules resembling the surface of a blueberry muffin. The patient eventually expired. Autopsy shows a mass in the adrenal gland. Sections shows sheets of small, round, blue cells, with occasional formation of Homer-Wright rosettes. What is the diagnosis?

Answer 9

Neuroblastoma

Question 10

5/F with hematuria and a large abdominal mass, mainly located on the right but appears to cross the midline. Biopsy of the mass shows a mixture of glandular structures, sheets of spindle cells, and small round, blue cells. What is the diagnosis?

Answer 10

Wilms tumor

Question 11

The malignant tumor arises in the lining of the eye sometimes occurring bilaterally with extension along the optic nerve. Usually affects infants and small children.

Answer 11

Retinoblastoma

Question 12

Newborn baby noticed to have no bowel movements despite good appetite. What’s your impression?

Answer 12

Imperforate anus

Question 13

Pathology of imperforate anus?

Answer 13

Failure of cloacal diaphragm to involute.

Question 14

Initial management of newborns with imperforate anus?

Answer 14

Hydration , Avoidance of Sepsis.

Question 15

Newborn failed to pass meconium at immediate postnatal period presenting with abdominal distention and bilious vomiting.

Answer 15

Hirschsprung’s disease

Question 16

Pathogenesis of Hirschsprung’s Disease?

Answer 16

Normal migration of neural crest from cecum to rectum is arrested.

Question 17

Complications of Hirschsprung’s disease if left untreated? (4)

Answer 17

Fluid and electrolyte imbalance
Perforation
Peritonitis
Development of enterocolitis

Question 18

Newborn baby who kept vomiting all the food he ate , showing thin noncanalized cord replacing a segment of the esophagus on radiotherapy.

Answer 18

Esophageal atresia

Question 19

Esophageal atresia occurring near the tracheal tube bifurcation is associated with this condition?

Answer 19

Fistula

Question 20

Complications of esophageal atresia? (3)

Answer 20

Pneumonia
Aspiration
Suffocation

Question 21

Female infant who often wet the top of diaper showing connection from the bladder to the umbilicus in imaging study?

Answer 21

Persistent urachus

Question 22

Which of the following disorders associated with enzyme defects is caused by a deficiency of sphingomyelinase?

Answer 22

Niemann-Pick Disease

Question 23

Clinical findings of infant with seizures, muscle weakness, hypotonia, feeding problems, psychomotor development arrest, extra-ocular palsies and lactic acidemia.

Answer 23

Leigh syndrome

Question 24

Main pathology of Leigh syndrome?

Answer 24

Mutations in mitochondrial DNA that interfere with baby’s energy generation.