Disorders of Childhood I and II (lecture)

Question 1

What sequelae are associated with congenital rubella?

Answer 1

Caataracts, heart defects, hearing loss

Question 2

What is associated with congenital thalidomide exposure?

Answer 2

Limb malformation

Question 3

What sequelae are associated with fetal alcohol syndrome?

Answer 3

Facial dysmorphism, growth retardation, CNS (behavioral)

Question 4

What sequelae are associated with diabetic moms?

Answer 4

Caudal regression, Nural tube defects, CVD, macrosomia

Question 5

What is the underlying cause of respiratory distress syndrome?

Answer 5

Surfactant deficiency

Question 6

What two side effects are associated with O2 given to RDS?

Answer 6

Retinopathy and Bronchopulmonary dysplasia

Question 7

What is germinal matrix hemorrhage?

Answer 7

BlVentricular blleding a/w prematurity

Question 8

What is associated with enteral feeding?

Answer 8

Necrotizing enterocolitis

Question 9

What does the acronym TORCH stand for?

Answer 9

Toxoplasmosis
Other (syphilis, HIV, VZV, parvovirus B19, enterovirus)
Rubella
CMV
HSV

Question 10

What are the two classifications of fetal hydrops?

Answer 10

Immune and non immune

Question 11

What is the most common cause of immune hydrops?

Answer 11

Blood group incompatibility between mom and fetus - mom Rh - and baby Rh +, or ABO incompatibility (uncommon)

Question 12

What is required for immune hydrops to happen?

Answer 12

Mom must have antibodies against the baby’s blood type, so it is uncommon in first pregnancy

Question 13

What is the pathophysiology of fetal hepatosplenomegaly in immune hydrops?

Answer 13

Hemolysis of fetal RBCs leads to extra medullary hematopoiesis

Question 14

Baby is still birth with prominent fluid retention around the neck. Histology reveals intranuclear inclusions and a left shift of RBCs. What is the most likely causal organism?

Answer 14

Parvovirus B19

Question 15

What is the pathophysiology of cystic fibrosis?

Answer 15

Mutation in the CFTR results in a disfunction of Cl- transport across membranes. This results in a loss of Na+ transport also. Where Na goes (or doesn’t go), water follows. In CF this results in a mucous dehydration and plugs.

Question 16

What male repro abnormality is associated with cystic fibrosis?

Answer 16

Congenital absence of vas deferens

Question 17

What is the most common cause of death in cystic fibrosis patients?

Answer 17

Cardiorespiratory

Question 18

What is the age cap of SIDS?

Answer 18

1 year

Question 19

What two behavioral modifications reduce the likelihood of SIDS?

Answer 19

Stop maternal smoking and back to sleep

Question 20

4 month old who dies in the middle of the night. Mother is smoker. Baby sleeps in the prone position. Intrathoracic petechiae are found on autopsy. What is the likely Dx?

Answer 20

SIDS

Question 21

Baby born with a low APGAR. Placenta shows green staining, which is also found in the baby’s nail beds. Placenta histo shows macrophages that are also stained green. Dx?

Answer 21

Meconium aspiration

Question 22

2 week old baby who has yet to have a bowel movement. X-ray shows a bowel that is proximally distended and distally small in diameter. What is the most likely diagnosis, the gene and syndrome with which it associated, cause, and treatment?

Answer 22

Hirschsprung is associated with Down and RET mutations and is caused by a lack of ganglion cells to the bowel, surgical removal of the affected bowel.

Question 23

What is the pneumonic for DiGeorge syndrome?

Answer 23

CATHCH-22
Cardiac abnormalities
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
22q11 del

Question 24

What is the most common congenital cause of cyanotic heart disease?

Answer 24

Tetralogy of Fallot

Question 25

Baby is found to have a polycystic kidney and hepatic fibrosis. What is the probable Dx and gene related to this?

Answer 25

Autosomal recessive PKD - PKDH1 gene

Question 26

What is the rule of 2s for meckel’s diverticulum?

Answer 26

2% of population
within 2 feet of the ileocecal valve
2 inches long
2 x M:F ratio
symptoms by 2 y.o.

Question 27

What is the most common cause of intestinal obstruction in kids

Answer 27

Intussusception

Question 28

4 week old male with non bilious vomit and a small palpable mass in the epigastric region. Dx?

Answer 28

Pyloric stenosis

Question 29

Newborn who vomits after every feeding. An attempt to pass an NG tube fails. What is the most common form of this condition?

Answer 29

Tracheoesophageal fistula - the most common form is a blind upper esophagus and fistula between the lower esophagus and trachea.
May also present with choking and aspiration of food if fistula between complete esophagus and trachea exists.

Question 30

10 y.o. with a major rash, heart murmur, CNS issues and a hypo echoic mass on the kidney. Dx?

Answer 30

Tuberous sclerosis

Question 31

What is the most common location of a brain tumor in a kid?

Answer 31

Supratentorial

Question 32

What is the most common form of brain tumor in kids?

Answer 32

Astrocytoma

Question 33

3 y.o. with increased HVA and VMA in urine. Imaging shows adrenal medulla is enlarged. What is the Dx and gene related to it?

Answer 33

Neuroblastoma, N-myc amplification

Question 34

What classifies a IVS stage of neuroblastoma?

Answer 34

Congenital neuroblastoma with mets confined to liver, skin, and/or bone marrow. NO N-myc amplification

Question 35

What are the components of WAGR syndrome?

Answer 35

Wilms tumor
Aniridia
GU abnormalities
Retardation (mental)

Question 36

Kid with Gigantism, Macroglossia, Visceromegaly, Omphalocele, and Umbilical hernia. Name the syndrome…

Answer 36

Beckwith-Wekdemann

Question 37

15 y.o. with pain and a mass of the distal femur. X-ray shows sclerosing of the bone, periosteal bone formation, cortical bone destruction, and soft tissue extension. Dx and prognosis…

Answer 37

Osteosarcoma - 80% five year survival