Pediatrics

Question 1

Most common cardiac defect in Down Syndrome…

Answer 1

AV canal

Question 2

Individuals with Down Syndrome are at increased risk for which type of cancer?

Answer 2

ALL

Question 3

Which genetic disease is associated with rocker bottom feet, micrognathia, clenched hands, CHD, and sometimes horseshoe kidneys?

Answer 3

Edwards Syndrome (T18)

Question 4

Which genetic disease is associated with microphthalmia, microcephaly, cleft palate, holoprosencephaly, polydactyly, CHD, and omphalocele?

Answer 4

Patau Syndrome (T13)

Question 5

Genetics of a very tall male with testicular atrophy, gynecomastia, and female hair distribution?

Answer 5

47 XXY

Question 6

Genetics of a short female with a webbed neck and coarctation of the aorta.

Answer 6

45 XO

Question 7

What amino acid becomes essential in individuals with PKU?

Answer 7

Tyrosine

Question 8

How do kids with PKU present?

Answer 8

Infancy/early childhood
Intellectual disability
Fair hair/skin, blue eyes, eczema, musty urine odor

Question 9

How do individuals with Fragile X Syndrome present?

Answer 9

Intellectual Disability

Large jaw, large testes, autistic behaviors

Question 10

A 4 year old is brought in by his parents due to episodes of worsening pain in his hands and feet. On exam you note multiple angiokeratomas on his skin. Optical exam reveals corneal and lenticular opacities. What disease do you suspect?

Answer 10

Fabry Disease

Question 11

Which of is the following is not a feature of Fabry Disease?

GI problems, hepatomegaly, angiokeratomas, renal disease, cardiomyopathy

Answer 11

Hepatomegaly

Question 12

You have diagnosed a patient with a deficiency of alpha-galactosidase A, what is the substance that will accumulate in their organ(s) to cause the features of their disease?
Which organ(s) will be affected?

Answer 12

Ceramide trihexoside

Brain, kidneys, heart

Question 13

You have diagnosed a patient with a deficiency of galactosylceramide and galactoside, what is the substance that will accumulate in their organ(s) to cause the features of their disease?
Which organ(s) will be affected?

Answer 13

Galactocerebroside

Brain

Question 14

A 2 year old patient recently died. She had been developing normally until 2.5 months of age, when she started to develop irritability and increased muscle tone that progressed to spasticity, loss of motor control, blindness, and seizures. What disease did she likely have?

Answer 14

Krabbe Disease

Question 15

You have diagnosed a patient with a deficiency of glucocerebrosidase (acid beta-glycosidase), what is the substance that will accumulate in their organ(s) to cause the features of their disease?
Which organ(s) will be affected?

Answer 15

Glucocerebroside

Brain, liver, spleen, bone marrow

Question 16

Your 19 year old patient undergoes BM biopsy as part of a work up for splenomegaly and easy bruising. This reveals macrophages with crumpled tissue paper appearance of their cytoplasm. What disease does he likely have?

Answer 16

Gaucher disease

Question 17

An infant noted to have increased tone at birth has been followed for FTT and then develops seizures and stridor. On exam you appreciate hepatosplenomegaly. What disease do you consider?

Answer 17

Gaucher disease

Question 18

You are seeing a 6 month old for a well child check and parents note that since their 4 month well visit, their baby has been more irritable and feeding has been more difficult. She has dropped from the 50th percentile to the 20th for weight. On exam you note she is somewhat hypotonic, there is hepatosplenomegaly, and ophthalmic exam reveals a red macula. What disease do you expect?

Answer 18

Niemann Pick disease

Sphingomyelinase deficiency

Question 19

At a 6 month well check, parents mention that their baby boy seems to startle very easily lately. At follow up two months later this seems to be worse and they’ve also noticed that he makes less eye contact and had some “weird movements of his eyes.” On exam you note some spasticity and on ophthalmic exam you see a cherry red macula. What disease do you suspect?

Answer 19

Tay-Sachs Disease

Question 20

At a 6 month well check, parents mention that their baby boy seems to startle very easily lately. At follow up two months later this seems to be worse and they’ve also noticed that he makes less eye contact and had some “weird movements of his eyes.” On exam you note some spasticity and on ophthalmic exam you see a cherry red macula. What enzyme is this infant deficient in?

Answer 20

Hexosaminidase

Question 21

You have diagnosed a patient with a deficiency of arylsulfatase A, what is the substance that will accumulate in their organ(s) to cause the features of their disease?
Which organ(s) will be affected?

Answer 21

Sulfatide

Brain, kidney, liver, peripheral nerves

Question 22

A little girl with ID and gargoyle facies is seen for a well child check. She has corneal clouding. What disease does she likely have?

Answer 22

Hurler Syndrome

Question 23

A little girl with ID and gargoyle facies is seen for a well child check. She has corneal clouding. What enzyme is she deficient in?

Answer 23

Alpha-L-iduronidase

Question 24

A little boy with mild ID and gargoyle facies presents to clinic for a well check. Exam is otherwise benign, including ophthalmic exam. What disease does he likely have?

Answer 24

Hunter Syndrome

Question 25

A little boy with mild ID and gargoyle facies presents to clinic for a well check. Exam is otherwise benign, including ophthalmic exam. What enzyme is he deficient in?

Answer 25

Iduronate sulfatase

Question 26

What laboratory abnormality would you expect to find in an infant presenting with pyloric stenosis?

Answer 26

Hypochloremic hypokalemic metabolic acidosis

Question 27

Painless hematochezia in a two year old should make you think…

Answer 27

Meckel diverticulum

Question 28

Painless hematochezia in a two year old should make you order what diagnostic test?

Answer 28

Technetium-99m pertechnate scan