Pediatrics

Question 1

3 year-old, hypotonic as an infant, mental retardation and obesity, eats everything she can:

Answer 1

Prader-Willi syndrome

Question 2

2 year-old girl with sever mental retardation is nonetheless deemed the happiest child in her daycare:

Answer 2

Angelman syndrome: haracterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. It is caused by the loss of the normal maternal contribution to a region of chromosome 15. Similar deletions from the paternal contribution result in Prader- Willi syndrome.

Question 3

Which disease is caused by a trinucleotide repeat

Answer 3

Fragile X syndrome: the most commonly known single-gene cause of autism and the most common inherited cause of intellectual disability.

Question 4

What is Von Hippau-Lindau syndrome?

Answer 4

An AD inherited illness manifest by multiple hemangioblastomas of the eye and brain. Neuro symptoms are minimal unless there is a rupture of a CNS hemangioblastoma. Can see retinal angiomas, also in kidneys and pancreas.

Question 5

Clinical characteristics of tuberous sclerosis complex (TSC):

Answer 5

variable combination of mental retardation, seizures, and adenoma sebaceum (angiofibromas on the face as red papules).

Question 6

TSC is caused by which two genes?

Answer 6

TSC1 on chromosome 9 encodes protein hamartin, while TSC2 on chromosome 16 encodes tuberin.

Question 7

Tuberous sclerosis is characterized by four features on MRI:

Answer 7

Cortical tubers, subependymal nodules, ventriculomegaly, subependymal giant cell astrocytomas (SEGAs).

Question 8

NF2

Answer 8

mutation on chromosome 22, multiple schwannomas, meningiomas, ependymomas, presents by the age of 20, usually with cranial nerve deficits from the tumors

Question 9

NF1

Answer 9

mutation on chromosome 17, much more common than NF2, presents before age 5 with seizures, MR, and painful neuropathies from peripheral neurofibromas. Also with café-au-laits spots, axillary freckling, optic gliomas, thinning of long bones.

Question 10

What is sturge-weber syndrome?

Answer 10

a congenital disorder characterized by seizures and a port-wine stain birthmark, caused by an overgrowth of capillaries. It is usually in the distribution of the first division of the trigeminal nerve. There is neuronal loss and calcification in cerebral cortex ipsilateral to the birthmark. Seizures start in infancy, and most children have mental retardation. Glaucoma is also common.

Question 11

Tram-track pattern on imaging:

Answer 11

Calcifications in sturge-weber syndrome

Question 12

What is acute disseminated encephalomyelitis?

Answer 12

an acute inflammatory disease that often follows an infection or vaccine. It presents with encephalopathy and seizures.

Question 13

Rett syndrome

Answer 13

Girls only, hypotonia in infancy, age of onset is 1-4 with cognitive deficits, lose purposeful use of their hands and ability to speak, followed by compulsive hand movements such as wringing and washing.

Question 14

Lesch-Nyhan disease:

Answer 14

X-linked disorder caused by a mutation of the hypoxanthine-guanine phosphoribosyl transferase enzyme. Affected children develop hypotonia and mental retardation. The most striking feature is significant self-mutilation.

Question 15

Lesch-Nyhand can be diagnosed how?

Answer 15

Serum uric acid. Prone to gout and kidney stones.

Question 16

Erb’s palsy results from damage where?

Answer 16

To the upper brachial plexus, C5-C6.

Question 17

Klumpke’s paralysis results from damage to where?

Answer 17

The lower portion of the brachial plexus, C8-T1. Occurs with arm pulling, gives total-hand claw.