Pediatrics

Question 1

Manifestations of CP

Answer 1

hemiparetic, diparetic, quadriplegic

flaccid weakness, asymmetric movements, seizures, rigidity

STATIC - no worsening over time

Question 2

Moro Reflex

Answer 2

“startle”

look for asymmetry

disappears at 3 months

Question 3

Tonic Neck Reflex

Answer 3

“fencing”

Abnormal if baby cannot move out of this posture

Disappears at 5 months

Question 4

Fragile X

Answer 4

Boys > girls

X-chromosome

long face, large ears, macro-orchidism, mental retardation

Question 5

Prader-Willi

Answer 5

problem w/ paternal gene

MR, dec muscle tone, short stature, emotional lability, insatiable appetite (OBESE)

Question 6

Angelman’s Syndrome

Answer 6

problem w/ maternal gene

MR, abnormal gait, speech prob, seizures, inappropriate laughing, smiling (“happy puppet syndrome”)

Question 7

Rett’s

Answer 7

Chromosome 28 - only in girls

Normal until 6-18 mo - hypotonia, wringing hands, autistic-like, lag in brain and head growth (microcephaly), seizures

Question 8

Tay-Sachs

Answer 8

Cherry red spots

Ash Jews

Hexoaminidase

Question 9

Niemann-Pick

Answer 9

Cherry red spots

Ash Jews

Sphingomyelinase (pick your nose with your sphinger)

Question 10

Gaucher

Answer 10

Cherry red spots

Gaucher cells in BM

Glucocerebroside

Question 11

Krabbe

Answer 11

Globoid cells w/ PAS pos granules

Question 12

Hurler’s

Answer 12

Clouding of cornea, dwarfism

Chromosome 4

Question 13

Hunter;s

Answer 13

Like Hurler w/o corneal clouding

X-linked

Question 14

Metachromatic Leukodystrophy

Answer 14

Cherry red spots

Demyelination

Can present as adults w/ schizophrenia

Pos urine sulfatides

Question 15

Adrenoleukodystrophy

Answer 15

White matter hyper intensities on MRI

Neuropathy or myelopathy

Question 16

NF-1

Answer 16

optic nerve gliomas

cafe-au-lait spots

neurofibromas

Axillary/inguinal freckles

Lisch nodules in iris

Question 17

NF-2

Answer 17

bilat acoustic neuromas

cafe-au-lait less common

Question 18

Tuberous Sclerosis

Answer 18

Seizures, mental retardation

Cortical tubers, subependymal nodules, astrocytomas

Ashleaf spots, shagreen patches

Angiomyolipomas of heart, kidneys

Question 19

Ataxia Teleangiectasia

Answer 19

Truncal ataxia

Progressive dementia

Teleangiectasias

Immunodeficiency, inc risk leukemia and lymphoma

Question 20

VHL

Answer 20

cerebellar hemangioblastomas, ataxia

Cafe-au-lait spots

Pheochromocytoma, renal hemangiomas or cancers

Question 21

Sturge Weber

Answer 21

Port wine stain in ophtho nerve distribution

Venous angiomas of pia mater, seizures, hemiparesis, mental retardation

Question 22

Lennox-Gastaut Syndrome

Answer 22

tonic, tonic-clonic, absence or atonic seizures

intellectual disability

Question 23

Benign Rolandic Epilepsy

Answer 23

Simple partial sz of mouth and face OR tonic clonic

NOCTURNAL

EEG - centro-temporal spikes

Question 24

Absence Sz

Answer 24

May be triggered by hyperventilation

EEG - 3 per sec spike and wave

ETHOSUXIMIDE

Question 25

Juvenile Myoclonic Epilepsy

Answer 25

Myoclonic, absence, tonic-clonic Teenage yrs EEG - 4 to 6 per sec polyspike waves Early mornings