Pediatric Neurology

Question 1

What are some risk factors for the development of cerebral palsy?

Answer 1

hypoxic ischemic insult to the brain perinatally
prematurity
low birth weight
chorioamnionitis
prenatal viral infections
prenatal strokes

Question 2

What are the three general categories of CP?

Answer 2

hemiparetic (weak, spasticity on one side of body)
diparetic (spasticity of all 4 limbs, but legs worse than arms)
spastic quadriplegic (all 4 limbs affected with seizures often occurring within the first two days of life)

Question 3

Can CP be a progressive disease?

Answer 3

nope - it’s static by definition

Question 4

What is the moro reflex?

Answer 4

elicited by head extension

two phases: 1. extension and abduction of arms and leg extension 2. followed by slower abduction of arms

Question 5

What is the tonic neck reflex?

Answer 5

when the baby turns her head, the arm and leg on the side of the turn will extend, while the other side flexes

Question 6

What is a traction response?

Answer 6

you lift the baby up by traction in both hands. Head lag after 6 months is pathologic and indicates hypotonia

Question 7

What is the parachute reflex?

Answer 7

you plunge the suspended infant downward. The arms should thrust forward symmetrically as it breaking the fall

Question 8

What is the most common inherited form of mental retardation?

Answer 8

Down syndrome

Question 9

What is the genetic defect in fragile X?

Answer 9

x chromosome mutation in the 5’ end of the gene with amplification of a CGG repeat

Question 10

What is the genetic defect in Prader-Willi?

Answer 10

absence e of the segment 11 to 13 on the long arm of the PATERNALLY derived chromosome 15

Question 11

How does Prader-Willi present?

Answer 11

MR, decreased muscle tone, short statue, emotional lability, insatiable appetite and obesity

Question 12

What is the genetic defect in Angelman’s syndrome?

Answer 12

deletion of segment 11 to 13 on the MATERNALLY derived chromosome 15

Question 13

How does Angelman’s present?

Answer 13

MR, abnormal gait, speech impairment, seizures, inappropriate happy behavior that includes laughing, smiling and excitability (“happy puppet” syndrome)

Question 14

What is the genetic disorder in Rett’s syndrome?

Answer 14

causal gene is the MeCP2 on the long arm of chromosome X.

Question 15

How does Rett’s syndrome present?

Answer 15

normal development until 6-18 months. Then hypotonia, autistic-like behavior with stereotyped hand movement, lag in brain and head growth, gait abnormalities and seizures

Question 16

What’s the metabolic defect in Tay-Sachs disease?

Answer 16

hexosaminidase A

Question 17

What’s the metabolic defect in Niemann-Pick disease?

Answer 17

sphingomyelinase

Question 18

What’s the metabolic defect in Gaucher disease?

Answer 18

glucocerebrosidase

Question 19

What do Tay-Sachs, Niemann-Pick, Metachromatic leukodystrophy, and Gaucher have in common?

Answer 19

all have a cherry-red spot

Question 20

If a path specimen comes back with globoid cells with periodic-acid Schiff (PAS)-positive granules, what’s the neurodenegerative disorder?

Answer 20

Krabbe disease

Question 21

What’s the metabolic defect in Krabbe disease?

Answer 21

Galactosylceramide P-galactosidase

Question 22

A child has cloudy corneas, characteristic facies and dwarfism. The metabolic defect is a-L-iduronidase. What’s the diagnosis?

Answer 22

Hurler’s syndrome

Question 23

If someone has the Hurler’s phenotype except for the corneal clouding, what’s the diagnosis?

Answer 23

Hunter’s syndrome

Question 24

What’s the metabolic defect in Hunter’s?

Answer 24

Iduronate sulfatase

Question 25

What is the metabolic defect in metachromatic leukodystrophy?

Answer 25

arylsulfatase A

Question 26

Ok, I can’t do any more flash cards of the neurodegenerative disorders. There’s too many. #sorry

Answer 26

no I’m not