Flashcards in Pediatric Neurology Deck (26):
What are some risk factors for the development of cerebral palsy?
hypoxic ischemic insult to the brain perinatally
low birth weight
prenatal viral infections
What are the three general categories of CP?
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)
Can CP be a progressive disease?
nope - it's static by definition
What is the moro reflex?
elicited by head extension
two phases: 1. extension and abduction of arms and leg extension 2. followed by slower abduction of arms
What is the tonic neck reflex?
when the baby turns her head, the arm and leg on the side of the turn will extend, while the other side flexes
What is a traction response?
you lift the baby up by traction in both hands. Head lag after 6 months is pathologic and indicates hypotonia
What is the parachute reflex?
you plunge the suspended infant downward. The arms should thrust forward symmetrically as it breaking the fall
What is the most common inherited form of mental retardation?
What is the genetic defect in fragile X?
x chromosome mutation in the 5' end of the gene with amplification of a CGG repeat
What is the genetic defect in Prader-Willi?
absence e of the segment 11 to 13 on the long arm of the PATERNALLY derived chromosome 15
How does Prader-Willi present?
MR, decreased muscle tone, short statue, emotional lability, insatiable appetite and obesity
What is the genetic defect in Angelman's syndrome?
deletion of segment 11 to 13 on the MATERNALLY derived chromosome 15
How does Angelman's present?
MR, abnormal gait, speech impairment, seizures, inappropriate happy behavior that includes laughing, smiling and excitability ("happy puppet" syndrome)
What is the genetic disorder in Rett's syndrome?
causal gene is the MeCP2 on the long arm of chromosome X.
How does Rett's syndrome present?
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
What's the metabolic defect in Tay-Sachs disease?
What's the metabolic defect in Niemann-Pick disease?
What's the metabolic defect in Gaucher disease?
What do Tay-Sachs, Niemann-Pick, Metachromatic leukodystrophy, and Gaucher have in common?
all have a cherry-red spot
If a path specimen comes back with globoid cells with periodic-acid Schiff (PAS)-positive granules, what's the neurodenegerative disorder?
What's the metabolic defect in Krabbe disease?
A child has cloudy corneas, characteristic facies and dwarfism. The metabolic defect is a-L-iduronidase. What's the diagnosis?
If someone has the Hurler's phenotype except for the corneal clouding, what's the diagnosis?
What's the metabolic defect in Hunter's?
What is the metabolic defect in metachromatic leukodystrophy?