Genetics/Reproductive Flashcards
What is the inheritance, and main features of adrenoleukodystrophy?
adrenal insufficiency-hypotension, hyperkalemia, hyponatremia, hypoglycemia X-linked recessive hyperpigmentation (too much ACTH) N/V Fatigue Behavioral problems difficulty walking, spasticity difficulty speaking
What’s the deal with metachromatic leukodystrophy?
Aryl had many colorful bros and sis that made her blind, clumsy, and dumb. deficiency of arylsulfatase accumulates of cerebroside sulfate blind: nystagmus, optic arophy clumsy: ataxia, gait disturbance dumb: intellectual dysfunction
What are the features, deficiency of Niemann Pick?
deficiency of sphingomyelinase
get a lot of sphingomyelin, foamy histiocytes
cherry-red macula
HSM
start to lag in milestones, may get seizures
What are the important features of Tay-Sach’s?
deficiency of hexosaminidase A GM2 accumulation lysosomes have onion skin can get floppy baby seizures hypotonia cherry red macula NO HSM
kid with cherry red macula, seizures.
could be tay sachs
could be Niemann Pick
What’s the deficiency and features of Hurler syndrome?
alpha-L-iduronase deficiency heparan sulfate, dermatan sulfate accumulation developmental delay gargoylism corneal clouding HSM
What’s the deal with Hunter syndrome?
iduronate sulfatase deficiency
heparan sulfate, dermatan sulfate deficiency
X-linked recessive
mild Hurler with aggression and w/o corneal clouding
Hunters are aggressive and can see well enough to hit the X.
What are some possibly causes of floppy baby?
Down’s
Tay Sachs
Werdnig Hoffman
Infant Botulism
What’s the deal with Werdnig Hoffman?
degeneration of anterior horns of spinal cord floppy baby tongue fasciculations frog leg position most die before age 7, no treatment.
What’s the deal with Charcot Marie tooth dx?
scoliosis motor and sensory deficits-clumsy foot deformities: high (pes cavus) or flat (pes planus) arches claw hand stork like tx: stabilize ankles with ankle fusion
What are some possible causes of large fontanels?
hypothyroidism down syndrome skeletal disorders (OI) malnutrition increased intracranial pressure
What are some possible causes of small fontanels?
microcephaly
craniosynostosis
hyperthyroidism
a normal variant
What are the features of congenital adrenal hyperplasia?
HTN
ambiguous genitalia, possible virilzation
decreased feedings and vomiting-dehydration, shock
lethargy, somnolence
Which deficiency causes hypotension and ambiguous genitalia in girls? Exact hormonal abnormalities?
21 hydroxylase decreased cortisol and aldosterone (salt wasting, hypotension) increased testosterone increased 17-hydroxyprogesterone No 1, 1
Which deficiency causes HTN and ambiguous genitalia in girls? Exact hormonal abnormalities?
11 beta hydroxylase
decreased cortisol and aldosterone (fluid and salt retention, HTN)
increased testosterone
increased 11-deoxycorticosterone (weak mineralcorticoid that causes HTN)
1, 1
