Medicine chapter 123 Flashcards
developmental defects associated with failure of the anterior and posterior neuropore to close during the 24th to 26th days of gestation
neural tube defects
what is displacement of the hindbrain tonsils more than 5 mm below the foramen magnum
chiari malformation
what results from an anomalous hilum terminal that causes either lack of normal ascent of the conus medullar is to the L1 vertebral level or an ischemic or metabolic disturbance of the caudal spinal cord
tethered spinal cord
what are some associated spinal anomalies with tethered spinal cord
diastematomyelia, spinal lipomas, dermal sinuses, and fibrolipomas
what is cystic cavitation of the central portion of the spinal cord
syringomyelia
what is the dilation of the central canal
hydromelia
what is the classic presentation of syringomyelia and hydromyelia
sensory loss in the neck, arms or legs
what are some disorders of ventral induction
holoprosencephaly, agenesis of corpus callous, and septa-optic dysplasia
what are some migration abnormalities that occur during the 2-4th month
lissencephaly, schizencephaly, polygyria, and pachygyria
what are some symptoms of migration abnormalities
cognitive delay, spasticity, seizures
what are some clinical manifestations of holoprosencephaly
dysmorphic features, mental retardation, pituitary dysfunction
what are some clinical manifestations of lissencephaly
mental retardation, epilepsy, motor disability
what is the major clinical manifestation of band heterotopia
epilepsy
what is the major clinical manifestation of polymicrogyria
epilepsy and cognitive delay
what are the major clinical manifestations of schizencephaly
mental retardation, spasticity, epilepsy
what are the classic features of RETT syndrome
loss of hand function and stereotypic hand wringing
what disorder is an X-linked dominant disorder caused by mutation in MeCP2 that functions as a transcriptional repressor
RETT syndrome
what is the distinct appearance of Fragile X syndrome
macrocephaly with long narrow face, and prominent ears, pubertal macroorchidism, and joint laxity
what chromosome is NF1 gene located on
17q
what are the clinical manifestations of neurofibromatosis type 1
learning disabilities, ADD, macrocephaly, epilepsy
what chromosome is the NF2 gene located on
22q
what is the gene product for TSC1
hamartin
what is the gene product for TSC2
tuberin
what is surge-weber syndrome characterized by
upper facial vascular nevus, leptomeningeal angioma, and ocular abnormalities
