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19 Cards in this Set
- Front
- Back
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Extra chromosome abnormalities
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trisomy 12-15: die w/n 6 mos.
18: die w/n 1st year, underdeveloped brain, abnormal stacking in cortex layer of cerebellum trisomy 21- AKA down syndrome- fewer neuronal synapses |
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Cat cry syndrome
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missing parts of 5th chromosome, noises like cat, atrophy of phoetic center
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neurofibromatosis
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tumors grow into CT capsules- "elephant man"
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***triad of symptoms in Tuberous Sclerosis
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1- skin lesion
2- calcifications in brain 3- seizures |
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BACK Q- which of the following congenital anomalies is not associated with mental retardation- trisomy 13-15, phenylketonuria, trisomy 21, Tuberous sclerosis, cat cry syndrom
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tuberous sclerosis
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phenylketonuria
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When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone)- toxic to brain
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T/F hydrocephalus is a disease
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F it's a symptom- caused by tumor, aneurysm etc
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BACK Q: main cause of congenital hydrocephalus
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block CSF flow
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communicating hydrocephalus- causes
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only partial blockage of csf due to CALM: Cephaloceles (brain mass into subarachnoid space) Arnold-chiaris, Lissencephaly- don't form secondary/tertiary gyri, Meningeal inflammation
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non communicating hyrdrocephalus causes
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Cyst, tymo, aneurysm, dandy-walker
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**kinked medulla (apnea), in patients with spina bifida cystica
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Arnold-Chiari syndrome- SMALL posterior cranial fossa
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BACK Q no opening from 4th ventricle to subarachnoid space=
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dandy-walker- "Dandy Walker Syndrome":
Dilated 4th ventricle Water on the brain Small vermis |
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arnold chiari has communicating hydrocephalus- T/f
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TRUE- AND Dandy-walker has non-communicating hydrocephalus
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describe dandy walker
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NO foramen of magendie or foramina of Luschka, gair abnormaility BIG posterior cranial fossa
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spinous process of vertebrae may be missing and vertebral canal is exposed posteriorly
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spina bifida oculta
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spina bifida cystica
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spinal cord and coverings are involved in adiiton to vertebral defect in occulta
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10% of spina bifida cystica get ___
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meningocele- csf filled cyst on the back- only SC coverings protrude-SC normal
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90% of spina bifida cystica get
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myelomeningocele- coverings of SC and SC is involved- UMN and LMN lesions
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where does spina bifida cystica occur most frequently
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Lumbar
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