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20 Cards in this Set
- Front
- Back
Anencephaly
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failure of cranial neural tube closure
with resultant brain dysgenesis multifactorial inheritance folate responsive amniotic band disruption can cause phenocopy |
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Meningomyelocoele
(spina bifida) |
failure of neural tube closure with folate responsiveness
uncommon genetic or chromosomal associations |
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encephalocele
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herniation of intracranial contents through a skin covered neural tube defect
most cases are multifactorial but there is a higher incidence of chromosomal and genetic syndromes then other neural tube closure d/o. Not folate responsive |
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Occult dysraphic states
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secondary neurulation became disordered
abn deco of lower sacral and coccygeal segments lumbosacral cutaneous findings are usually present hair, dimples, tracts, masses etc |
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Holoprosecephaly
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spectrum of severe early abn in forebrain cleavage
occur sagittally resulting in fusion of c. hemi's horizontally -> optic olfactory bulbs trisomy 13, SHH etc |
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agenesis of corpus callosum
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failure or deficiency or corpus callosal axons to cross midline
asx if isolated but may occur w/ hydroceph, migration abn, etc |
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septo-optic dysplasia
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absence of septum pellucid
underdevo of optic nerves congenital visual impairment hypothalamic/endocrine dysfunction |
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Porecephaly
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cystic cavities in brain
result of transient fetal hypotension, stroke-like episode or infection |
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hydranencephaly
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essentially total infarction of feta cerebral hemispheres due to transient fetal hypotension, stroke like episodes or infection
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schizencephaly
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split brain
cleft b/w frontal and temporal lobes result of brain disruption or early arrest in devo |
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Lissencephaly
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smooth brain - absence of nml gyral pattern
freq part of genetic syndrome essentially an arrest of brain development at an immature level |
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Lissencephaly type 1
Miller-Dieker syndrome |
contiguous gene deletion syndrome of chromosome 17p13.3 (including LIS1 gene)
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Lissencephaly type 2
Walker-Warburg syndrome |
pachygryia and schizencephaly
9q31 - mapped there |
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Poymicrogyria
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gyro too small and too many
assoc w/ Zellweger syndrome |
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Chiari malformation
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1. inf. displacement of the medulla + 4th V into upper cervical canal
2. Elongation+thinning of upper medulla and lower pons and persistence of embryonic flex 3. inf. displacement of lower cerebellum through FM 4. bony defects often associated with hydrocephalus |
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Dandy-Walker syndrome
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1. cystic dilation of 4th V
2. Complete or partial a genesis of cerebellar vermis 3. Hydrocephalus |
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Dolichocephaly/scaphocephaly
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long boat shaped head
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Brachycephaly
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short w/ flat back of head
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Acrocephaly or oxycephaly
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tall pointed head
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plagiocephaly
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misshapen head
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