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Flashcards in Nervous System Development Deck (16)
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1
Q

Failure of the neural crest cells to differentiate properly. Symptoms diverse and appear to be unrelated initially. e.g. white patch of hair, pale blue eyes of different hues (melanocyte issue).

A

Waardenburg Syndrome

2
Q

Due to failure of neural crest cells to migrate into the colon – most common in rectum and sigmoid colon. The parasympathetic ganglia do not form, so normal peristalsis does not occur. Fecal retention with ballooning of the colon and abdomen

A

Hirschsprung disease or congenital megacolon.

3
Q

Failure of a significant portion of the neural tube to close resulting in exposure of the malformed neural tissue along the back of the head and body.

A

Craniorachischisis

4
Q

Failure of rostral neuropore to close.

A

Anencephaly (no brain) or meroanencephaly (remnants of brain, especially brain stem).

5
Q

Failure of caudal neuropore to close.

A

Spina bifida. From least to most severe: spina bifida occulta, meningocele, myelomeningocele.

6
Q

Failure of neural tube to close in region of occipital bone. The brain and meninges protrude through a defect in the occipital bone. Can also occur in the frontal area but more common in the occipital.

A

Anterior neural tube defect or occipital encephalocele.

7
Q

Tubular cavitation of the spinal cord – generally cervical/upper thoracic. Pathogenesis unknown; probably diverse. Neural deficits begin with loss of pain & temperature sensation over shoulders and upper arms.

A

Syringomyelia (Non-NTD)

8
Q

The forebrain does not divide into 2 hemispheres.

A

Holoprosencephaly (Non NTD)

9
Q

Dilation of the ventricles due to excess amount of CSF. Due to CSF overproduction, obstruction of flow or failure of CSF reabsorption.

A

Hydrocephalus (Non NTD)

10
Q

Partial or complete absence of cerebellar vermis.

A

Dandy-Walker Malformation (Non NTD)

11
Q

Herniation of cerebellar tonsils.
Type 1: may be asymptomatic or may not be evident until 30’s or 40’s
Type 2: herniation below foramen magnum; often accompanied by myelomeningocele
Type 3: occipital encephalocele, syringomelia
Type 4: lack of cerebellar development

A

Arnold-Chiari malformation (Non-NTD)

12
Q

Failure of skull to form

A

Acrania

13
Q

Autosomal dominant genetic disorder characterized by craniosynostosis and other congenital abnormalities e.g. syndactyly of hands and feet; mental retardation

A

Apert syndrome

14
Q

Small head due to a brain that fails to grow

A

Microcephaly

15
Q

Skull defect through which the meninges and/or brain herniate.

A

Cranioschisis

16
Q

Premature closer of one or more sutures that produces a misshapen skull.

A

Craniosynostosis e.g. brachycephaly, oxycephaly, plagiocephaly, scaphocephaly.