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33 Cards in this Set
- Front
- Back
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What is the most severe anterior neuropore closure defect?
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Anencephaly
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What is it called when the cranium fails to form?
What about defects in the formation of the cranium? |
Exencephaly
Crania bifidum |
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What is the name for a herniation of the cranial contents?
Where is this herniation most common? |
Encephalocele
Occipital region |
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What is the name for a herniation that only contains meninges and CSF?
Meninges and brain? Meninges, brain and part of the ventricle? |
Meningocele
Meningoencephalocele Meningohydroencephalocele |
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What is the name for cystic defects resulting in the herniation of the cerebellar vermis through the foramen magnum?
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Arnold-Chiari Malformation
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What do you call a cavitation, or syrinx, of the spinal cord?
Of the medulla? |
Syringomyelia
Syringobulbia |
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What is the name for dysraphic effects related to the closure of the posterior neuropore?
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Myeloschisis
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The posterior neuropore involves the area just above the region of secondary neurulation. What area of the spinal cord is associated with secondary neurulation?
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Sacral and coccygeal
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Myeloschisis can result from defects in the closure of the caudal neuropore or a failure of the neural tube to induce mesoderm to form the neural arches of one or more lumbar or vertebral segments. _____ ______ is a general term for neural tube defects in the spinal region which may or may not involve neural tissue.
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Spina bifida
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This is the type of spina bifida which is only a defect of the vertebral arch fusion and the skin is closed over the defect.
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spina bifida occulta
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This is the type of spina bifida associated with a patent aperature that is not closed by the skin.
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Spina bifida aperta
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This is the type of spina bifida that is accompanied by a cystic mass.
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Spina bifida cystica
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A cyst that contains meninges and CSF is called ___________.
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Meningocele
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A cyst that contains meninges, CSF and spinal neural tissue is called _______________.
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Meningomyelocele
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Elevated levels of alpha-fetoprotein are usually present with this type of spina bifida.
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Spina bifida cystica
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___________ occurs when the neural tube does not close and is exposed without a covering of skin, bone or meninges.
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Rachischisis
(In this case, rachischisis has occured with anencephaly) |
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Neurulation refers to a process of neural plate developing into a tubular structure (neural tube).
Primary neurulation will give rise to _____ & ______ ____ through ______ levels. Secondary neurulation will give rise to ______ & _________ levels of the spinal cord. |
brain, spinal cord, lumbar
sacral, coccygeal |
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Malformations of the neural tube as part of secondary neurulation are called ______.
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myelodysplasias
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Myelodysplasias can cause abnormal adhesion of the spinal cord to the vertebral column and may also result in what syndrome?
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Tethered cord syndrome
(The spinal cord is placed under continued traction as the vertebral column grows. This may also cause Arnold-Chiari malformation) |
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What are the most common neural crest malformations (failure of neural crest cells to properly differentiate/migrate)?
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congenital megacolon and familial dysautonomia
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Congenital megacolon is associated with what disease?
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Hirschsprung disease
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Hirschspring disease results from mutations of what gene?
What does this gene code for? What does this result in? |
RET gene
Codes for a receptor essential for cell migration Parasympathetic ganglia fail to form, resulting in tonic contraction of parts of the colon and expansion of others (cannot pass meconium/earliest stool of newborn). |
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What disease results from a failure of neural crest cells to develop in the formation of ganglia, particularly sympathetic ganglia?
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Familial Dysautonomia
(all proven cases in patients of Ashkenazi Jewish extraction) |
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What is the name for the developmental separation of the prosencephalon into the diencephalon and telencephalon?
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Prosencephalization
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What is the name for the malformation that results when prosencephalization does not occur fully?
If no lobes develop? If some lobes are discernable? |
Holoprosencephaly
Alobar holoprosencephaly Semilobar holoprosencephaly |
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What is the name for the facial malformation meaning unusually close set eyes or cyclops?
(It is associated with holoprosencephaly) |
Hypotelorism
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Which of these is NOT a potential cause for holoprosencephaly?
A. Sonic hedgehog gene defect B. Cholesterol biosynthesis defect C. Maternal alcohol abuse D. Bone morphogenic gene defect |
Sonic hedgehog gene defect, cholesterol biosynthesis and maternal alcohol abuse are all potential causes of holoprosencephaly so the answer choice that is NOT a potential cause is D.
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What is the name for blocked CSF flow through the ventricles during prenatal development?
What is the most common cause? |
Congenital hydrocephalus
Congenital atresia of the cerebral aqueduct |
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What malformation results from a cystic dilation of the 4th ventricle with aplasia (congenital absence) of the cerebellar vermis?
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Dandy-Walker Malformation
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Failure of gyri to form due to disorders of cell migration is called _____________.
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Lissencephaly
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What is the name for unusually large gyri?
Unusually small gyri? |
Pachygyria
Microgyria |
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What is the name of the condition where clefts appear in one or both cerebral hemispheres as a result of defects in cell migration or blood supply to area?
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Schizencephaly
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___________ is a cranial vault size that is smaller than normal, usually as a result of a defect in brain development.
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Microcephaly
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