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Neuroembryology II Malformations in development
N/A
47
Anatomy
Graduate
01/28/2012

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Cards

Term
Defects in neurulation (neural tube formation and neural pore closure) are known as what?
Definition
Dysraphic defects
Term
Incidence of dysraphic defects may be reduces up to 70% by supplementation with what during pregnancy?
Definition
Folic acid
Term
Failure of neural tube closure occurs most often at what point?
Definition
Anterior or posterior neuropore
Term
The final anterior neuropore closure is located at what level?
Definition
Lamina terminalis (anterior wall of the third ventricle below the anterior commissure)
Term
Why does failure of the anterior neuropore to close properly often results in defects between the lamina terminalis and the cervical levels of the spinal cord?
Definition
Once the neural tube is formed, it separates from the surface of the ectoderm which then proceeds to grow over the midline
Term
Anencephaly is what kind of defect?
Definition
Anterior neuropore closure defect
Term
What characterizes anencephaly?
Definition
Brain does not form, surrounding meninges and skull may not develop properuly, neonatal death
Term
What are some associated causes of anencephaly?
Definition
Maternal hyperthermia, maternal infection, sauna baths
Term
Herniation of cranial contents that may accompany defects in the formation of the cranium is known as what?
Definition
Encephalocele
Term
Encephaloceles are most common in what region of the brain?
Definition
Occipital
Term
Herniation of solely the meninges and CSF is known as what?
Definition
Meningocele
Term
Herniation of both the meninges and the brain is known as what?
Definition
Meningoencephalocele
Term
Herniation of the meninges, brain, and part of the ventricles is known as what?
Definition
Meningohydroencephalocele
Term
Cystic defects resulting in the herniation of the cerebellar vermis through the foramen magnum and oftenc ausing pressure on the medulla and cervical spinal cord is known as what defect?
Definition
Arnold-Chiari
Term
Arnold-Chiari may be accompanied by a cavitation of the spinal cord or medulla. What are the names of these defects?
Definition
Syringomyelia, syringobulbia
Term
Syringomyelia or syringobulbia results in what other condition involving cerebrospinalfluid?
Definition
Blockage of ventricles leading to hydrocephalus
Term
Defects due to a failure of the posterior neuropore to close that affects the spinal cord and surrounding tissues are known as what?
Definition
Myeloschisis
Term
What general term is used for neural tube defects in the spinal region that may or may not involve neural tissue?
Definition
Spina bifida
Term
Defects of vertebral arch fusion where skin is closed over the malformation are known as what?
Definition
Spina bifida occulta
Term
What usually marks a site of spina bifida occulta?
Definition
Patch of coarse hairs
Term
Defects of vertebral arch fusion where skin is not closed over the malformation and a patent aperture is present are known as what?
Definition
Spina bifida aperta
Term
Spina bifida that are accompanied by a cystic mass are known as what?
Definition
Spina bifida cystica
Term
A cyst containing only meninges and cerebrospinal fluid is known as what?
Definition
Meningocele
Term
Cysts containing spinal neural tissue along with meninges and cerebrospinal fluid are known as what?
Definition
Meningomyelocele
Term
What substances is usually found in elevated levels in cases of spinal bifida cystica?
Definition
Alpha-fetoprotein
Term
Spinal bifida cystica is usually accompanied by what other clinical symptoms?
Definition
Hydrocephalus and Arnold Chiari malformation
Term
Failure of posterior neural tube closer and exposure of bone or meninges is known as what?
Definition
Rachischisis
Term
Malformations of the neural tube as part of secondary neurulation are called what?
Definition
Myelodysplasias
Term
Myelodysplasias may be visible in what form?
Definition
Dimpled or unusually pigmented skin, hair growth, and telangiectasias (large superficial capillaries/spider veins)
Term
Myelodysplasias that cause abnormal adhesion of the spinal cord to the vertebral column is known as what?
Definition
Tethered cord syndrome
Term
What are symptoms associated with tethered cord syndrome?
Definition
Spinal cord placed under continued traction as vertebral column grows, may be damaged resulting in anesthesia in the legs and bladder control problems
Term
How might tethered cord syndrom cause Arnold-Chiari?
Definition
Growth of spinal column may also pull brainstem and cerebellum caudally into the foramen magnum, compressing the brainstem
Term
What are the most common congenital malformations associated with peripheral nervous system development that result due to the failure of neural crest cells to properly differentiate or migrate?
Definition
Congenital megacolon and familial dysautonomia
Term
Failure of parasympathetic ganglia to form on portions of the colon due to mutations of the RET gene coding for receptors essential for cell migration is known as what?
Definition
Hirschsprung disease
Term
Hirschsprung disease is characterized by abnormal tonic contractions in parts of the colon and expansion in others which is known generally as what symptom?
Definition
Congenital megacolon
Term
How is congenital megacolon treated?
Definition
Removal of affected area of bowel
Term
Failure of neural crest cells to develop in the formation of parasympathetic ganglia resulting in impaired pain, temperature sensation, and autonomic defects is known as what?
Definition
Familial dysautonomia
Term
Familial dysautonomia has thus far been exclusive to patients of what heritage?
Definition
Ashkenazi Jews
Term
What prosencephalization defect results in an absence of lobes?
Definition
Alobar holoprosencephaly
Term
What prosencephalization defect results in the presence of malformed, partly discernible lobes?
Definition
Semilobar holoprosencephaly
Term
What may be poorly developed other than the lobes in cases of holoprosencephaly?
Definition
Thalamus, corpus callosum, olfactory structures, meningeal structures, may result in hypotelorism (cyclops)
Term
What are some possible causes of hypoterlorism (cyclops) associated with holoprosencephaly?
Definition
Defect in SHH gene or cholesterol biosynthesis, maternal alcohol abuse
Term
What are possible consequences of hydrocephalus
Definition
Expansion of the cranium during development due to ventricular enlargement
Term
Cystic dilation of the fourth ventricle with aplasia of the cerebellar vermis is known as what?
Definition
Dandy-Walker malformation
Term
How are Dandy-Walker malformations treated?
Definition
Placement of a cerebrospinal fluid shunt
Term
A smooth cortical surface due to failure of gyri to form is known as what?
Definition
Lissencephaly
Term
Unusually large or small gyri are known as what?
Definition
Pachygyria, microgyria respectively
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