Path: Congenital Malformations Flashcards

0
Q

Major nutrient deficiency that leads to neural tube defects.

A

Folic Acid (B9)

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1
Q

Extreme defect in the spinal column when the neural tube fails to close and the overlying vertebrae fail to form. The spinal cord is exposed to the exterior environment.

A

Rachischisis

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2
Q

Protein that can be measured in maternal serum while pregnant with a fetus that can indicate developmental deformity.

A

Alpha-fetoprotein

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3
Q

Dilation of the central canal of the spinal cord.

A

Hydromyelia

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4
Q

How is hydromyelia differentiated from syringomyelia?

A

Hydromyelias will still have ependymal cells lining the cavity.

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5
Q

Name the 4 most common types of cerebral palsy.

A
  1. Spastic Palsy
  2. Athetoid Palsy
  3. Ataxic Palsy
  4. Mixed Palsy
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6
Q

What is an Arnold-Chiari malformation?

A

Malformation where the tonsil of the cerebellum either herniates or is pulled into the foramen magnum with the brainstem and cervical spinal cord.

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7
Q

What two other malformations are associated with AC malformation?

A
  1. Syringomyelia

2. Lumbar Meningomyelocele

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8
Q

What is the major differentiating factor between a type 1 Chiari malformation and types 2 and 3?

A

Type 2 and 3 will have either a meningocele or a meningomeylocele. Type 1 usually just manifests with headaches.

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9
Q

What is a Dandy-Walker malformation?

A

Underdeveloped or absent cerebellar vermis replaced with a fluid filled sac in the posterior cranial fossa.

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10
Q

How can meningitis lead to hydrocephalus?

A

Post-meningitis scar formation can occur in the meninges around the arachnoid villi. These drainage vessels can be occluded by the scar tissue.

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11
Q

What is hydrocephalus ex vacuo?

A

Enlargement of cerebral ventricles and subarachnoid space usually resulting from brain atrophy.

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12
Q

What is polymicrogyria?

A

Excessive amounts of smaller than normal gyri.

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13
Q

What is pachygyria

A

Decreased number of gyri but they are broad

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14
Q

What is lessencephaly?

A

Smooth cortical surfaces of the brain with imperfectly formed gyri.

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15
Q

What are heterotopias?

A

Ectopic Neurons that form extra layers of cortex possibly resulting from maternal alcoholism.

16
Q

What is a condition that Down Syndrome patients commonly develop?

A

Alzheimer Disease

17
Q

Which chromosomes are associated with Holoprosencephaly?

A

13-15

A trisomy in any one of these

18
Q

What leads to the characteristic symptoms of Holoprosencephaly where patients cannot smell anything?

A

Arrhinencephaly: absence of olfactory tracts and bulbs.