Congenital Abnormalities Of The Cns

Front 1

What are the MC risk factors for neural tube defects?

Back 1

1. Folate deficiency

2. MTHFR mutations

Front 2

How do you test for neural tube defects?

Back 2

1. AFP---- peaks at 12-14 weeks

2. AChE

Front 3

What are the ssx of spina bifida occulta?

Back 3

1. Vertebral arches absent

2. Hairy skin patch overlies defect

3. Filum terminale normal

Front 4

What is tethered cord syndrome?

Back 4

1. Conus medullaris pulled lower than L2--- traction

2. Low back pain, scoliosis, LE weakness, sensory loss

Front 5

What are the ssx of meningocele?

Back 5

1. Extrusion of meninges through bony defect in vertebral column

2. Nerves do not protrude

Front 6

What are the ssx of myelomenigocele?

Back 6

1. Protrusion of meninges and neural tissue

2. Motor and sensory dysfunction of LE

3. Prone to ulceration

Front 7

What are the ssx of an enancephalocele?

Back 7

1. Protrusion of brain through skull (occipital)

2. Part of brain protruding destroyed by ischemia

3. Can be incompatible with life

Front 8

What is anencephaly?

Back 8

1. Absence of brain and calcarium

2. Incompatible with life

Front 9

What is a cerebrovasculosa?

Back 9

1. Small, vascular mass of disordganized neural tissue

2. Due to cerebral death in anencephaly

Front 10

What is megalencephaly?

Back 10

1. Brain weight exceeding 1800gm or 3 SD above the mean

2. Results from abnormal neuronal/glial proliferation or apoptosis

Front 11

What are the ssx of megalencephaly?

Back 11

1. Delayed development

2. Seizures

3. Corticospinal dysfunction

Front 12

What is microencephaly?

Back 12

1. Head circumference 2-3 SD below the mean

2. Causes subnormal intelligence

Front 13

What are the MCC of microencephaly?

Back 13

1. Chromosomal abnormalities

2. Infection acquired in utero

3. Fetal alcohol ysndrome

4. Hypopituitarism

Front 14

What are the ssx lissencephaly?

Back 14

1. Absence of cortical gyri

2. Microcephaly

3. Neurologic impairment and intractable seizures

Front 15

What is the MCC of lissencephaly?

Back 15

1. Mutations of LIS-1 gene

2. Loss of one copy

3. Loss of both copies is fatal

Front 16

What are the ssx of polymicrogyria?

Back 16

1. Small, numerous, irregularly formed cerebral convolutions

2. Disorder of neuronal migration

3. Bilateral and symmetric

Front 17

What is the MCC of holoprosencephaly?

Back 17

1. Incomplete separation of cerebral hemispheres across midline

2. Should happen weeks 4-6 of development

Front 18

What are the ssx of holoprosencephaly?

Back 18

1. Proboscis

2. Single nostril

3. Cleft lip

4. Cleft palate

5. Hypotelorism

6. Diabetes insipidus

Front 19

What genetic abnormalities are associated with holoprosencephaly?

Back 19

1. Trisomy 13

2. Trisomy 18

3. Mutations involving sonic hedgehog type protein

Front 20

What are the MCC Of agencies of the corpus callosum?

Back 20

1. Trisomy 13

2. Trisomy 18

3. Malformation sydnromes

4. Metabolic syndromes

Front 21

What are the ssx of a Dandy-Walker malformation?

Back 21

1. Failure of foramina of Luschka and Magendie

2. Enlarged posterior fossa

3. Complete or partial agencies of cerebellar vermis

4. Non-communicating hydrocephalus

Front 22

What takes the place of the cerebellar vermis in a Dandy-Walker malformation?

Back 22

1. Midline cystic dilatation of 4th ventricle

Front 23

How do you tx a Dandy-Walker malformation/

Back 23

1. Shunt

Front 24

What are the ssx of a Chiari I?

Back 24

1. Reduced volume of posterior fossa

2. Herniation of cerebellar tonsils

3. Can have syringomyelia or hydromyelia

4. NO associated neural tube defect

Front 25

What are the ssx of a Chiari II?

Back 25

1. Neural tube defect

2. Smal posterior fossa

3. Misshapen midline cerebellum

4. Downward displacement of cerebellar vermis through foramen magnum

Front 26

With what disorder is Chiari II associated?

Back 26

1. Thoracolumbar myelomeningocele

2. Hydro/syringomyelia

Front 27

What are the ssx of syringomyelia?

Back 27

1. Formation of a fluid-filled cavity lined by glial tissue

2. Atrophy of gray and white matter in spinal cord

3. Loss of pain and temp sensation in UE

Front 28

What are the ssx of hydromyelia?

Back 28

1. Cystic dilatation of central canal of spinal cord

2. Connected to 4th ventricle

Front 29

What are the ssx of a colloid cyst?

Back 29

1. Non-neoplastic

2. Non-communicating hydrocephalus due to ball-valve obstruction of foramina of Munro

3. Attached to roof of 3rd ventricle

Front 30

What are the ssx of CP?

Back 30

1. Spasticity

2. Dystonia

3. Ataxia/athetosis

4. Paresis

Front 31

What are the ssx of intraparenchymal hemorrhage in premature babies?

Back 31

1. Lack ability to auto regulate CNS BP

2. Increased risk for ICH

Front 32

What is the MCC of periventricular leukomalacia?

Back 32

1. Infarct in periventricular white matter

2. At risk for motor disorders, delayed mental development, coordination problems,and vision and hearing impairments

Front 33

What is the gross appearance of PVL?

Back 33

1. Chalky yellow plaques--- discrete regions of white matter necrosis and calcification

Front 34

What is multi cystic encephalopathy?

Back 34

1. Large destructive cystic lesions secondary to extensive ischemic damage throughout both hemispheres