Rubin's 28: Nervous System

Question 1

What is the diagnosis? Baby born with gross deformity of lower back; Subcutaneous lesion has disorganized neural tissue and entrapment of nerve roots;

Answer 1

Meningomylocele Neural tube defect; Exposes the spinal canal; Causes entrapment of nerve roots

Question 2

Congenital atresia of ______ is the most common cause of congenital hydrocephalus.

Answer 2

Aqueduct of Sylvius

Question 3

CSF is formed principally by what brain area?

Answer 3

Choroid plexus

Question 4

What is Polymicrogyria?

Answer 4

Common cause of mental retardation Surface of brain shows multiple small, irregularly sized, randomly-distributed gyral folds

Question 5

What is the diagnosis? Trinucelotide repeat pathology; Mild scoliosis; New onset difficult walking; Lower-limb areflexia; dysarthria; cardiomyopathy

Answer 5

Friedreich Ataxia combined ataxia of upper and lower limbs extensor plantar reflexes and sensory loss also common; scoliosis, diabetes mellitus; autosomal recessive - inherited hypertrophic cardiomyopathy is common cause of death

Question 6

What is the most common chronic CNS disease among young adults in the US?

Answer 6

Multiple sclerosis End-stage in brain: astrogliosis, thick-walled blood vessels, perivascular inflammation, secondary loss of axons

Question 7

Associate negri bodies with what diagnosis?

Answer 7

Rabies tendency to aspirate fluids = “hydrophobia” perivascular cuffing my lymphocytes

Question 8

Associate Lewy bodies with what diagnosis?

Answer 8

Parkinson’s disease Eosinophilic inclusions composed of filamentous aggregates of alpha-synuclein

Question 9

Accumulation of blood between the calvaria and the dura is what kind of hematoma?

Answer 9

Epidural Commonly associated with trauma - bone fracture severs middle meningeal artery

Question 10

Pernicious anemia can have what CNS complication?

Answer 10

Lesions in the posterolateral spinal cord –> degeneration –> paresthesias and burning sensations in feet, weakness of legs Once these effects hit, it is not commonly reversible

Question 11

Wernicke syndrome is secondary to thiamine deficiency. Atrophy of what parts of the brain would be seen on autopsy?

Answer 11

Mamillary bodies and hypothalamus Periaqueductal regions of the midbrain and the tegmentum of the pons

Question 12

What is a lethal complication? Infant with severe GI fluid loss ie. from diarrhea

Answer 12

Venous sinus thrombosis in the brain

Question 13

What is the diagnosis? One pupil blown; Follows trauma; Death; Duret hemorrhages in the midbrain

Answer 13

Transtentorial herniation

Question 14

Charcot-Bouchard aneurysms can be seen in what diagnosis?

Answer 14

HTN cerebral lipohyalinosis –> weakening of arterial walls –> cerebral microaneurysms

Question 15

Leptomeningitis refers to an inflammatory process localized to the:

Answer 15

pia and arachnoid

Question 16

What is the main culprit of meningitis in newborns?

Answer 16

E. Coli

Question 17

What is the diagnosis? Accumulation of ganglioside GM1 in the CNS neurons; Progressive muscle weakness; Blindness; Death in early childhoo

Answer 17

Tay-Sachs AR disorder Inborn deficiency of hexaminidase A

Question 18

Herpes simplex type 1 targets has tropism for what parts of the brain?

Answer 18

Temporal lobes

Question 19

Poliovirus has tropism for what part of the brain?

Answer 19

Brainstem nuclei

Question 20

What is the diagnosis? Cerebral calcifications and convulsions in a neonate; Intranuclear and intracytoplasmic inclusions in neurons and astrocytes; TORCH infection

Answer 20

CMV

Question 21

A berry aneurysm is also known as a:

Answer 21

saccular aneurysm congenital most often found in the circle of Willis

Question 22

What is the most common site for a stroke due to hypertension?

Answer 22

basal ganglia/thalamic area (65%)

Question 23

Necrosis of pyrimidal neurons of Sommer’s sector in the hippocampus occurs as a consequence of:

Answer 23

global anoxia

Question 24

Progressive multifocal leukoencephalopathy (PML) is a destructive disease caused by JC virus. What are the symptoms?

Answer 24

Dementia Visual loss Progressive weakness Can follow cadaveric transplant (due to immunosuppression) Lesions of demyelination near gray-white junction in cerebral hemispheres and brainstem

Question 25

Central pontine myelinolysis is a rare demyelinating disorder of the pons seen in what population?

Answer 25

Alcoholics

Question 26

Small emboli, notably those composed of fat or air, occlude capillaries and cause _______

Answer 26

petechiae

Question 27

Occlusion of the vertebral artery results in infarcts in what part of the brain?

Answer 27

Cerebellum

Question 28

What is the diagnosis? Failure to thrive; Respiratory insufficiency; Accumulation of cerebroside in the white matter of the brain and peripheral nerves; Accumulation of arylsulfate (no functioning arylsufatas)

Answer 28

MLD - Metachromatic Leukodystrophy inborn error of metabolism

Question 29

What is the diagnosis? Child with progressive decline in motor and sensory functions; X-linked disorder; Dysfunction of the adrenal cortex; Demyelination of the nervous system are associated with high levels of saturated very long-chain fatty acids in tissues and body fluid; Body quickly reduced to vegetative state

Answer 29

ALD - Adrenoleukodystrophy Defect in peroxisomal membrane prevents the normal activation of free fatty acids by the addition of CoA –> fatty acids accumulate in gangliosides and myelin

Question 30

What is the diagnosis? deficiency of galactocerebroside beta-galactosidase activity; disease of white matter - accumulation of “globoid cells”

Answer 30

Krabbe disease rapidly progressive; fatal; AR disorder; presence of perivascular aggregates of mononuclear and multinucleated cells in the white matter

Question 31

Associate Alexander disease with:

Answer 31

Rosenthal fibers Alexander disease is a rare neurologic disorder of infants; mutation in gene encoding glial fibrillary acidic protein

Question 32

Reactivation of latent measles virus can cause what lethal viral infection?

Answer 32

SSPE - subacute sclerosing panencephalitis Intranuclear inclusions in neurons and oligodendroglia, marked gliosis in affected gray and white matter, patchy loss of myelin, perivascular lymphocytes and macrophages.

Question 33

Children with medulloblastoma are first seen with what neurologic symptoms?

Answer 33

Cerebellar dysfunction (gait and balance); Hydrocephalus

Question 34

What is the diagnosis? Hereditary syndrome; Cerebellar hemangioblastomas are associated with retinal angiomas, renal cell carcinomas;

Answer 34

Von Hippel-Lindau syndrome Mutation in the VHL tumor suppressor gene

Question 35

What is the diagnosis? Facial port-wine stain (Nevus Flammeus); Angiomas of the leptomeninges

Answer 35

Sturge-Weber syndrome Nonfamilial congenital disorder

Question 36

HMB-45 is a useful tumor marker for:

Answer 36

Melanoma Mets can go to the brain - test for HMD-45 in the brain

Question 37

A “butterfly like” lesion in the brain is suggestive of what diagnosis?

Answer 37

Glioblastoma multiforme Can invade the contralateral hemisphere across the corpus callosum (looks like a butterfly)

Question 38

What is the diagnosis? Tumor that originates in the lining of the cavities that contain CSF; Most common site for this tumor is the 4th ventricle –> creates an obstruction which leads to hydrocephalus; Not easily resectable

Answer 38

Ependymoma Cells have an “epithelial” appearance May also originate from the lining of the central canal of the spinal cord and the filum terminale

Question 39

What is the histologic hallmark of meningiomas?

Answer 39

Whorled pattern of “meningothelial” cells Meningiomas grow very slowly

Question 40

Where does the deposition of copper occur in the brain that leads to the neurologic deficits associated with Wilson disease, such as lack of coordination and tremor?

Answer 40

Corpus striatum

Question 41

What is the diagnosis? Syndrome; Bilateral tumors of the 8th cranial nerve (acoustic neuromas); meningiomas and gliomas common;

Answer 41

Neurofibromatosis type 2

Question 42

What is the difference between Neurofibromatosis type 1 and 2?

Answer 42

NF2 exhibits acoustic neuromas, but NF1 does not

Question 43

T/F: Diabetes affects both the sensory and the motor portions of the peripheral nervous system.

Answer 43

True Common cause of distal polyneuropathy