What is the diagnosis? Baby born with gross deformity of lower back; Subcutaneous lesion has disorganized neural tissue and entrapment of nerve roots;
Meningomylocele Neural tube defect; Exposes the spinal canal; Causes entrapment of nerve roots
Congenital atresia of ______ is the most common cause of congenital hydrocephalus.
Aqueduct of Sylvius
CSF is formed principally by what brain area?
What is Polymicrogyria?
Common cause of mental retardation Surface of brain shows multiple small, irregularly sized, randomly-distributed gyral folds
What is the diagnosis? Trinucelotide repeat pathology; Mild scoliosis; New onset difficult walking; Lower-limb areflexia; dysarthria; cardiomyopathy
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
What is the most common chronic CNS disease among young adults in the US?
Multiple sclerosis End-stage in brain: astrogliosis, thick-walled blood vessels, perivascular inflammation, secondary loss of axons
Associate negri bodies with what diagnosis?
Rabies tendency to aspirate fluids = "hydrophobia" perivascular cuffing my lymphocytes
Associate Lewy bodies with what diagnosis?
Parkinson's disease Eosinophilic inclusions composed of filamentous aggregates of alpha-synuclein
Accumulation of blood between the calvaria and the dura is what kind of hematoma?
Epidural Commonly associated with trauma - bone fracture severs middle meningeal artery
Pernicious anemia can have what CNS complication?
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
Wernicke syndrome is secondary to thiamine deficiency. Atrophy of what parts of the brain would be seen on autopsy?
Mamillary bodies and hypothalamus Periaqueductal regions of the midbrain and the tegmentum of the pons
What is a lethal complication? Infant with severe GI fluid loss ie. from diarrhea
Venous sinus thrombosis in the brain
What is the diagnosis? One pupil blown; Follows trauma; Death; Duret hemorrhages in the midbrain
Charcot-Bouchard aneurysms can be seen in what diagnosis?
HTN cerebral lipohyalinosis --> weakening of arterial walls --> cerebral microaneurysms
Leptomeningitis refers to an inflammatory process localized to the:
pia and arachnoid
What is the main culprit of meningitis in newborns?
What is the diagnosis? Accumulation of ganglioside GM1 in the CNS neurons; Progressive muscle weakness; Blindness; Death in early childhoo
Tay-Sachs AR disorder Inborn deficiency of hexaminidase A
Herpes simplex type 1 targets has tropism for what parts of the brain?
Poliovirus has tropism for what part of the brain?
What is the diagnosis? Cerebral calcifications and convulsions in a neonate; Intranuclear and intracytoplasmic inclusions in neurons and astrocytes; TORCH infection
A berry aneurysm is also known as a:
saccular aneurysm congenital most often found in the circle of Willis
What is the most common site for a stroke due to hypertension?
basal ganglia/thalamic area (65%)
Necrosis of pyrimidal neurons of Sommer's sector in the hippocampus occurs as a consequence of:
Progressive multifocal leukoencephalopathy (PML) is a destructive disease caused by JC virus. What are the symptoms?
Dementia Visual loss Progressive weakness Can follow cadaveric transplant (due to immunosuppression) Lesions of demyelination near gray-white junction in cerebral hemispheres and brainstem
Central pontine myelinolysis is a rare demyelinating disorder of the pons seen in what population?
Small emboli, notably those composed of fat or air, occlude capillaries and cause _______
Occlusion of the vertebral artery results in infarcts in what part of the brain?
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)
MLD - Metachromatic Leukodystrophy inborn error of metabolism
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
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
What is the diagnosis? deficiency of galactocerebroside beta-galactosidase activity; disease of white matter - accumulation of "globoid cells"
Krabbe disease rapidly progressive; fatal; AR disorder; presence of perivascular aggregates of mononuclear and multinucleated cells in the white matter
Associate Alexander disease with:
Rosenthal fibers Alexander disease is a rare neurologic disorder of infants; mutation in gene encoding glial fibrillary acidic protein
Reactivation of latent measles virus can cause what lethal viral infection?
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.
Children with medulloblastoma are first seen with what neurologic symptoms?
Cerebellar dysfunction (gait and balance); Hydrocephalus
What is the diagnosis? Hereditary syndrome; Cerebellar hemangioblastomas are associated with retinal angiomas, renal cell carcinomas;
Von Hippel-Lindau syndrome Mutation in the VHL tumor suppressor gene
What is the diagnosis? Facial port-wine stain (Nevus Flammeus); Angiomas of the leptomeninges
Sturge-Weber syndrome Nonfamilial congenital disorder
HMB-45 is a useful tumor marker for:
Melanoma Mets can go to the brain - test for HMD-45 in the brain
A "butterfly like" lesion in the brain is suggestive of what diagnosis?
Glioblastoma multiforme Can invade the contralateral hemisphere across the corpus callosum (looks like a butterfly)
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
Ependymoma Cells have an "epithelial" appearance May also originate from the lining of the central canal of the spinal cord and the filum terminale
What is the histologic hallmark of meningiomas?
Whorled pattern of "meningothelial" cells Meningiomas grow very slowly
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?
What is the diagnosis? Syndrome; Bilateral tumors of the 8th cranial nerve (acoustic neuromas); meningiomas and gliomas common;
Neurofibromatosis type 2
What is the difference between Neurofibromatosis type 1 and 2?
NF2 exhibits acoustic neuromas, but NF1 does not
T/F: Diabetes affects both the sensory and the motor portions of the peripheral nervous system.
True Common cause of distal polyneuropathy