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Neurosurgery Flash Cards > Board Neurology Review > Flashcards

Board Neurology Review Flashcards

1
Q

Type 1, 2, 3, 5 and 7 Glycogen storage disease names

A

Type 1 - Von Gierke’s

Type 2 - Pompes

Type 3 - Cori’s

Type 5 - McArdle

Type 7 - Tauri’s

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2
Q

Inheritance pattern of all the glycogen storage diseases

A

autosomal recessive

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3
Q

enzyme deficiency in von gierke disease

A

glucose-6-phosphatase deficiency

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4
Q

enzyme deficiency in Pompe’s disease

A

acid maltase (alpha-galactosidase)

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5
Q

enzyme deficiency in Cori’s disease

A

debranching enzyme amylo-1,6- glucosidase

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6
Q

enzyme deficiency in McArdle’s disease

A

myophosphorylase

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7
Q

enzyme deficiency in Tauri disease

A

phosphofructokinase

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8
Q

Hurler Syndrome

A
  • MPS1 -autosomal recessive
  • enzyme: a-L-iduronidase
  • elevated urine dermatan and heparin sulfate
  • mental retardation, gargoyle face, thick meninges, CORNEAL CLOUDING, retinopathy, cardiac disease, deafness
  • usually fatal by 10 years from cardiac or respiratory complications
  • ZEBRA BODIES
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9
Q

Hunter Syndrome

A
  • MPS2 -X linked recessive
  • enzyme: iduronate-2-sulfatase
  • dwarfism, HSM, coarse facial features, deafness, hydrocephalus
  • minimal mental retardation, slower disease
  • the severe variant can cause death 15 yoa
  • INCREASED URINARY EXCRETION OF DERMATAN SULFATE
  • no corneal clouding -pebbled skin over the scapula
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10
Q

Scheie syndrome

A
  • milder form of Hurler syndrome
  • autosomal recessive
  • enzyme: a-L-iduronidase
  • may like normal lifespans
  • no mental retardation
  • spinal cord compression and corneal opacities can occur
  • increased urinary dermatan and heparin sulfate -zebra bodies
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11
Q

Sanfilippo Syndrome

A
  • MPS3
  • autosomal recessive
  • increased urinary excretion of heparin sulfate
  • enzyme: heparin sulfatase
  • mental retardation, ataxia, hirsuitism, seizures, dementia, and progressive quadriparesis
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12
Q

Morquio’s Syndrome

A
  • MPS4
  • autosomal recessive
  • enzyme: B-galactosidase or galactose-6-sulfatase (severe)
  • dwarfism, joint laxity, HSM, deafness, cardiac disease, respiratory disease
  • AA subluxation -> cervical cord compression
  • increased urinary excretion of keratan sulfate
  • death from respiratory or cardiac failure usually occurs in 3rd decade
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13
Q

Maroteaux-Lamy syndrome

A
  • MPS 6
  • autosomal recessive
  • enzyme: arylsulfatase B
  • urinary dermatan sulfate
  • cervical myelopathy, HSM, no mental retardation
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14
Q

sly’s Syndrome

A
  • MPS7
  • autosomal recessive
  • enzyme: B-glucouronidase
  • urinary heparan, dermatan and chondroitin sulfate
  • mental retardation, corneal clouding, HSM, bony changes
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15
Q

Enzyme deficiency in Krabbe disease

A

Galactocerebrosidase B-galactosidase

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16
Q

krabbe disease

A
  • AR
  • enzyme: Galactocerebrosidase
  • accumulation: psychocine -> primarily affects oligodendrocytes
  • histology: globoid macrophages
  • symptom onset 3-6months of age
  • hypertonicity, hyper-reflexia followed by progresive flaccid paralysis and loss of DTRs, dysphagia, seizures and death by 2-3 years of age
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17
Q

Alexander disease

A
  • sporadic inheritance
  • infants in first year of life with macrocephaly, spasticity, seizures, gradual loss of developmental milestones
  • numerous Rosenthal fibers
  • initially affects frontal lobe white matter before progressing posteriorly
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18
Q

Metachromatic Leukodystrophy

A
  • autosomal recessive
  • enzyme: arylsulfatase A deficiency
  • most common leukodystrophy
  • abnormal accumulation of sulfatide and affects both peripheral and central myelin
  • flaccid paralysis, decreased DTRs, slowed NCV, optic atrophy, pseudobulbar palsy
  • SPARES SUBCORTICAL U FIBERS
  • hirsch-peiffer reaction -> tissue turns brown with acidic cresyl violet
  • PAS + macrophages
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19
Q

Adrenoleukodystrophy

A
  • X-linked
  • defective peroxismal very long chain fatty acid B-oxidation
  • accumulation: very long chain fatty acids
  • present between 5 and 8 yoa
  • bronze skin, dementia, behavior changes, optic atrophy, neuropathy, adrenal insufficiency, mental retardation
  • SPARES U FIBERS
  • PARIETO-OCCIPITAL CAVITATION
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20
Q

Pelizaeus-Merzbacher Disease

A
  • X linked Recessive
  • deficient or abnormal myelin proteolipid protein
  • presents in infancy with spasticity, ataxia, optic atrophy, seizures, rotatary nystagmus, delayed development
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21
Q

Canavan Disease

A
  • AR
  • enzyme: aspartoacylase (amino-acidopathy)
  • presents b/w 2 and 4 months of ae
  • hypotonia, optic atrophy, developmental delay, macrocephaly
  • markedly enlarged mitochondria
  • INVOLVES SUBCORTICAL U FIBERS
  • INCREASED NAA ON MRS
  • predilection for Ashkenazi Jews
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22
Q

Gaucher Disease

A
  • AR
  • enzyme: glucocerebrosidase deficiencey
  • accumulation: glucocerebrosides
  • 4 types
  • infantile form -> cherry red macula, HSM, seizures, early death
  • thrombocytopenia, anemia
  • chronic non-neuonopathic form -> visceral storage in spleen, kidneys, heart, liver
  • WRINKLED TISSUE PAPER CELLS
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23
Q

Tay-Sachs Disease

A
  • AR
  • deficiency in Hexoaminidase A
  • accumulation of Gm2 gangliosides
  • presents between 4-6 months of age
  • hyper-reflexia, seizures, hypotonia, cherry red macula, blindess, myoclonic jerks, MACROCEPHALY
  • death by 3-5; ashkenazi jews
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24
Q

Sandhoffs disease

A
  • AR
  • deficiency in Hexoaminidase A&B
  • similar to tay sachs; cherry red maculo, HSM
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25
Q

Infantile GM2 Gangliosidosis

A
  • AR
  • deficiency B-galactosidase
  • cherry red macula, HSM, BONY ABNORMALITIES, dysmorphic facial features, contractures
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26
Q

Neimann Pick Disease

A
  • AR
  • deficiency in sphingomyelinase
  • accumulation of sphingolipids
  • FOAM Cells
  • hypotonia, mental retardation, cherry red macula, HSM, usually die 4-5yrs
  • ataxia, seizurs, supranuclear vertical gaze palsy
27
Q

Fabry Disease

A
  • X linked recessive
  • deficiency in Alpha-galactosidase A
  • accumulation of ceramide trihexoside in skin, blood vessels, kidney, heart
  • extremity pain or paraesthesias, telangiectasia, renal failure, cardiomyopathy, LARGE PURPLE MACULAR LESIONS
  • CVA
  • skin angiokeratomas
  • AVN of femur
28
Q

Phenylketonuria

A
  • AR
  • deficiency in phenylalanine hydroxylase
  • increased serum phenylalanine, increased urine phenyl pyruvic acid
  • diagnosed in neonates with screening
  • mental retardation, seizures, hyper-reflexia, fair-skinned, blue eyes
  • MUSTY ODOR TO URINE
  • tx - low phenylalanine diet to prevent mental retardation
29
Q

Maple Syrup Urine Disease

A
  • AR
  • defects in the metabolism of branched-chain amino acids
  • hypertonia, seizures, opisthotonos, developmental delay, opthalamoplegia, SWEET-SMELLING ODOR
  • tx -> diet low in branched-chain amino acids (isoleucine, leucine, valine) and thiamine supplementation
30
Q

Homocystinuria

A
  • AR
  • deficiency in cystathionine B-synthase
  • increased serum and urine homocystine and methionine
  • intimal thickening and fibrosis of blood vessels -> multiple strokes, dural sinus thrombosis
  • mental retardation; tall, thin, lens dislocation
  • Tx: B6, B12. decreased methionine, INCREASED CYSTEINE INTAKE
31
Q

Hartnup disease

A
  • defect in transport of neutral amino acids in the small intestine and kidneys
  • mental retardation, ataxia, PHOTOSENSTIVE DERMATITIS (resembles pellagra), renal aminoaciduria
  • Tx: niacin supplements and high protein diet
32
Q

Lesch-Nyhan Syndrome

A
  • X linked recessive
  • deficiency in hypoxanthane-guanine phosphoribosyltransferase
  • increased levels of uric acid 2/2 to increased purine metabolism, and urate deposition can result in nephropathy and gout
  • mental retardation, choreoathetosis, spasticity, self-mutilation and usually die from renal failure in the 2nd or 3rd decade of life
33
Q

Glucose transporter protein syndrome

A
  • deficiency in glucose transporter 1-protein
  • GLUT1 is responsible for the facilitated diffusion of glucose across the BBB
  • decreased CSF glucose levels (hypoglycorrhachia), seizures, developmental delay, microcephaly, ataxia, hypotonia
  • TX = ketogenic diet, thioctic acid allows for seizure control
34
Q

Zellewenger Syndrome

A

AKA cerebrohepatorenal syndrome

  • AR
  • perioxismal disorder that results in abnormalities of very-long chain fatty acids, bile acids, plasmalogen, and phyantic acid metabolism
  • hypotonia, seizures, optic atophy, pigmentary retinopathy, cirrhosis of the liver, chacteristic facies
  • fatal within a few months after birth frin cardiac issues
35
Q

Wilson Disease

A

AKA Hepatolenticular degeneration

  • AR (chromosome 13)
  • deficiency of copper-transporting ATPase in lever and kidneys
  • biliary excretion of copper is decreased and formation of ceruloplasmin is impaired
  • decreased serum ceruloplasmin, increased serum copper, increased urine copper levels
  • cirrhosis, dysarthria, rigidity, chorea, tremor, ataxia, seizures, kayer-flesher rings (copper deposition in Descemet Membrane)
  • MRI -> increased signal in basal ganglia on T1 or T2; caudate and putamen atrophy
  • TX -> penicillamine or ammonium tetrathiomolybdate and zinc
36
Q

Acute intermittent porphyria

A
  • abnormality in heme metabolism
  • autosomal dominant
  • defective porphobilinogen deaminase
  • INCREASED URINARY PORPHOBILINOGEN AND d-ALA; urine turns dark as it oxidizes
  • acute attacks -> abdominal pain, n/v/d, myalgia, seizures, delirium, psychosis, peripheral neuropathy
  • TX -> propranolol, hematin, and diazepam for seizure control
37
Q

what drugs can cause an acute attack of AIP?

A

barbituates, benzos, sulfonomides, hormone therapy, low carb intake

38
Q

Hallervorden-Spatz Disease

A

AKA Panthothenate Kinase Associated Denegeration

  • AR
  • excessive iron deposition in the brain
  • parkinsonism, dystonia, dementia, frozen facial expressions
  • MRI -> decreased signal in GP (eye of the tiger) on T2
  • Definitive dx at autopsy
  • Tx -> phosphopanthothenate
39
Q

Levine-Critchley syndrome

A

AKA Neuroacanthocytosis

  • progressive multisystem neurodegenerative disorder that usually presents in the 4th to 5th decades
  • psychosis, dementia, tics, hyperkinetic movement disoders, peripheral neuropathy and acanthocytes
  • MRI -> severe atrophy of the caudate and putamen
  • autosomal dominant (chromosome 9)
  • death 10-15 years after symptom onset
40
Q

Superficial siderosis

A
  • results from chronic deposition of hemosiderin over the surfaces of the brain and spinal cord
  • sensorineural hearing loss, cerebellar ataxia, myelopathy, dementia, anosmia
  • hypointense rim along the surface of the brain and cerebellum on GRE and T2
  • CSF -> acellular with prescence of xanthochromia
  • tx -> find source of hemorrhage
41
Q

what type of inheritance pattern do mitochondrial disorders have?

A

maternal inheritance

42
Q

MELAS syndrome

A

Mitochondrial, myopathy, encephalopathy, lactic acidosis, and stroke like episodes

  • generalized seizures, migrain headaches, emesis, dementia, strokes that result in hemiparesis, hemianopsia and cortical blindness
  • Red-RAGGED FIBERS on muscle biopsy
43
Q

MERRF Syndrome

A

Myoclonic epilepsy wiht red-ragged fibers

  • myoclonic epilepsy, mental deterioration, and proximal myopathy in children or adults
  • slowly progressive
44
Q

Kearns-Sayre Syndrome

A
  • mitochondrial disorder with triad:
    1. progressive external opthalmoplegia
    2. retinitis pigmentosa
    3. cardiac conduction defects
    4. onset before age 20
  • increased CSF protein levels, increaesd serum pyruvate, spongy brain
  • death by end of second decade usually
45
Q

Lebers hereditary optic neuropathy

A
  • mitochondrial disorder
  • progressive, PAINLESS, central vision loss and cardiac conduction abnormalities usually in the 3rd or 4th decades
46
Q

List mitochondrial disorders

A
  1. MELAS Syndrome
  2. MERRF syndrome
  3. Kearns Sayre Disease (not maternally inherited)
  4. Lebers Hereditary Optic neuropathy
47
Q

Enzyme deficiency thought to cause 20% of ALS

A

Cu/Zn superoxide dismutatase located on chromosome 21q

48
Q

Amyotrophic lateral sclerosis

A
  • affects both upper and lower motor neurons
  • most common motor neuron disease; worst prognosis
  • most cares are sporadic; 20% of familial cases autosomal dominant Cu/Zn superoxide dismutase
  • neuron degeneration occurs primarily in the anterior horns, corticospinal tracts, motor corte and the hypoglossal nucleus
  • symptoms -> weakness, atrophy, fasciculations, spasticity, hyper-reflexia
  • spastic and hyper-reflexic lower extremities, weak and atrophic upper extremities
  • death 3-5 years from respiratory complications
49
Q

What is spared in ALS?

A

Extraocular muscles, SENSATION, sphincter function

50
Q

Kennedy’ Disease

A

AKA spinobulbar muscular atrophy

  • trinucleotide repeat disorder (CAG)
  • mutation -> androgen receptor gene on X chromosome
  • X linked recessive, affects males
  • LOWER MOTOR NEURON DEGENERATION ONLY
  • dysarthria, dysphagia, limb weakness, hypo-reflexia, tongue fasciculations
  • gynecomastia, infertility, PRIMARY SENSORY NEUROPATHIES
  • slower progression
51
Q

Spinomuscular atrophy type 1

A
  • infantile SMA (Werding-Hoffman disease)
  • autosomal recessive, chromosome 5q
  • marked hypotonia (floppy body), proximal muscle weakness
  • death by 4-6 weeks due to respiratory failure
52
Q

spinomuscular atrophy type 2

A
  • chronic infantile SMA
  • begins between age 6 - 15 months
  • AR
  • contractures, scoliosis
  • survive until 2-4 years of age
53
Q

spinomuscular atrophy type 3

A

AKA Kugelberg-Welander Disease

  • AR
  • chronic proximal SMA
  • slowly progressive proximal limb weakness
54
Q

Adult-onset SMA

A
  • autosomal dominant inheritance
  • patient’s survive into 4th to 6th decades
55
Q

Friedreichs Ataxia

A
  • autosomal recessive
  • trinucleotide repeat disorder GAA
  • frataxin gene mutation, chromosome 9q
  • onset: 10-15 years, fatal by 5th to 6th decades
  • Degeneration of the posterior columns, spinocerebellar tracts, corticospinal tracts, Clarke’s nucleus
  • Symptoms -> ataxic gait, dysarthria, areflexia, lower limb weakness, loss of vibratory sense and proprioception
  • cardiomyopathy; can lead to cerebellar and cortical ischemic changes
  • peripheral neuropathy
  • hammertoes, kyphoscoliosis, pes cavus
  • no treatment
56
Q

Ataxia-telangiectasia

A
  • AR; most common cause of progressive ataxia in infancy
  • mutation of large gene (ATM) on chromosome 11 that is involved in DNA repair and control of the cell cycle
  • extremely sensitive to radiation, therefore cant have CT’s
  • ataxia, dysarthria, chorea, cranial nerve palsies, diffuse motor and sensory loss
  • immunodeficient 2/2 to atrophy of thymus and have INCREASED RISKS OF DEVELOPING INFECTIONS AND LYMPHOMA
  • prominent telangiectasias of the sclera and skin
  • pulmonary fistula are common; can lead to development of pulmonary infections and abscesses
57
Q

What type of fistulas do patients with ataxia-telangiectasia develop?

A
  • pulmonary fistulas
  • can lead to pulmonary infections and abscesses
58
Q

Dentatorubropallidosylvian atrophy

A
  • autosomal dominant
  • trinucleotide repeat, chromosome 12q
  • neuronal degeneration in occurs primarily in the dentate nucleus, subthalamic nucleus, red nucleus, and external segment of globus pallidus
  • symptoms -> dystonia, ataxia and choreathetosis
59
Q

Machado-Joseph disease

A
  • autosomal dominant; trinucleotide repeat disorder CAG (chromosome 14)
  • symptoms -> progressive ataxia, ophthalmoplegia, distal motor weakness, hyper-reflexia, mild parkinsonism, bulbar symptoms
  • atrophy -> dentate nucleus, spinocerebellar tracts, oculomotor nuclei, anterior horns, pontine nuclei, substantia nigra
  • cerebello-olivary system relatively spared
  • no effective therapy
60
Q

acute disseminated encephalomyelitis

A
  • post-infectious encephalomyelitis
  • demyelinating disease that usually follows a viral infection (especially measles) by 4-6 days or vaccination (especially rabies) by 1-2 weeks
  • also associated with EBV, CMV, mycoplasma
  • monophasic autoimmune attack by T cells against myelin basic protein; perivenular infllamation and demyelination
  • symptoms -> fever, headache, nuchal rigidity -> followed by multiple neurological deficits
  • most patients recover; 10-20% are left with permanent deficits
61
Q

treatment for ADEM

A

steroids, AEDs, mannitol for cerebral edema

62
Q

Progressive multifocal leukoencephalopathy

A
  • subacute demyelinating disease that results from reactivation of JC virus (papovavirus) in immunocompromised patients
  • infects oligodendrocytes
  • mutlifocal areas of demyelination predominately in the subcortical white matter
  • affects 4% of patients with AIDS
  • lesions are often in parieto-occipital region, non-enhancing, and have increased signal on T2 and FLAIR; INVOLVES SUBCORTICAL U FIBERS
  • symptoms depend on location -> hemiparesis, VF cuts, sensory changes, eventually dementia
  • Dx -> biopsy or PCR amplification of JC virus RNA in CSF
  • poor prognosis, aproximally 80% die within 9 months
63
Q

Marchiafava-Bignami Disease

A
  • results in demyelination of the corpus callosum
  • initially described in Italian men who consumed large quanities of cheap red wine, but cause unknown
  • necrosis of the medial aspect of the corpus callosum
  • results in nonspecific symptoms -> memory loss, confusion, depression, dementia, mutlifocal neurologic signs
  • slowly progressive, usually results in death within 3-6 years after symptom onset
64
Q
A

Neurosurgery Flash Cards (4 decks)

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