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Neurosurgery Boards > Neurology-Metabolic Disorders > Flashcards

Neurology-Metabolic Disorders Flashcards

1
Q

What are sphingolipidoses?

A

Progressive conditions that involve defective neuronal lipid metabolism. Ex:Tay-Sachs, Gaucher, Niemann-Pick, Fabry, Krabbe, Metachromatic leukodystrophy

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2
Q

What is the inheritance pattern and deficient enzyme of Tay-Sachs disease?

A

aka infantile GM2 Gangliosidosis. AR (more common in Ashkenazi Jews). Hexosaminidase A.

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3
Q

What builds up in Tay-Sachs disease and what is the presentation?

A

Neuronal gangliosides. 4-6 months old with hyperreflixa, seizures, hypotonia, blindness, macular cherry-red spots

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4
Q

What metabolic conditions have macular cherry-red spots?

A

Niemann-Pick, Gaucher and Tay-Sachs

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5
Q

What enzyme is deficient in Sandhoff?

A

Hexosaminidase A & B. Similar presentation to Tay-Sachs.

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6
Q

What is the inheritance pattern and deficiency in Gaucher’s disease?

A

AR. Glucocerebrosidase.

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7
Q

What are the three main forms of presentation of Gaucher’s?

A

Infantile- seizures, cherry-red spots, hepatosplenomegaly, early death.
Chronic non-neuronopathic- juvenile increase visceral storage
Juvenile neuronopathic- epilepsy, IQ decline, spasticity, hypersplenism around 5yo

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8
Q

Niemann-Pick inheritance and enzyme

A

AR. Sphingomyelinase

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9
Q

What is the presentation of Niemann-Pick?

A

hypotonia, cherry-red spots, MR, hepatosplenomegaly. Death by 4-5yo

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10
Q

What is the inheritance of Fabry disease and which enzyme is affected?

A

X-linked. Beta-Galactosidase

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11
Q

What is the presentation of Fabry disease?

A

extremity pain and paresthesias, telangiectasias, renal failure, cardiomyopathy, large purple macular skin lesions

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12
Q

What is the enzyme and inheritance pattern of Metachromatic leukodystrophy?

A

AR. Arylsulfatase A (lysosomal)

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13
Q

What accumalates in metachromatic leukodystrophy and what is the presentation?

A

Sulfatide.
Late infantile type- flaccid paralysis, dementia, slow nerve conduction velocities, optic atrophy, and death by 10
Juvenile- similar but slower progression
Adult- 4th decade with progressive dementia

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14
Q

What is the Krabbe disease?

A

A globoid cell leukodystrophy from deficient galactocerebrosidase. AR. Accumulates psychosine which is toxic to oligodendrocytes.

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15
Q

What is the presentation of Krabbe disease?

A

3-6mo. Hypertonic and Hyperreflexic with pregression to flaccid paralysis and death by 2-3yo.

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16
Q

What is the presentation of Alexander’s disease and what is the characteristic pathological finding?

A

Presents in 1st year of life: macrocephaly, spasticity, seizures, loss of milestones. Rosenthal fibers (start frontally)

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17
Q

What enzyme is deficient in Canavan’s disease? What is the inheritance pattern and what accumulates?

A

Aspartoacylase (amino-acidopathy). AR (Ashkenazi). N-acetylaspartate (seen on MR spect)

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18
Q

What is the presentation of Canavan’s disease?

A

2-4mo. hypotonia, optic atrophy and macrocephaly.

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19
Q

What does Canavan’s disease involve?

A

Subcortical U fibers (unlike most leukodystrophies).

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20
Q

What is Pelizaeus-Merzbacher disease and how is it inherited?

A

Deficient myelin proteolipid protein. X-linked recessive.

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21
Q

What is the presentation of Pelizaeus-Merzbacher?

A

Infancy: Spasticity, ataxia, optic atrophy, seizures, rotary nystagmus, delayed development. Survive into 30s

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22
Q

What is the inheritance pattern of Adrenoleukodystrophy? What is defective?

A

X-linked. Defective peroxisomal very long-chain fatty acid B-oxidation (lignoceroyl coenzyme A)

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23
Q

What is the presentation and skin appearance of Adrenoleukodystrophy?

A

5-8yo: Bronze skin, dementia, behavioral changes, optic atrophy, neuropathy

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24
Q

Which mucopolysaccharidoses is X-linked?

A

Hunter

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25
Q

Hurler Syndrome. Inheritance and enzyme?

A

AR. a-L-iduronidase. aka Mucopolysaccharidoses I (MPS I)

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26
Q

What is the presentation of Hurler?

A

Corneal clouding, MR, coarse facial features, cardiac disease. Fatal by 10.

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27
Q

Lab test for Hurler?

A

Increased urinary excretion of dermatan and heparan sulfate

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28
Q

Scheie syndrome. Inheritance and enzyme?

A

AR mild variant of Hurler. a-L-iduronidase.

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29
Q

What is the presentation of Scheie?

A

Mild version of Hurler. No MR and live long unless cardiac issues. Occassionally will have spinal cord compression or corneal clouding

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30
Q

Hunter’s syndrome. Inheritance and enzyme?

A

MPS II. X-linked recessive. iduronate-2-sulfatase

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31
Q

What is the presentation of Hunter’s.

A

Pebbled skin over the scapulae. Dwarf, hepatosplenomegaly, deaf, hydrocephalus (no corneal clouding). Slower progression than Hurler

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32
Q

Lab test for Hunter’s?

A

increased urinary excretion of dermatan sulfate

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33
Q

Sanfilippo syndrome. Inheritance and enzyme?

A

MPS III. AR. 4 different enzyme mutations involved with metabolism of heparan sulfate

34
Q

What are the symptoms of Sanfilippo?

A

MR, ataxia, hirsutism, seizures, progressive quadriparesis. Affects juveniles and they live until 2nd decade

35
Q

Morquio syndrome. Inheritance and enzyme?

A

AR. B-galactosidase (mild form) or galactose-6-sulfatase (severe form)

36
Q

What is the presentation of Morquio?

A

AO subluxation leading to cervical SCI. dwarfism, joint laxity, deafness, cardiac and pulmonary disease

37
Q

Increased urinary excretion of ________ is seen with Morquio syndrome?

A

keratan sulfate

38
Q

What is the inheritance pattern of glycogen storage disease?

A

AR (except IX and a subtype of VIII X-linked)

39
Q

What is the enzyme and presentation of Von Gierke’s disease?

A

(Type I glycogenosis) Glucose-6-phosphatase. Hepatomegaly and hypoglycemia

40
Q

What is the enzyme and presentation of Pompe’s disease?

A

(Type II) Acid maltase (a-glucosidase).
Infantile- hypotonia, macroglossia, cardiomegaly (death by 2)
Juvenile/Adult- myopathy

41
Q

What is the enzyme and presentation of Cori’s disease?

A

Type III. amylo-1,6-glucosidase (debranching enzyme). Hepatomegaly, seizures, growth retardation

42
Q

What is the enzyme and presentation of McArdle’s disease?

A

Type V. Myophosphorylase. Muscle Cramps and myoglobinuria

43
Q

What is the enzyme and presentation of Tauri’s disease?

A

Type VII. Phosphofructokinase. Early fatigue with exercise

44
Q

What is the inheritance pattern of mitochondrial disorders?

A

Maternal inheritance

45
Q

What is MELAS?

A

A mitochondrial disorder: generalized seizures, migraines, strokes

46
Q

What is associated with ragged-red fibers?

A

MELAS and MERRF (myoclonic epilepsy with ragged-red fibers)

47
Q

What is the triad of Kearns-Sayre syndrome?

A

Progressive ophthalmoplegia, pigmentary retinopathy, onset before 20. Deletion of mtDNA with cardiomyopathy and conduction defects

48
Q

What is Leber’s hereditary optic neuropathy?

A

Mitochondrial disorder with progressive, painless central visual loss and cardiac conduction abnormality in the 3-4 decade

49
Q

What are the amino acidopathies?

A

PKU, Maple syrup urine disease, Homocystinuria, hartnup. All autosomal recessive.

50
Q

What is the enzyme and presentation of PKU?

A

Phenylalanine hydroxylase. MR, seizures, hyperreflexia, abnormal skin/hair pigmentation.

51
Q

What is the enzyme and presentation of Maple Syrup Urine disease?

A

Defect in branched chain aa metabolism. Hypertonia, seizures, opisthotonos, sweet smelling urine

52
Q

What is the enzyme and presentation of Homocystinuria?

A

Cystathionine B-synthase. Intimal thickening and fibrosis of blood vessels leading to stroke and dural sinus thrombosis. Seizures, ectopia lentis (malpositioned eye lense), glaucoma, Marfanoid

53
Q

What accumulates in homocystinuria

A

Methionine and homocystine

54
Q

What do you supplement in Homocystinuria?

A

Cysteine

55
Q

What do you supplement in MSUD?

A

Thiamine

56
Q

What do you avoid in MSUD?

A

Leucine, isoleucine, valine

57
Q

What do you avoid in Homocystinuria?

A

Methionine

58
Q

What is the defect and presentation of Hartnup disease?

A

defect in transport of neutral a.a. MR, Ataxia, photosensitive dermatitis, nystagmus, renal aminoaciduria.

59
Q

What do you supplement Hartnup? Does it get better with age?

A

Niacin supplement (like pellagra) and a high protein diet. Gets better with age.

60
Q

Lesch-Nyhan syndrome

A

X-linked disorder of purine metabolism with increased levels of uric acid

61
Q

What is defective in Lesch-Nyhan syndrome

A

Hypoxanthine-guanine phosphoribosyltransferase (HPRT)

62
Q

What is the presentation in Lesch-Nyhan

A

Self mutilation, choreoathetosis, MR, death from renal failure

63
Q

What is the deficiency and presentation of Glucose transporter protein syndrome (GTPS)?

A

GLUT-1 (moves Glu across BBB). Decreased CSF glu (hypoglycorrhachia).
Seizures, MR, microcephaly, ataxia.

64
Q

How do you treat GTPS?

A

Ketogenic diet

65
Q

What is Zellweger syndrome?

A

AR peroxisomal disorder with abnormalities in very-long-chain fatty acids.
Present with hypotonia, seizures, pigmentary retinopathy, characteristic face.

66
Q

Wilson’s disease. What chromosome and what is impaired

A

Hepatolenticular degeneration. AR Chr 13. Formation of Ceruloplasmin is impaired (decreased serum ceruloplasmin) and biliary excretion of copper is decreased.

67
Q

What is the presentation of Wilson’s disease?

A

Increased serum copper, cirrhosis, Kayser-Fleischer rings, seizures, ataxia, tremor

68
Q

What is the MRI and pathologic appearance of Wilson’s disease

A

T-1- hyperintense BG and abundant Alzheimer Type II astrocytes

69
Q

What is the treatment of Wilson’s disease?

A

Penicillamine or ammonium tetrathiomolybdate and zinc

70
Q

Acute intermittent porphyria (AIP)

A

abnormal metabolism of heme and increased urinary excretion of d-aminoevulinic acid. Presents with severe abdominal pain, psychosis, and peripheral neuropathy (similar to lead poisoning)

71
Q

What is the treatment and what exacerbates AIP?

A

Treatment: Propranolol, hematin, diazepam (for seizures)
Preciptates: barbiturates

72
Q

What is Hallervorden-Spatz disease?

A

AR with motor abnormalities: hyperreflexia, dystonia, ataxia, stiff arms/legs and a frozen face

73
Q

What is the imaging feature of Hallervorden-Spatz?

A

T2 MRI hypointense GP (“eye of the tiger”)

74
Q

What is neuroacanthocytosis?

A

Levine-Critchley syndrome. Progressive multisystem neurodegenerative d/o. AD Chr 9

75
Q

What is the presentation of neuroacanthocytosis?

A

Psychiatric, dementia, hyperkinesis, acanthocytes

76
Q

What are the neuroimaging features of neuroacanthocytosis?

A

Severe atrophy of the Striatum

77
Q

What is superficial siderosis?

A

Chronic deposition of hemosiderin over the surface of the brain and SC. Secondary to chronic CNS hemorrhages

78
Q

What is the presentation of superficial siderosis?

A

Hearing loss, ataxia, myelopathy, anosmia, dementia

79
Q

What is Laurence-Moon-Biedl syndrome?

A

AR: Impaired night vision (retinitis pigmentosa), obesity, MR, hypertension

80
Q

What does a defect in phytanic acid metabolism cause?

A

Refsum disease (an AR hypertrophic sensorimotor neuropathy). Progressive night blindness, hearing loss, ataxia, pes cavus, ichthyosis, cardiac conduction abnormalities

81
Q

What enzyme is defective in Refsum’s disease?

A

Phytanoyl-coenzyme A hydroxylase

Neurosurgery Boards (10 decks)

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