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Neurology Board Review > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

1
Q

Rett Syndrome

A

MECP-2
Females
Regression, severe intellectual disability
Arrested head growth
Central apnea and hyperventilation
Intractable epilepsy
Arrhythmias

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2
Q

Fragile X

A

Most common cause of intellectual disability
>5% of ASD in males
X linked triplet repeat (CGG)
>200 repeats on FMR1 Gene
Famhx of females with ovarian insufficiency
Male >50 yo w/ tremor
Can have progressive cerebellar ataxia

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3
Q

CGG repeat

A

Fragile X

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4
Q

CTG repeat

A

Myotonic dystrophy

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5
Q

CAG repeat

A

Kennedy’s disease (androgen receptor antibody)
SCA
Huntington’s disease
Dentatorubral-pallidouysian (DRPLA)

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6
Q

GCG repeat

A

Oculopharyngeal muscular dystrophy

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7
Q

15q11.2q.13.1 imprinting, deletion or uniparental disomy

A

Prader Willi
Angelman

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8
Q

15q11.2q.13.1 paternal copy absent

A

Prader Willi

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9
Q

15q11.2q.13.1 maternal copy absent

A

Angelman

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10
Q

Prader Willi Phenotype

A

Hypotonia and FTT in infancy
Rapid weight gain between 1-6 yo
Hyperphagia
Developmental delay
Hypogonadism
Small stature and small hands, almond shaped
Behavioral issues

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11
Q

Angelman Phenotype

A

Developmental delay
Severe ID
Seizure w/ 2-3 Hz high amplitude slow wave on EEG
Ataxia
Inappropriate happy demeanor (happy puppet)
Wide spaced teeth/prognathism

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12
Q

UBE3A gene

A

Angelman

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13
Q

Chromosome 5p deletion

A

Cru-di-chat syndrome

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14
Q

Cru-di-chat syndrome phenotype

A

Microcephaly, micrognathia, small hands
Severe ID, delays, poor feeding, drooling (laryngeal issues)

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15
Q

DiGeorge/Velocardiofacial chromosome

A

22q11.2 deletion

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16
Q

Symptoms of DiGeorge;

A

Cono-truncal malformation
Palatal abnormalities and velopharyngeal incompetence (VPI)
Immune deficiencies
Hypocalcemia
Learning disabilities, speech delay, seizures, hearing loss, behavioral disturbances

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17
Q

CATCH 22 of DiGeorge

A

Cardiac Abnormality, T-cell defect, Clefting, Hypocalcemia

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18
Q

Chromosomal abnormality for Williams Syndrome?

A

Chromosome 7q, includes gene encoding Elastin → connective tissue

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19
Q

Symptoms of Williams Symptoms:

A

Hypotonia, hyperflexible joints
Hypercalcemia
Cardiac: supravalvular aortic stenosis

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20
Q

X-linked dominant disorders:

A

Rett syndrome
Aicardi Syndrome
X-linked lissencephaly
Periventricular nodular heterotopia due to FIL-1 gene mutation

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21
Q

Fabry’s disease genetics and enzyme deficiency:

A

X-linked recessive
Deficiency of alpha galactosidase A

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22
Q

What are the symptoms of Fabry’s disease?

A

Recurrent attacks of burning pain in distal extremities (acroparesthesias) exacerbated with heat, fever and exercise
Autonomic instability
Cardiomyopathy, stroke, aneurysm, corneal deposits
Angiokeratomas

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23
Q

Farber’s enzyme deficiency:

A

Ceramidase

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24
Q

Sandhoff enzyme deficiency:

A

Hexosaminidase A and B

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24
Q

Niemann-Pick enzyme deficiency:

A

Sphingomyelinase

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24
Q

Gaucher enzyme deficiency:

A

Beta glucosidase

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25
Q

Krabbe enzyme deficiency:

A

Galactosylceramide beta galactosidase = galactocerebrosidase
Globoid cell (PAS +ve) in white matter

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26
Q

Metachromatic leukodystrophy enzyme deficiency:

A

Arylsulfatase A

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27
Q

Tay Sachs enzyme deficiency:

A

Hexosaminidase A

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28
Q

Characteristics of Faber’s disease:

A

Arthropathy and subcutaneous nodules
Cherry red spot

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29
Q

Diseases that will have Ashkenazi jews mentioned in the vignette;

A

Gaucher
Nieman Pick
Tay Sachs

30
Q

Characteristics of Gaucher’s disease?

A

Gaucher cells→ histiocytes with lipids (PAS +ve)
Spasticity, seizures, rigidity, Hepatosplenomegaly

31
Q

Gauchers type __ will generally die before age 2.

A

2

32
Q

Characteristics of Gaucher’s disease?

A

Foamy histiocytes, jaundice and hepatomegaly

33
Q

Tay Sachs Disease characteristics?

A

No visceral (foamy neurons)
Increased startle response
Death at 5 years

34
Q

Sandhoff disease characteristics?

A

Mild hepatosplenomegaly
Pan-ethnic
Death at 3 years
Coarse granulation in histiocytes (sand)

35
Q

What diseases present with a cherry red spot?

A

Farber
Sialidosis
GM1 gangliosidosis
Sandhoff
Tay-Sachs
Niemann Pick A

36
Q

Krabbe disease, also known as ___

A

Globoid cell leukodystrophy

37
Q

What are the symptoms of Krabbe disease?

A

Regression, blindness, hypotonia and deafness
Progressive demyelinating peripheral neuropathy → lost reflexes+Babinski

38
Q

MRI findings of Krabbe disease:

A

FLAIR hyperintensity in basal ganglia, thalami, corona radiata, brainstem and cerebellum

39
Q

What are the symptoms of cerebral folate deficiency?

A

Irritability, loss of vision, spasticity and hearing

Reduced 5-methyltetrahydrofolate. Treatable with folinic acid

40
Q

If there is an arylsulfatase A deficiency, what does this cause?

A

Myelin breakdown

41
Q

What are the types of Mucopolysaccharidosis?
(6 total, skip V)

A

I. Hurler
II. Hunter
III. Sanfilippo
IV. Morquio
VI. Maroteaux-Lamy
VII. Sly

42
Q

Deficiency in Hurlers?

A

Alpha iduronidase

43
Q

Deficiency in Hunters?

A

Iduronate sulfatase

44
Q

Deficiency in Sanfilippo?

A

Heparan sulfate

45
Q

Deficiency in Morquio?

A

Galactose-6-sulfatase (Keratan sulfate)

46
Q

Deficiency in Maroteaux-Lamy?

A

N-acetylgalactosamine, arylsulfatase B (Dermatan sulfate)

47
Q

Deficiency in Sly?

A

Hyaluronidase

48
Q

All of the mucopolysaccharidosis are autosomal recessive except ____.

A

Hunter (which is also the only one without corneal clouding)

49
Q

What are common features of mucopolysaccharidosis?

A

Coarse features and skeletal abnormalities (dysostosis multiplex)
Hepatomegaly, OSA, hearing loss
Zebra bodies in the lysosomes

50
Q

Treatment for mucopolysaccharidosis:

A

Bone marrow transplant and enzyme replacement

51
Q

Aminoacidopathies: Branched amino acids

A

Maple Syrup Urine Disease

52
Q

Aminoacidopathies: Neutral amino acids

A

Hartnup disease (Niacin)

53
Q

Aminoacidopathies: Sulfated amino acids

A

Molybdenum cofactor deficiency
Lens dislocation

54
Q

Aminoacidopathies: Methionine metabolism

A

Homocystinuria

55
Q

Aminoacidopathies: Glycine metabolism

A

Glycine encephalopathy (nonketotic hyperglycinemia)

56
Q

Aminoacidopathies: Phenylalanine

A

Phenylketonuria

57
Q

McArdle disease

A

Glycogen storage disease IV

58
Q

Carnitine palmitoyl transferase deficiency I

A

Fatty acid oxidation defect

59
Q

What are the periodic paralysis?

A

Hypokalemia
Hyperkalemia
Andersen Tawil syndrome

60
Q

Metabolic diseases with macrocephaly

A

Glutaric aciduria type I
Tay Sachs disease
Alexander disease
Canavan disease

61
Q

Metabolic diseases with skin rash

A

Abetalipoproteinemia
PKU
Biotinidase
Hartnup disease
Refsum disease
Fabry’s

62
Q

Inheritance and genetics of Wilson’s disease:

A

Autosomal recessive (ATP7B)

63
Q

Pathogenesis of Wilson’s disease:

A

Copper transportation defect from hepatocyte to bile

64
Q

Symptoms of Wilson’s disease:

A

Liver failure
Psychiatric symptoms
Wing beating tremors
Kayser Fleischer rings
Sunflower cataract

65
Q

MRI findings of Wilson’s disease:

A

Increased signal in superior colliculi, medial substantia nigra and tegmentum
Panda sign

66
Q

What test can you do for Wilson’s disease and what would those show?

A

Copper -> decreased
Ceruloplasmin -> decreased
24 hr copper excretion -> increased

67
Q

Treatment for Wilson’s disease:

A

Chelation

68
Q

What is the pathogenesis of Menkes? And genetics?

A

Failure to absorb copper from GI
Copper transporting ATPase (ATP7A)

69
Q

How does Menkes present?

A

Stimulation myoclonus, hypotonia, regression, poor feeding
Kinky hair, vasculopathy
Can look like child abuse

70
Q

What test can you do for Menkes disease and what would those show?

A

Copper -> decreased
Ceruloplasmin -> decreased
24 hr copper excretion -> decreased

71
Q

Treatment for Menkes:

A

Copper supplementation

72
Q

What happens in Pantothenate Kinase-Associated Neurodegeneration (PKAN)?

A

Brain iron accumulation
Rigidity and movement disorders
Retinopathy
Globus pallidus increased signal (eye of the tiger)

73
Q

What is the mutation found in PKAN?

A

Mutation of pantothenate kinase gene (PANK2)

Neurology Board Review (16 decks)

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