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Adams Principles of Neurology > Metabolic & Nutritional > Flashcards

Metabolic & Nutritional Flashcards

1
Q

T/F: The neonate’s nervous system functions essentially at a brainstem-spinal level.

A

True

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2
Q

This is the first indication of disordered nervous system function.

A

Seizures

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3
Q

T/F: It is important to note that the three most frequently identified hereditary metabolic diseases-PKU, hyperphenylalaninemia and congenital hypothyroidism-become clinically manifest in the neonatal period.

A

False (do not become clinically manifest)

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4
Q

Mutation of the Pyridoxine-dependent seizures

A

ALDH7A1 gene

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5
Q

T/F: Patients with increased concentrations of serum phenylalanine in the neonatal period usually have a defect in biopterin metabolism.

A

True

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6
Q

Marked restriction of this dietary protein may prevent attacks of ketoacidosis.

A

Leucine

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7
Q

Characterized with sweaty foot syndrome

A

Isovaleric acidemia

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8
Q

Among the six diseases caused by inborn deficiencies of the enzymes of the Krebs-Henseleit urea cycle, which is X-linked dominant?

A

Ornithine transcarbamylase (OTC) deficiency

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9
Q

The hallmark of all the hereditary metabolic diseases

A

Psyvhosensorimotor regression

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10
Q

Deficiency of bothhexosaminidase A&B which affects infants of non-Jewish origins

A

Sandhoff disease

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11
Q

Rare autosomal disorder based on a mutation in ASAH1

A

Lipogranulomatosis

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12
Q

A distinctive disease with GFAP mutation giving rise to Rosenthal fiber inclusions.

A

Alexander disease

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13
Q

Characterized with acidosis with an anion gap and high serum lactate levels and hyperalaninemia

A

Congenital Lactic Acidosis

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14
Q

Disease which demonstrates a five-fold increase of very long chain fatty acids particularly hexacosanoic acid

A

Cerebrohepatorenal (zellweger) disease

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15
Q

The most common form of zellweger syndrome is due to what mutation?

A

Mutation in PEX1

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16
Q

The abnormal gene is located on chromosome Xq25.26 characterized with bilateral cataracts.

A

Oculocerebrorenal (Lowe) syndrome

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17
Q

A rare disorder which may show a combination of intracerebral hemorrhage and metaphysial bone spurs

A

Menkes disease

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18
Q

T/F: Indicative of predominantly white matter affection (leukodystrophy) are early onset of spastic paralysis of the limbs with or without ataxia, and visual impairment with optic atrophy but normal retina.

A

True

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19
Q

T/F: indicative of gray matter disease (poliodystrophy) are the early onset seizures, myoclonus, blindness with retinal changes snd mental regression.

A

True

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20
Q

What proportion of patients with PKU are slightly microcephalic?

A

2/3

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21
Q

The Guthrie test will yield what cold in patients with PKU?

A

Emerald-green

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22
Q

The most severe form of this disease is caused by a mutation in the gene that codes for fumarylacetoacetate hydrolase

A

Hereditary tyrosinemia

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23
Q

The clinical features consist of an intermittent red, scaly rash over the face, neck, hands and legs resembling that of pellagra

A

Hartnup disease

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24
Q

The abnormality is the mutation of the gene for arylsulfatase A which prevents the conversion of sulfatide to cerebroside.

A

Metachromatic Leukodystrophy

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25
Q

The primary mutation in the infantile form is in the PLA2G6 gene

A

Neuroaxonal dystrophy

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26
Q

The first sign of juvenile GM1 gangliosidosis

A

Difficulty in walking

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27
Q

What is the fundamental defect of adrenoleukodystrophy?

A

Impairment in peroxisomal oxidation of very long chain fatty acids (VLCFAs)

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28
Q

Hexosaminidase is the deficient enzyme in which IEM disease?

A

Tay-Sachs

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29
Q

T/F: diseases with a dominant mode of inheritance tend to be less severe and less rapidly progressive.

A

True

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30
Q

Treatment in infantile opsoclonus-myoclonus syndrome

A

Dexamethasone

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31
Q

The salient clinical features of the later-onset types are severe myoclonus, seizures and visual loss.

A

Juvenile Ceroid Lipofuscinosis (cerebroretinal degeneration; batten disease)

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32
Q

This is a genetically distinct class of disease characterized by the storage in nervous tissue of sialylated glycopeptides caused by neuraminidase deficiency

A

Cherry-Red Spot-Myoclonus Syndrome

33
Q

Vacuolated cells in the bone marrow seen in Infantile Niemann-Pick Disease

A

Foam cells

34
Q

T/F: A notable feature of Wilson disease is the tendency for the motor disorders to be concentrated in the bulbar musculature.

A

True

35
Q

How many percent of patients with wilson disease in the purely hepatic stage present with kayser-fleischer rings?

A

25%

36
Q

Part of the basal ganglia most frequently involved in wilson disease

A

Putamen

37
Q

Essentially, it is a hereditary choreoathetosis with self mutilation and hyperuricemia

A

Lesch-Nyhan Syndrome

38
Q

This is an idiopathic form of calcification of the basal ganglia and cerebellum in which choreoathetosis and rigidity are prominent acquired features

A

Fahr Disease

39
Q

Main differential diagnosis in adrenoleukodystrophy

A

Multiple sclerosis

40
Q

Aminoaciduria is inherited as an autosomal recessive trait which simulates Marfan disease.

A

Homocystinuria

41
Q

This disease is also known as anhiokeratoma corporis diffusum

A

Fabry disease

42
Q

The primary deficit is in the enzyme alpha-galactosidase A

A

Fabry Disease

43
Q

T/F: A useful principle in recognizing those adolescents with a metabolic brain disease is that sooner or later, such a condition will cause a regression in cognitive and intellectual functions.

A

True

44
Q

T/F: The combination of progressive ptosis and symmetrical ophthalmoplegia is a common manifestation of mitochondrial disease.

A

True

45
Q

Normal serum osmolality

A

270-290 mOsm/L

46
Q

In total cerebral ischemia, the tissue is depleted of its sources of energy in about how many minutes?

A

5 minutes

47
Q

The most common early imaging change in cases of severe anoxic encephalopathy

A

Loss of the distinction

48
Q

Represents the most severe degree of hypoxia

A

Brain death syndrome

49
Q

Initial treatment for carbon monoxide exposure

A

Inspired oxygen

50
Q

The glucose reserve may sustain cerebral activity for how many minutes once blood glucose is no longer available?

A

30 minutes

51
Q

Mainstay of treatment in hepatic encephalopathy

A

Oral lactulose

52
Q

T/F: in patients with fulminant hepatic failure, the degree of cerebral swelling is not proportional to the severity of encephalopathy.

A

False (directly proportional)

53
Q

Convulsions occur in what proportion of patients with uremic encephalopathy?

A

1/3

54
Q

Attributed to the rapid lowering of serum urea leaving the brain with a higher concentration of urea than serum and resulting in a shift of water into the brain to equalize the osmotic gradient.

A

Dialysis disequilibrium syndrome

55
Q

The MRI discloses a characteristic “batwing” lesion of the pons

A

Central pontine myelinolysis

56
Q

T/F: muscle cells rich in oxidative enzymes (type 1 fibers) contain more mitochondria and larger amounts of myoglobin with slower rates of contraction and relaxation.

A

True

57
Q

Results from the deficiency of thiamine characterized with nystagmus, abducens and conjugate gaze palsies, gait ataxia and mental confusion.

A

Wernicke disease

58
Q

T/F: The triad of the Wernicke-Korsakoff disease is present in only 16% of patients.

A

True

59
Q

The impaired olfactory discrimination seen in Korsakoff amnesic state is attributable to a lesion in what area?

A

Mediodorsal nucleus of the thalamus

60
Q

Given as a cofactor for thiamine activity

A

Magnesium

61
Q

Presents with the triad of dementia-dermatitis-diarrhea

A

Pellagra (Niacin deficiency)

62
Q

One milligram of nicotinic acid is formed from how many mg of tryptophan?

A

60

63
Q

Isoniazid causes marked excretion of this vitamin

A

Pyridoxine (Vitamin B6)

64
Q

Amino acid disorder characterized by an abnormally high excretion of nonhydroxylated indole metabolites and impaired intestinal transport of tryptophan.

A

Hartnup disease

65
Q

Most commonly used illicit drug

A

Cannabis

66
Q

More severe form of mercury poisoning

A

Organic mercury poisoning

67
Q

Anesthetic which may cause dissociative anesthesia

A

Ketamine

68
Q

Average blood alcohol concentration in fatal cases

A

Above 400 mg/dl

69
Q

Motor neuropathy associated with inorganic lead commonly involves what nerve?

A

Radial nerve

70
Q

Syndrome of periodic paralysis, cardiac arrhythmias, dysmorphic features

A

Andersen’s syndrome

71
Q

Methotrexate toxicity is commonly encountered when administered by this route

A

Intrathecally

72
Q

Most frequent side effect of cyclosporine

A

Tremor

73
Q

Benign Intracranial Hypertension can result from what Vitamin excess

A

Vitamin A

74
Q

Most common cause of induced nystagmus

A

Drug intoxication

75
Q

Excessive doses of what vitamin produce a disabling predominantly sensory ganglionopathy

A

Pyridoxine

76
Q

T/F: In CPM, there is always a rim of intact myelin between the lesion and the surface of the pons

A

True

77
Q

The most common single manifestation of the abstinence syndrome

A

Tremulousness

78
Q

A family of closely related synaptic vesicle which is identified as the major calcium sensor that trigger fusion

A

Synaptotagmins

Adams Principles of Neurology (19 decks)

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