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Neurology - Physiology > INHERITED METABOLIC DISEASES 2 > Flashcards

INHERITED METABOLIC DISEASES 2 Flashcards

1
Q

This uncommon disease of the neonatal period or early
infancy has many biochemical etiologies. The symptoms
have consisted of psychomotor regression and episodic
hyperventilation, hypotonia, and convulsions, with intervening periods of normalcy

A

Congenital Lactic Acidosis

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2
Q

Pathology of Congenital Lactic Acidosis

necrosis and cavitation of the _______ and ______

A

globus pallidus

and cerebral white matter.

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3
Q

Congenital Lactic Acidosis is a variant of what disease?

A

Possibly this is a variant of

Leigh disease.

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4
Q

It has
its onset in the neonatal period or early infancy and as a
rule leads to death within a few months. Motor inactivity
and hypotonia, dysmorphic alterations of the skull and
face. What is this?

A

Cerebro h epatorenal (Zel lweger) Disease

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5
Q

What is characteristic of Cerebro h epatorenal (Zel lweger) Disease

A

Stippled, irregular calcifications of

the patellae and greater trochanters are highly characteristic .

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6
Q

In Zelweger dse:

Pathologically, there is ________of the cerebral cortex
and _______ of white matter as well as a number
of visceral abnormalities-cortical renal cysts, hepatic
fibrosis, intrahepatic biliary dysgenesis, agenesis of
the thymus, and iron storage in the reticuloendothelial
system.

A

dysgenesis

degeneration

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7
Q

As to the biochemical abnormality, Moser and
coworkers (1984) demonstrated a fivefold increase of
very-long-chain fatty acids, particularly__________, in the plasma and cultured skin fibroblasts from 35
patients with Zellweger disease.

A

hexacosanoic

acid

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8
Q

current notions about the basic abnormality in Zellweger syndrome, namely, that it is caused by a lack of _________ (oxidase-containing, membrane-bound cytoplasmic organelles), in which the very-long-chain fatty acids are normally oxidized

A

liver peroxisomes

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9
Q

The most common form of Zellweger syndrome
is due to a mutation in ______ . However, the most
widely recognized peroxisomal disorders are _________ and ______, but the Zellweger
cerebrohepatorenal syndrome can be considered a prototype.

A

PEX1

adrenoleukodystrophy

Refsum disease

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10
Q

(OCRL 1 M utati o n )

X-linked recessive,

The abnormal gene is located on chromosome Xq25.26.

A

The Ocu locerebrore n a l ( Lowe) Synd rome

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11
Q

Sx of The Ocu locerebrore n a l ( Lowe) Synd rome:

Cause of death is from:

A

Renal failure from RTA

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12
Q

In Lowe syndrome:

The primary genetic defects are in the gene encoding ________ of the Golgi complex.

A

inositol

polyphosphate phosphatase

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13
Q

sex-linked recessive trait.

The hair is normal at birth but the secondary growth is lusterless and depigmented and feels like steel wool;

A

Menkes disease

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14
Q

In Menkes disease

Arteriography discloses tortuosity and elongation of the _______ and _______ and occlusion of some.

The combination of intracerebral hemorrhage and metaphysial bone spurs, which may be
interpreted as “________ has led in some cases
to the erroneous diagnosis of child abuse.

A

corner fractures

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15
Q

The manifestations of this disease are attributable

to one of numerous known mutations in a copper transporting _________ resulting in: ________

A

adenosine triphosphatase (ATPase), ATP7 A

failure of Cu absorption

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16
Q

Treatment of Menkes disease:

Parenteral administration of cupric salts, usually in
the form of ______ administered subcutaneously
twice daily by the parents, restores the serum and
hepatic copper and may allow normal development in
a few children as noted above but it does not materially
influence the neurologic symptoms

A

copper histidine

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17
Q

General features of inherited metabolic disease:

there is a ________ and a paucity of movement without
paralysis or loss of reflexes; later there is _______

A

loss of postural tone

spasticity with
hyperreflexia and Babinski signs.

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18
Q

The differentiation of the inherited metabolic diseases
of infancy rests essentially upon four types of data:
1.
2.
3.
4.

A

(1) a few highly characteristic neurologic and ophthalmic
signs;
(2) the presence of an enlarged liver and / or
spleen;
(3) special dysmorphic features of the face; and
(4) the results of several relatively simple laboratory
tests, such as images of the thoracolumbar spine, hips,
and long bones

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19
Q
  1. Acousticomotor obligatory startle: ______
  2. Abolished tendon reflexes with definite Babinski
    signs: _____, _________, _________
A

Tay-Sachs disease

globoid cell (Krabbe) leukodystrophy, occasionally
Leigh disease, and (beyond infancy) metachromatic
leukodystrophy

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20
Q
  1. Peculiar eye movements, pendular nystagmus, and
    head rolling: ___________; later, hyperbilirubinemia and Lesch-Nyhan
    hyperuricemia (see below)
  2. Marked rigidity, opisthotonos, and tonic spasms:
    _______, _______ and _______
    (classic triad: trismus, strabismus, opisthotonos)
A

Pelizaeus-Merzbacher disease, Leigh
disease

Krabbe, Alpers disease, or infantile Gaucher disease

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21
Q
  1. Intractable seizures and generalized or multifocal
    myoclonus: _________
  2. Intermittent hyperventilation:___________
    lactic acidosis (also nonprogressive familial
    agenesis of vermis)
  3. Strabismus, hypotonia, seizures, lipodystrophy:
    ____________
A

Alpers disease

Leigh disease and congenital

carbohydrate-deficient glycoprotein syndrome

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22
Q
  1. Rapid pendular nystagmus: ___________, rarely Krabbe leukodystrophy, Cockayne syndrome (later age)
  2. Macular cherry-red spots: __________some cases of infantile NiemannPick disease, and rarely lipofuscinosis
  3. Corneal opacification: ________, _________; later, the mucopolysaccharidoses
  4. Cataracts: __________ (also congenital rubella)
A

Pelizaeus-Merzbacher disease,

Tay-Sachs disease and Sandhoff variant,

Lowe disease, infantile GM1 gangliosidosis

galactosemia, Lowe disease, Zellweger
disease

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23
Q
  1. Dysmorphic facies: generalized GM1 gangliosidosis,
    ________ and ________, and some early
    cases of mucopolysaccharidosis and mucolipidosis
  2. Enlarged liver and spleen: ________, _________; one type of hyperarnmonemia; Sandhoff disease; later, the _____________ and mucolipidoses
A

Lowe and Zellweger syndromes

infantile Gaucher disease and Niemarm-Pick disease

mucopolysaccharidoses

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24
Q
  1. Enlarging head without hydrocephalus (macrocephaly):
    ________ of infancy, some
    cases of _______ Alexander disease
  2. Beaking of vertebral bodies in radiographs: ________
    (and, at a more advanced age, the mucopolysaccharidoses, fucosidosis, marmosidosis, and
    the mucolipidoses)
A

Canavan spongy degeneration

Tay-Sachs disease,

GM1 gangliosidosis

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25
Q
  1. Multiple arthropathies and raucous dysphonia:
    ____________
  2. Storage granules and vacuolated lymphocytes:
    _____________ and __________
A

Farber disease

Niemarm-Pick disease, generalized 􀂉1 gangliosidosis

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26
Q

Three aminoacidopathies of the late infantile and

early childhood period-__________, ________ and _______

A

PKU, tyrosinemia, and Hartnup

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27
Q

One must refer to the phenylketonurias in the plural,
for there are

(1) the usual type and several mild and severe
variants thereof, in all of which _________ is
invariable if the disease is not treated early in life;

(2) other types, presumably allelic mutations, in which there is ________ without PKU and without effect
on the nervous system; and

(3) a rare adult type with a progressive ____________or without neurologic manifestations

A

mental retardation

hyperphenylalaninemia

spastic paraparesis

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28
Q

In PKU, By
5 to 6 years in an untreated child, when the IQ can be estimated,
it is usually less than ________

A

20, occasionally 20 to 50, and

exceptionally above 50

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29
Q

The majority of PKU patients are _______and fair in
skin and hair color, and their skin is rough and dry and
subject to ________

A

blue-eyed

eczema.

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30
Q 
A\_\_\_\_\_\_\_\_\_ odor (because of phenylacetic
acid excretion) can often be detected
A

musty body

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31
Q

The finding of high levels of serum _________(above

15 mg/ dL) and of _______ in the blood, CSF, and urine is diagnostic of PKU.

A

phenylalanine

phenylpyruvic acid

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32
Q

screening test for PKU and positive results

A

Guthrie test (ferric chloride)

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33
Q

In Guthrie test

It yields an _______ color that reaches
peak intensity in 3 to 4 min and fades in 20 to 40 min. In
contrast, the __________ color in the urine of patients
with histidinemia is permanent.

A

emerald-green

green-brown

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34
Q

A small number of infants have a variant of PKU in
which a restricted PA diet does not prevent neurologic
involvement. In some such infants, a ______________has appeared as
early as the neonatal period, and, according to Allen and
coworkers, it responds to _________

A

dystonic extrapyramidal rigidity (“stiff-baby syndrome”)

biopterin

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35
Q

This i s a rare, predominantly dermatologic arninoacidopathy, but in approximately one-half of the infants there is a mild to moderate degree of mental retardation.

Also, as in some other arninoacidopathies, there may be
self-mutilation and incoordination of limb movements.

A

H e red ita ry Ty ros i n e m i a ( Oc u l ocuta n e o u s

Ty ros i n e m i a ; R i c h n e r- H a n h a rt D i sease)

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36
Q

In H e red ita ry Ty ros i n e m i a

Palmar and plantar ______ with _______ and
pain are frequently present as a result of an inflammatory
reaction to deposits of crystalline tyrosine (also the cause
of the corneal changes).

A

keratosis

hyperhidrosis

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37
Q

Hereditary Tyrosinemia

The most severe form (type 1) is caused by a mutation in the gene (FAH) that codes for____________, the final enzymatic step in tyrosine metabolism,

A

fumarylacetoacetate hydrolase

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38
Q

the encephalopathy takes the form mainly of fluctuating
extrapyramidal signs in combination with ocular
and vegetative symptoms

A

Ty ros i n e Hyd roxy l ase Defi c i e n cy (TH M utati o n )

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39
Q

The clinical features consist of an intermittent
red, scaly rash over the face, neck, hands, and legs, resembling that of pellagra. It is often combined with an episodic personality disorder in the form of emotional lability, uncontrolled
temper, and confusional-hallucinatory psychosis;
episodic cerebellar ataxia

A

H a rt n u p D i s e a s e ( S LC6A 1 9 M utati o n )

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40
Q

In Hartnup dse

there is the excretion of large amounts of _______, mainly indoxyl sulfate, particularly after oral L-tryptophan loading, and an abnormally high excretion of nonhydroxylated indole
metabolites.

A

indicans

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41
Q

In Hartnup dse

Treatment consists of avoiding exposure to sunlight
and to ________ drugs. Because of the similarities
between pellagra and Hartnup disease, the usual practice is to give _______in doses of 50 to 300 mg daily

A

sulfonamide

nicotinamide

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42
Q

In Hartnup dse

Possibly a better response
is obtained by the administration of__________in doses of 20 mg/kg tid.

A

L-tryptophan ethyl

ester

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43
Q

Non Friedrich ataxia:

  1. Cerebellar ataxia with diplegia, hypotonia, and mental
    retardation (also called____________;
    this is a form of cerebral palsy.
  2. Agenesis of the cerebellum: early cerebellar ataxia
    (with or without mental retardation) and episodic
    hyperventilation; this group included the selective
    agenesis of the vermis-_________
  3. Cerebellar ataxia with cataracts and oligophrenia:
    onset from childhood (mainly) to as late as adult
    years________________
A

atonic diplegia of Foerster)

Joubert syndrome.

(Marinesco-Sjogren disease).

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44
Q

Non-Friedrich ataxia

  1. Familial cerebellar ataxia and retinal degeneration
    ________
  2. Familial cerebellar ataxia with cataracts and ophthalmoplegia or with cataracts and mental as well as
    physical retardation.
  3. Familial cerebellar ataxia with mydriasis.
A

(Behr disease).

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45
Q

persistent cerebellar ataxias of childhood in
which a metabolic fault or gene defect diseases

1.
2. 
3. 
4.
5.
A
  1. Refsum disease
  2. Abetalipoproteinemia (Bassen-Kornzweig syndrome)
  3. Ataxia-telangiectasia
  4. Galactosemia
  5. Friedreich ataxia
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46
Q

The abnormality is the mutation of the gene for enzyme arylsulfatase A, which prevents the conversion of sulfa tide to cerebroside (a major component of myelin) and results in an accumulation of the former.

A

Metach ro m atic Leu kodystrop hy ( M LD,

Arylsu lfatase Deficiency

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47
Q

In metachromatic leukodystrophy,

2 Types of mutations:

________ mutation causes a lack of active gene product and of the corresponding enzyme;

___________ mutation results in low levels

A

0-type

R-type

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48
Q

Clinical presentation of metachromatic leukodystrophy

A

The disease in this age group is characterized clinically
by progressive impairment of motor function (gait disorder,
spasticity) in combination with reduced output of speech
and mental regression

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49
Q

IN metachromatic leukodystropy,

The diagnostic laboratory findings, in addition to the
MRI and histologic changes, are the elevated _____________ and a marked_________ and an absence of _________ in white blood cells, in serum, and in cultured fibroblasts

A

CSF protein (75 to 250 mg/dL)

increase in sulfatide in urine

arylsulfatase A

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50
Q

Tx of metachromatic leukodystrophy

A

Treatment with enzyme replacement or bone marrow

transplantation is being tried.

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51
Q

polymorphism in approximately 7 percent of Europeans and makes the point that low enzyme levels alone are insufficient to be expressed as a phenotype of metachromatic leukodystrophy

A

“arylsulfatase pseudodeficiency,”

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52
Q

AR

psychomotor
deterioration (loss of ability to sit, stand, and
speak), marked hypotonia but brisk reflexes and Babinski
signs, and progressive blindness with optic atrophy but
normal retinae

A

In neuroaxonal dystrophy

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53
Q

In neuroaxonal dystrophy

Pathologic examination reveals ______________ in the posterior columns and nuclei of Goll and Burdach and in the Clarke column, substantia nigra, subthalamic nuclei, central nuclei of brainstem, and cerebral cortex

A

eosinophilic spheroids

of swollen axoplasm

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54
Q

As stated earlier, Gaucher disease usually develops in
early infancy, but some cases, so-called _________, may begin in childhood, between 3 and 8 years of
age

A

Gaucher disease

type III

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55
Q

finding of splenomegaly, Gaucher cells,
glucocerebroside storage, and deficient activity of glucocerebrosidase
in leukocytes or cultured fibroblasts

A

Gaucher Disease

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56
Q

a subacute or chronic neurovisceral storage disease with early signs of hepatosplenomegaly and later signs (2 to 4 years) of neurologic involvement.

A

Late I nfa ntile-Early C h i l d h ood

N i e m a n n -Pick Disease

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57
Q

In Niemann Pick dse

progressive dementia, dysarthria, ataxia, rarely
extrapyramidal signs (choreoathetosis), and \_\_\_\_\_\_\_\_, the latter being a distinguishing feature of the later-onset types
A

paralysis of

horizontal and vertical gaze

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58
Q

Variant of Niemann Pick

characterized by extrapyramidal symptoms and paralysis
of vertical eye movements.

A

juvenile dystonic lipidosis

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59
Q

Variant of Niemann Pick

(liver, spleen, and bone marrow contain histiocytes
with sea-blue granules)-in which there is retardation
in mental and motor development, grayish macular
degeneration, and, in rare cases, posterior column and
pyramidal degeneration

A

The syndrome of the “sea-blue

histiocyte”

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60
Q

I n type 2 o r so-called juvenile GM1 gangliosidosis, the
onset is between _________months, with survival for 3
to 10 years

A

12 and 24

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61
Q

In Late I nfa ntile-C h i l d hood GM1 G a n g l i osidosis

Important laboratory findings
are hypoplasia of the ____________ bodies,
mild hypoplasia of the _________, and the presence in
the bone marrow of__________ or
wrinkled cytoplasm.

A

thoracolumbar vertebral

acetabula

histiocytes with clear vacuoles

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62
Q

In Late I nfa ntile-C h i l d hood GM1 G a n g l i osidosis

leukocytes and cultured skin fibroblasts
show a deficiency or absence of ___________activity. GM1 ganglioside accumulates in the cerebral neurons.

A

beta-galactosidase

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63
Q

This is a group of diseases in which the storage of lipid in

neurons is combined with that of polysaccharides in connective tissues

A

M u copo lysacch a ridoses

64
Q

In MPS,

The nervous system may also be involved secondarily
as a result of skeletal _______ and ____________ of connective tissue at the base of the brain,
leading to obliteration of the subarachnoid space and
obstructive hydrocephalus or compression of the cervical
cord.

A

deformities and thickening and

hyperplasia

65
Q

In MPS,

All forms of the disease except the _________
which is sex-linked, are inherited in an autosomal
recessive pattern.

A

Hunter syndrome,

66
Q

This, the classic form, also known a s _________ , begins clinically toward the end of the first year.

Mental retardation is
severe, and skeletal abnormalities are prominent

A

MPS 1 OR HURLER’S

67
Q

In Hurler’s dse

The biochemical abnormalities consist of the accumulation
of _______ and _________(glycosaminoglycans)
in the tissues and their excretion in the u rine, probably as
a consequence of absence of activity of a-_________

A

dermatan
heparan sulfate

L-iduronidase.

68
Q

Tx of Hurler

A

Enzyme replacement therapy

Hematopoietic stem cell bone marrow transplantation

69
Q

In children with the _________ and those with CNS involvement, bone marrow
transplantation is not helpful and enzyme replacement
is recommended.

A

milder Scheie

form

70
Q

Unlike the Hurler and other types, the _________ form

(MPS II) is transmitted as an X-linked trait

A

Hunter

71
Q

Hurler and Hunter syndromes are clinically alike except that the ________ form is milder:

mental retardation is less severe
than in the Hurler type, deafness is less common, and
corneal clouding is usually absent

A

Hunter

72
Q

This form, o r MPS III, expresses itself clinically between 2
and 3 years of age, with progressive intellectual deterioration.
The patients are of short stature, but in other respects
the physical changes are fewer and less severe than in the Hunter and Hurler syndromes

A

S a nfi l i p p o D i sease

73
Q

This form o f the disease, MPS rv; i s characterized by

marked dwarfism and osteoporosis

A

Morqiuo dse

74
Q

Features of Morquio

Skeletal deformity and compression of the spinal cord and medulla are constant threats because of_______ and atlantoaxial dislocation and ________around the cervical cord and inferior surface of the cerebellum.

A

hypoplasia of the odontoid process

thickening of the dura

75
Q

There is excessive excretion of derma tan and heparan

sulfate, the result of a deficiency of B-glucuronidase

A

MPS 7 OR SLY DSE

76
Q

the morphologic features are those of
gargoylism, with slowly progressive mental retardation.
Cherry-red spots in the maculae, corneal opacities, and
ataxia have been noted in some patients

A

mucolipidosis I

77
Q

the most common of the mucolipidoses,

Abnormal facies and periosteal thickening (dysostosis m ultiplex, like that of GM1 gangliosidosis and Hurler disease) are characteristic.

A

mucolipidosis II (I-cell disease)

78
Q

symptoms do not appear until 2 years of age or later
and are relatively mild. Retardation of growth, fine corneal
opacities, and valvular heart disease are the major
manifestations.

A

m ucolipidosis III (pseudo-Hurler polydystrophy

79
Q

dysmorphic features of broad nose, depressed bridge, thick lips, and protruding tongue.

A

M a n n os i d os i s

80
Q

M a n n os i d os i s

Mannosiduria is diagnostic, caused by a defect
in __________. Mannose-containing oligosaccharides
accumulate in nerve cells, spleen, liver, and leukocytes

A

alpha-mannosidase

81
Q

a. Corneal clouding—several of the mucopolysaccharidoses
like ______, _________, _______ mucolipidoses, tyrosinemia, aspartylglycosaminuria
(rare)

b. \_\_\_\_\_\_\_\_\_\_\_\_-GMZ gangliosidosis,
GM1 gangliosidosis (half the cases), lipomucopolysaccharidosis,
occasionally Niemann-Pick disease

c. ____________________Jansky-
Bielschowsky lipid storage disease, GM1
gangliosidosis, syndrome of sea-blue histiocytes

A

(Hurler, Scheie, Morquio, Maroteaux-Lamy),

Cherry-red macular spot

Retinal degeneration with pigmentary deposits

82
Q

d. Optic atrophy and blindness-__________ and __________
e. _______________Marinesco-Sjogren syndrome, Fabry
disease, mannosidosis

f. Ocular apraxia-ataxia-telangiectasia, NiemannPick
disease
g. ____________late infantile
Niemann-Pick disease, juvenile dystonic lipidosis,
sea-blue histiocyte syndrome, Wilson disease

h. _____________ limited abduction-late
infantile Gaucher disease

A

metachromatic leukodystrophy, neuroaxonal dystrophy

Cataracts

Impairment of vertical eye movements-

Jerky eye movements,

83
Q

_____________-late-onset Niemann-Pick disease
(rigidity, abnormal postures), juvenile dystonic
lipidosis (dystonia, choreoathetosis), Rett, ataxiatelangiectasia
(athetosis), Sanfilippo mucopolysaccharidosis,
type I glutaric acidemia, Wilson disease,
Segawa dopa-responsive dystonia

A

Extrapyramidal signs

84
Q

___________Hurler, Scheie, Morquio,
and Maroteaux-Lamy forms of mucopolysaccharidosis,
aspartylglycosaminuria, mucolipidoses, GM1
gangliosidosis, mannosidosis, fucosidosis (some
cases), multisulfatase deficiencies (Austin), some
mitochondrial disorders

A

Facial dysmorphism-

85
Q

__________Hurler,
Morquio, and other mucopolysaccharidoses,
Cockayne syndrome

A

Dwarfism, spine deformities, arthropathies

86
Q

______________-Niemann-Pick disease,
Gaucher disease, all mucopolysaccharidoses, fucosidosis,
mucolipidoses, GM1 gangliosidosis

A

Enlarged liver and spleen

87
Q

__________(Cockayne syndrome
and one form of porphyria);

___________ (Fabry disease, fucosidosis);

telangiectasia of ears, conjunctiva, chest (ataxia-telangiectasia);

_______(Sjogren-Larsen disease, caused by
fatty alcohol dehydrogenase deficiency);

plaque-like lesions in _________

A

photosensitivity

papular nevi and angiokeratoma

ichthyosis

Hunter syndrome

88
Q

__________mucopolysaccharidoses, mannosidosis,
Cockayne syndrome
10. _________mucolipidoses, mannosidosis

  1. ____________all mucopolysaccharidoses,
    mucolipidoses, mannosidosis, fucosidosis
  2. __________-all mucopolysaccharidoses,
    mucolipidoses, mannosidosis, fucosidosis, multiple
    sulfatase deficiencies
A

Deafness-

Hypertrophied gurns-

Vacuolated lymphocytes-

Granules in neutrophils

89
Q

Of the other cerebellar ataxias of late childhood and adolescence, only the
1
2
3
4
5
fall into the category of truly metabolic disease

A 
BassenKornzweig acanthocytosis,
 late-onset G M2 gangliosidosis,
Refsum disease, 
ataxia-telangiectasia,
 and a genetic fault in vitamin E metabolism
90
Q

____________ is a prominent feature
of Unverricht-Lundborg (Baltic) disease and Lafora-body
disease

A

Cerebellar ataxia

91
Q

In____________ , spastic weakness and pseudobulbar palsy are combined
with cerebellar ataxia

A

cerebrotendinous xanthomatosis

92
Q

__________ children have
a broad-based gait and are clumsy in addition to being
obese, genitally deficient, and diabetic

A

Prader-Willi

93
Q

a rare metabolic disease of lipoproteins that causes ataxia, sensory neuropathy, and acanthocytic deformity of red cells

A

B a sse n - Ko r n zw e i g Aca nth ocytosis

Abeta l i po p rote i n e m i a

94
Q

Vitamin deficiency associated with Bassen Acanthocytosis

A

Vit E

95
Q

___________, in which progressive
muscular atrophy, seizures, involuntary movements,
and elevated serum creatine kinase (CK) are
combined in various configurations

A

McLeod syndrome

96
Q

This is another rare but well-defined disease resembling
abetalipoproteinemia, in which there is hypocholesterolemia,
acanthocytosis of red blood corpuscles, retinitis
pigmentosa, and a pallidal atrophy (HARP syndrome) .

A

Fa m i l i a l H y p o beta l i po p rote i n e m i a

97
Q

widespread, continuous myoclonus (except during
deep sleep) affecting male and female infants whose
development had been normal until the onset of the
disease at the age of 9 to 20 months

A

Myoclonic Enceph of Infants/ Opsoclonus-Myoclonus syndrome

98
Q

Treatment of Myoclonic Enceph of Infants/ Opsoclonus-Myoclonus syndrome:

___________ in doses of 1.5 to 4.0 mg/ d
suppresses the myoclonus and permits developmental
progress

Ordinary___________ seem to have no effect.

A

Dexamethasone

anticonvulsants

99
Q

F a m i l i a l Prog ress ive Myoc l o n u s

Five major categories o f familial polymyoclonus of
late childhood and adolescence have been delineated:
1
2
3
4
5`

A

( 1 ) Lafora- or amyloid-body type, (2) juvenile cerebraretinal
degeneration, (3) cherry-red spot myoclonus
(sialidosis or a-neuraminidase deficiency), (4) mitochondrial
encephalopathy, and (5) a more benign degenerative
disease (dyssynergia cerebellaris myoclonica of
Hunt) .

100
Q

polyglucosan bodies in the dentate, brainstem, and thalamic neurons

The myoclonus becomes widespread and can be evoked as a startle by noise, an unexpected tactile stimulus (even the tap of a reflex hammer), and also by excitement, or certain sustained motor activities

A

Lafora-Body Polymyoclonus With Epilepsy

101
Q

EEG of Lafora

A

The EEG shows diffuse slow waves and

spikes as well as bursts of focal or multifocal discharges

102
Q

HP of Lafora

A

Neuropathologic examinations have shown a slight loss
of granule and Purkinje cells and loss of neurons in the
dentate nuclei, inner segment of globus pallidus, and
cerebral cortex in addition to the Lafora bodies

103
Q

ceruloplasmin, the serum protein that binds copper,
is reduced in this disease

recession of symptoms
after prolonged treatment with BAL

A

Hepalenticular degeneration/ Wilson’s dse

104
Q

In Wilson’s dse:

The gene, called ATP7B (homologous
with the ATP7 A gene, which is defective in Menkes
disease), codes for a membrane-bound, _________

A

copper-binding

ATPase

105
Q

In Wilson’s dse

The mutation gives rise to two fundamental disturbances
of copper metabolism:

1.

2.

A

(1) a reduced rate of incorporation
of copper into ceruloplasmin and (2) a reduction
in biliary excretion of copper

106
Q

In Wilsons

The first neurologic manifestations are most often
_________ with a proclivity to affect the oropharyngeal
musculature.

A

extrapyramidal

107
Q

dysphagia and drooling, rigidity and slowness

of movements of the limbs; flexed limb postures, “vacuous smile”; dysarthria or virtual anarthria

A

Wilson’s dse

108
Q

In Wilson’s:

They take the form of a crescentic rusty-brown discoloration of the deepest layer of the cornea (Descemet membrane).

A

KF rings

109
Q

T or F,

In Wilsons

In the purely hepatic stage of the disease,
the rings may not be evident (in 25 percent of cases), but
they are virtually always present (if properly sought) once the neurologic signs become manifest

A

T

110
Q

Dx of Wilsons

low serum ________ level (less than 20 mg/ dL in 80 to 90 percent of patients),

low serum _________ (3 to 10 mM/L; normal ll to
24 mM/L), and

increased urinary copper excretion (more
than 100 mg Cu/24 h) corroborate the diagnosis

A

ceruloplasmin

copper

111
Q

In Wilsons

Early
in the course of the illness, the most reliable diagnostic
findings are a _______________ (more than 200 f/-g Cu/ g dry weight) and a failure
to incorporate ________

A

high copper content in a biopsy of liverc tissue

labeled 64Cu into ceruloplasmin

112
Q

T or F

Persistent
aminoaciduria, reflecting a renal tubular abnormality, is
present in most but not all patients.

A

T

113
Q

MRI of Wilsons

also an increase in T1 signal throughout the basal
ganglia, particularly in the __________

A

pallidum

114
Q

HP of Wilsons

in the rapidly
advancing and fatal form, there is frank cavitation in the
____________

A

lenticular (putamina! and pallidal) nuclei,

115
Q

In Wilsons

marked hyperplasia
of protoplasmic astrocytes ____________in
the cerebral cortex, basal ganglia, brainstem nuclei, and
cerebellum, almost certainly a reaction to liver failure and
hyperarnmonemia.

A

(Alzheimer type II cells)

116
Q

Tx of Wilsons

reduction of
dietary copper to less than ________ which can usually
be accomplished by avoidance of copper-rich foods

A

1 mg/d,

117
Q

Tx of Wilsons

administration of the copper chelating agent
D_________ by mouth, in divided doses.

___________ should be added in order to prevent
anemia.

A

-penicillamine (1 to 3 g/d)

Pyridoxine 25 mg/ d

118
Q

adverse reactions with penicillamine

A

(lupus-like or nephrotic

syndromes or myasthenia gravis

119
Q

alternative for penicillamine

A

triethylene

tetramine (trientine) or ammonium tetrathiomolybdate

120
Q

___________ which blocks the intestinal
absorption of copper, is also a suitable treatment, but
ineffective alone

A

Zinc,

121
Q

T or F

institution of treatment
with penicillamine may induce an abrupt remission of
neurologic signs

A

F

worsening

122
Q

An important aspect of treatment is the screening of
potentially affected relatives for abnormalities of serum
copper and ceruloplasmin; if any relative is found to
have the disease, penicillamine should be given _____________to prevent the emergence of neurologic symptoms

A

indefinitely

123
Q

This is a rare illness, similar t o Wilson disease, occurring
in patients with a recessively inherited deficiency of ceruloplasmin;
it is not simply a heterozygous form of Wilson
disease (the mutation involves a different gene).

A

H e red ita ry Defi c i e n cy of C e r u l o p l as m i n

Ac e r u l o p l a s m i n e m i a , C P M utati o n

124
Q

also

known as pigmentary degeneration of the globus pallidus.

A

N e u ro d e g e n e rati o n With B ra i n I ro n

Acc u m u l at i o n ( Fo r m e r l y, H a l l e rv o r d e n - S patz D i sease, PA N K M utati o n )

125
Q

In Hallervorden-Spatz dse,

caused by, in all classic cases, a defect in the gene encoding ____________ usually in the form of a missense
mutation.

A

pantothenate kinase 2 (PANK2),

126
Q

In Hallervorden-Spatz dse,

there is increased uptake of radioactive
iron in the region of the __________ following intravenous injection of labeled ferrous citrate

A

basal ganglia

127
Q

In Hallervorden-Spatz dse,

In T2-weighted images, the rim of
the pallidum appears intensely black (iron deposition),
with a small white area in its medial part that represents
a zone of __________

A

necrosis

128
Q

MRI

“eye-of-the-tiger

A

In Hallervorden-Spatz dse,

129
Q

In Hallervorden-Spatz dse,

T or F

Tx is Levo-dopa

A

F

No TX

130
Q

it is a hereditary choreoathetosis with self-mutilation and

hyperuricemia

A

Lesc h - N yh a n Sy n d ro m e ( H P RT 1 M utati o n )

131
Q

In Lesch Nyhan Syndrome

A deficiency of the enzyme ______________ has been found in all typical cases of this disease

A

hypoxanthine guaninephosphoribosyl transferase (HPRT)

132
Q

In Lesch Nyhan Syndrome

This is with the xanthine oxidase inhibitor
allopurinol, which blocks the last steps of uric acid
synthesis, reduces the uric acid in Lesch-Nyhan disease,
and prevents the _________, but it seems to
have no effect on CNS symptoms

A

uricosuric nephropathy

133
Q

In Lesch Nyhan Syndrome

_______ is reported to have suppressed the self-mutilation after haloperidol (Haldol) had failed to do so.

A

Fluphenazine

Prolixin

134
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’s dse

135
Q

T or F,

In Fahr’s dse

The serum calcium levels in the aforementioned
diseases are usually normal and there is no explanation
of the calcification

A

T

136
Q

The terms ________, ________ , ________
etc., refer to the distinctive products of myelin degeneration and staining characteristics (or lack thereof) of the white matter in the individual leukodystrophies

A

metachromatic, sudanophilic, orthochromic,

137
Q

The fundamental defect is impairment in peroxisomal
oxidation of very-long-chain fatty acids (VLCFAs), leading
to their accumulation in the brain and adrenal glands

A

Ad renoleu kodystrop hy ( S u d a n o p h i l i c

Leu kodystrophy, ABCD 1 M utati o n }

138
Q

Ad renoleu kodystrop hy (ALD)

The deficient membrane protein, encoded by
a gene that maps to chromosome\_\_\_\_\_\_\_\_\_, is a peroxisomal
membrane transporter (ABCD1
A

X28

139
Q

Subtypes of ALD

1.__________________-the
classic type, accounting for half of all cases

2. An intermediate form in juvenile or young adult
males with\_\_\_\_\_\_\_\_\_\_\_\_\_\_involvement (5 percent
of cases)
3. A progressive \_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_ in adult
males (25 percent of cases)
A

A progressive degeneration of cerebral white matter
in young males, often with cortical blindness

cerebral and spinal

spinal cord tract degeneration

140
Q

Subtypes of ALD

  1. A chronic mild, nonprogressive spastic paraparesis in
    ______________ carriers (10 percent of cases)
  2. Familial instances of ___________ without neurologic
    involvement in males (10 percent of cases)
  3. Possibly, in male infants, a form originating at birth
    ____________
A

heterozygous female

Addison disease

(e.g., Zellweger disease)

141
Q

Lab dx of ALD

The specific laboratory marker of the disease is an excess of VLCFAs, in particular three measurements are of value:

the absolute level of
__________, the ratio of C26 to C22 (docosahexanoic
acid; C26:C22), and of C24 (tetracosanoic acid)
to docosahexanoic acid (C24:C22) in plasma, erythrocytes,
leukocytes, or cultured fibroblasts

A

hexacosanoic acid (C26)

142
Q

metabolic diseases associated with stroke

A

homocystinuria, Fabry
disease, and sulfite oxidase deficiency,
Tangier disease and familial hypercholesterolemia.

143
Q

This aminoaciduria i s inherited a s an autosomal recessive

trait and simulates Marfan disease

A

H o m ocyst i n u ri a

144
Q

In Homocyinuria,

The only neurologic abnormality is ________usually
of mild degree, which sets this syndrome apart from
Marfan disease, in which intellect is unimpaired

A

mental retardation,

145
Q

T or F
In Homocyinuria,
Blood vessel changes of thickening and fibrosis of the
coronary, cerebral, and renal arteries tend to appear later
in the illness.

A

T

146
Q

In Homocystinuria,

Homocysteine is elevated in the blood and CSF, and
homocystine in the urine. This is because of an inherited
____________ that results in an inadequacy of cystathionine formation, a substance essential
to many tissues including the brain

A

cystathionine synthase deficiency

147
Q

In Homocystinuria,

The administration of large doses (50 to 500 mg) of
_________ (a cystathionine synthase coenzyme), ______
5 mg daily and ______ (vitamin B12) 1,000 !lg daily,
reduces the excretion of homocystine

A

pyridoxine

folate

cobalamin

148
Q

This disease, also known as angiokeratoma corporis diffusum, is inherited as an X-linked recessive tra

A

Fa b ry D i sease (An d e rso n-Fa b ry D i sease, G LA

M utat i o n ) (

149
Q

The primary deficit is in the enzyme
___________, the result of which is the accumulation of ceramide trihexoside in endothelial, perithelial, and smooth muscle cells of blood vessels as well as in renal tubular and glomerular cells and other viscera and in nerve cells in many parts of the nervous system

A

alpha-galactosidase A

150
Q

There was an increased level of sulfite and
thiosulfate and an abnormal amino acid, 5-sulfocysteine,
in the blood.

A

S u l fite O x i d a s e Defi c i e n cy

151
Q

the histochemical and electron-microscopic abnormalities of the muscle mitochondria in a childhood myopathy; which they called _____________(meaning marked enlargement of the mitochondria)
or _________(referring to an excessive number
of mitochondria)

A

megaconial

pleoconial

152
Q

so named because of the subsarcolemmal
and intermyofibrillar collections of membranous mitochondrial) material in the type 1 (red) muscle fibers
as visualized by the Gomori trichrome stain in sections
of frozen muscle

A

“ragged red fibers,”

153
Q

A second unifying feature of mitochondrial diseases is an
elevation of __________or of the ___________
ratio in the blood and CSF; this is the result of
the respiratory chain abnormalities.

A

lactate concentration

lactate-to pyruvate

154
Q

________and ________ particularly have a tendency to
exhibit elevations of lactate; however, the diagnosis of
either cannot be excluded in the presence of normal levels of this substance, even after provocation by exercise

A

Leigh syndrome

MELAS

155
Q

________a symmetrical subacute
necrotizing encephalomyelopathy; usually with
lactic acidosis,

A

Leigh syndrome,

Neurology - Physiology (44 decks)

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