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Neuropysch > Metabolic CNS disease > Flashcards

Metabolic CNS disease Flashcards

1
Q

Most lysosomal storage disorders are _____

Most affect the ______

How common are they

A

Auto Recessive (few X linked)

most effect CNS

seen in about 1:100,000 pts

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2
Q

When to suspect a Metabolic disorder

A

Prsentaiton doesn’t fit text book, not respond to tx, look for diagnostic clues

May only become recognizable in stress, illness, injury

Not reconginzing can lead to irreversible brain injury or organ injury or death

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3
Q

Do the right thing when you suspect Metabolic disorder

A

PE with medical hx, check glucose/ammonia/pH, call metabolic specialist, check electorlytes, CK, LFT, lactate and urine, store critical sample at hypoglycemic state, get metabolic panel workup, think of three I’s: infection, intox, idiopathic

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4
Q

General things to do when you suspect metabolic disorder

A

Lethargy/somnolence/metabolic alkalosis or acidosis, excess lactate or ketosis, recurrent hypoglycemia, progression w/ regression, weird imaging,

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5
Q

Intracell digestion, acid hydrolase to break down macro, get LDS if missing essential protein for fnx

A

Lysosomes

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6
Q

Neuronal storage disease from accum. Gangliosides (lots in brain!) w/in neurons.

A

Gangliosides

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7
Q

GM2 gangliodisodse: deficiency of lysosomal enZ::

Tay Sachs = ______

Sandhoff = _____

A

Hexoaminidase A

Hexoaminidase B

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8
Q

Accumulation of INERT substrates or metabolites

A

Storage disorders

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9
Q

Examples of Lysosomal Storage disorders

A

 Lysosome assembly (Golgi apparatus)

 Trafficking of lysosomal enzymes (glycosylation)

 Enzyme deficiency (single gene defect)

 Co-factor defect

 Transporter defect

 {miners disease (silicosis) and asbestosis are not considered defects in lysosomal function}

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10
Q

Tay-Sachs disease:

 High incidence in Ashkenazi Jews

 Gene on chromosome______

 DX: enzyme assay of serum, WBC, or cultured fibroblasts

A

15, >100 mutations described

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11
Q

Clincal picture of infant with Tay Sachs

A

 Normal at birth then 6 mos. – psychomotor, retardation evident

 S/S progress –> Blindness,motor incoordination, eventual flaccidity, mental deterioration,

eventual decerebrate state

 Cherry red spot in macula

 Death by 2-3 years

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12
Q

 Normal at birth then 6 mos. – psychomotor, retardation evident

 S/S progress –> Blindness,motor incoordination, eventual flaccidity, mental deterioration,

eventual decerebrate state

 Cherry red spot in macula

 Death by 2-3 years

A

Tay Sachs

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13
Q

Pathophysiology of Tay-Sachs

A

Alpha subunit of Hex A affected; lots of alpha subs in brain thus lots of neurological issues

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14
Q

What do we see on this image of child that has huge head and cherry red macula

A

Tay Sachs, Hex A, Chrom 15

Abnormal accumulation of gangliosides, Enlarged ballooned neurons filled with PAS positive material (stored gangliosides)

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15
Q

What do we see in pt w/ Tay Sachs thats in EM

A

have membranous cytoplasmic bodies (flvor of garbage)

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16
Q

Tx working on for Tay Sachs

A

enZ replacement or “chaperone” proteins to make Hex A fold the right fucking way

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17
Q

Globoid Cell Leukodystrophy: LSD that is_______ on chrom ______

::: death by 2 yrs

A

Autosomal Recessive

Chromsome 14

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18
Q

What is wrong in Krabbe disease?

Where does shit accumulate?

A

Deficienct Galactocerebroside B-galactosidase: get accumulation of psychosine (toxic) fucks up oligodentrocytes. Galactocerbroside part of myelin sheathà accumulates in the globoid cells

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19
Q

Krabbe: Deficienct ________: get accumulation of psychosine (toxic) fucks up oligodentrocytes.

Galactocerbroside part of myelin sheath–> accumulates in the _____

A

Galactocerebroside B-galactosidase

globoid cells

20
Q

Clincal pt of baby dx with Krabbe disease

A
21
Q

Is there a tx available for Krabbe disease?

A

Tx: Cord/BM transplant in pre-symptomatic phase;

22
Q

Pathology characterized by

loss of myelin and oligodendrocytes (and Schwann cells in the PNS) reactive astrogliosis
multinucleated macrophages called globoid cells accumulate around blood vessels

A

Krabbe’s Disease (Globoid Cell Leukodystrophy

23
Q

Gross specimen shows loss of white matter adn preservation of U fibers from 2 year old. Disease caused by EnZ deficency causing accumulaiton of pyschosine that damaged oligodentrocytes

A

Krabbes: globoid cell leukodystrophy; deficeint galactocerebroside-B-galactosidase

*deterioration of white matter, preserve U fibers

24
Q

Histology shows Globoid macrophagtes adn clusters around vessels, tehre is SEVERE astrocytosis with decreaed number of oligodendrocytes.

A

KRabbes

25
Q

EM you see globoid cells with crstalloid strait or tubular profiles

A
26
Q

Pattern of inhreitance for Metachormasia leukodystrophy

Gene

A

LSD that is Auto.Recessive

Gene 22

27
Q

What is defieincy in metachromatic leukodystrophy and what is the result

A

 Deficiency of ARYL SULFATASE A
 Metachromatic lipids (sulfatides) accumulate in brain, peripheral nerves, and kidney

28
Q

How do we screen for metachromatic leukodystrophy

How do we diagnose it?

A

 Screen of urinary sediment for metachromatic deposits

aDX: demonstrate enzyme deficiency in urine, WBC, or fibroblasts

29
Q

IN metachormatic leukodystrophy_____ accumulation leads to breakdown of_____, but how this happens is not known

A

Sulfatide

myelin

30
Q

Young child has gait disorder and motor syptoms

see sulfatidile accumulation in urine

A

Metachromatic leukodystrophy; lives 5-10 more years

31
Q

How do adults present with metachromatic Leuko?

is there a tx?

A

Adult – usually present with psychosis & cognitive impairment, eventual motor symptoms

Treatment: bone marrow stem cell transplantation (before

symptoms appear)

32
Q

Brain is normal exterior but white matter is firm.

Has marked loss of myelin with preservation of U fibers

A

Metachromatic leukodstrophy

33
Q

Describe findings in histology this pt, what is the missing enZ

A

metachromatic leukodystrophy

missing aryl sulfatase A

see metachrmosia of white matter deposits

34
Q

 Peroxisomal disorder
 Peroxisomes - cytoplasmic spherical “microbodies”
 Contain catalase
 Involved in fatty acid ß-oxidation (and more)

A

Adrenoleukodystrophy

35
Q

 Decreased activity of very long chain fatty acyl-CoA synthetase (in peroxisomes) : results in excess of very long chain fatty acid esters in plasma, cultured fibroblasts, and affected organs (CNS, PNS, adrenal glands)

A

Adrenoleukodystrophy

36
Q

Genetics in adrenoleukodystrophy

A

X linked

37
Q

 Onset 5-9 years or 11-21 years

 Dementia, visual/hearing loss, seizures

 Adrenal insufficiency follows Neuro S/S

A

 Classic form of adrenoleukodystrophy

38
Q

 Occurs in adult (20-30 years)

 Slowly progressive leg clumsiness/stiffness; eventual spastic paraplegia

 Adrenal insufficiency may precede Neuro S/S

A

Adrenomyeloneuropathy

39
Q

Describe adrenoleukodystrophy grossly

A

gray discoloration of white matter with marked firmness : see laked of white staining

preservation of U fibers and sever demyelination

40
Q

What do we see on histlogy in adrenoleukodystrophy

A

perivascular inflammation and PAS positive macrophages

41
Q

Can occur as a complication of severe liver disease or chronic portocaval shunting

Pathogenesis is incompletely understood, but is partially related to hyperammonemia

A

Hepatic Encephalopathy

42
Q

Early vs late manifestations in Hepatic Encephalopathy

A

Early manifestations include inattentiveness and short term memory impairment

Later features include confusion, asterixis (flapping tremor of outstretched hands), drowsiness, stupor, and coma

***Patients may also have foul breath (fetor hepaticus), hyperventilation, gait disturbances, and choreoathetosis

43
Q

MRI abnormalities include increased T1 signal in the globus pallidus, subthalamus, and midbrain, and cortical edem

A

hepatic encephalopathy

44
Q

Concerns with Acute hepatic encephalopathy, what about chronic?

is there tx?

A

Acute hepatic encephalopathy can be rapidly fatal.

Chronic or repeated episodes can lead to permanent and progressive neuropsychiatric disturbances

Liver transplant!

45
Q

You see cleared out cytoplasm in cells that are scattered thorughout the cortex, there are type 2 Alzeheimer astrocytes present

A

Hepatic encephalopathy

Neuropysch (18 decks)

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