new_n_lost
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A young adult has progressive intellectual deterioration, weakness, ataxia, and seizures. Reference laboratory tests demonstrate an abnormality of an important mitochondrial enzyme.
From which of the following diseases is this person most likely suffering?
A. Adrenoleukodystrophy
B. Central pontine myelinolysis
C. Krabbe's disease
D. Leigh's disease
E. Metachromatic leukodystrophy
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| usmle4me
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D.Leigh Disease
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| new_n_lost
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With only 10 Views R U GUYS RUNNING AWAY FROM GENETICS CMON PPL THESE R EASY ONES
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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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| keepgoing
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 d
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| new_n_lost
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I know u Guys will think NNL is gone Overboard with Such Quesztions but infact the Reason i posted theis question was only one that we Need to Mitochondrial DNA diseases cause apart from the Chromosomes One.
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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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| new_n_lost
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The correct answer is D.
Leigh's disease, also known as subacute necrotizing encephalomyelopathy, is a very rare disease that most physicians will never encounter in real life. The specific defective enzyme, in at least some cases, is cytochrome oxidase, one of the components of the electron transport system. Muscle and brain are particularly affected. Patients have the presentation described in the question and typically die within several years.
Adrenoleukodystrophy (choice A) is an X-linked disease with abnormal lipid metabolism leading to demyelination in the CNS.
Central pontine myelinolysis (choice B) is characterized by demyelination of the pons (especially the basis pontis) seen after overlying rapid correction of hyponatremia.
Krabbe's disease (choice C) is an autosomal recessive accumulation of cerebrosides in histiocytes in the CNS.
Metachromatic leukodystrophy (choice E) is an autosomal recessive accumulation of sphingolipids in the CNS and elsewhere.
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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