MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
نویسندگان
چکیده
منابع مشابه
MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia.
BACKGROUND Bilateral infarcts confined to the globus pallidus are unusual and occur in conjunction with only a few disorders, including isolated methylmalonic acidemia, a heterogeneous inborn error of metabolism. On the basis of neuroradiographic features of metabolic strokes observed in a large cohort of patients with methylmalonic acidemia, we have devised a staging system for methylmalonic a...
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A 41-year-old man was found unconscious at his home by a friend. He was immediately admitted to the hospital through the emergency department. At the emergency department he regained consciousness. He mentionned he had a few alcoholic beverages the night before but otherwise clinical history was negative. On physical examination swelling of the right orbital area was evident. Further clinical h...
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An 18-month-old girl presented with recurrent episodes of encephalopathy, starting from the third postnatal day, and delayed development. Her parents were nonconsanguineous. She had microcephaly, generalized hypotonia, brisk stretch reflexes, extensor plantar response, choreiform movements, and dystonia of hands and feet. Evaluation showed metabolic acidosis and hyperammonemia. Tandem mass spec...
متن کاملNeurocognitive phenotype of isolated methylmalonic acidemia.
OBJECTIVE Methylmalonic acidemia (MMA) is a metabolic disorder with a poorly defined long-term neurocognitive phenotype. We studied the neuropsychological outcomes of patients and examined clinical covariates that influenced cognition. METHODS A diverse cohort with mut, cblA, or cblB subtypes of isolated MMA (N = 43), ages 2 to 32 years, were evaluated at a single center over a 6-year period....
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The authors provide an overview of the hereditary methylmalonic acidemias, a group of metabolic disorders with varied clinical presentations. This includes the most severe form of L-methylmalonyl-CoA mutase deficiency, termed mut(o) methylmalonic acidemia, which, together with the less severe deficiencies of L-methylmalonyl-CoA mutase, are the most common causes of methylmalonic acidemia. They ...
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ژورنال
عنوان ژورنال: American Journal of Neuroradiology
سال: 2014
ISSN: 0195-6108,1936-959X
DOI: 10.3174/ajnr.a4087