Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings

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منابع مشابه

Teaching NeuroImages: MRI in methylmalonic acidemia.

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...

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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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ژورنال

عنوان ژورنال: Scientific Reports

سال: 2020

ISSN: 2045-2322

DOI: 10.1038/s41598-020-70113-y