Atypical imaging findings in the setting of methylmalonic acidemia in an infant
نویسندگان
چکیده
منابع مشابه
Atypical imaging findings in the setting of methylmalonic acidemia in an infant
Classically, methylmalonic acidemia (MMA) is characterized on imaging by abnormalities in the basal ganglia, specifically the globus pallidi, as well as occasional signs of delayed maturation. We report a case of MMA in which abnormal signal and diffusion restriction occurred in the subcortical white matter, sparing the classically involved globus pallidi, a situation that has not been previous...
متن کاملMethylmalonic acidemia
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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Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborn wit...
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BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...
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ژورنال
عنوان ژورنال: Radiology Case Reports
سال: 2012
ISSN: 1930-0433
DOI: 10.2484/rcr.v7i4.749