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Bilateral lucency of the globus pallidus complicating methylmalonic acidemia
Author(s) -
Korf Bruce,
Wallman James K.,
Levy Harvey L.
Publication year - 1986
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410200317
Subject(s) - methylmalonic acidemia , globus pallidus , cobalamin , hyperammonemia , encephalopathy , medicine , ketoacidosis , hyperglycinemia , propionic acidemia , pediatrics , anesthesia , endocrinology , vitamin b12 , basal ganglia , chemistry , biochemistry , central nervous system , glycine , amino acid , type 1 diabetes , diabetes mellitus
Abstract A child was seen because of encephalopathy and metabolic ketoacidosis at 19 months. She was found to have a cobalamin‐responsive form of methylmalonic acidemia of the cbl A complementation group. However, after treatment with cyanocobalamin and a protein‐restricted diet, with recovery from the encephalopathy, she was found to have a tremor and bilateral dystonic posturing in association with lucencies in the globus pallidi shown by computed tomographic scan.