Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.
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.
D001927:Brain Diseases / Q000150:complications; D005260:Female; D005917:Globus Pallidus / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008314:Malonates / Q000097:blood*; D008764:Methylmalonic Acid / Q000097:blood*; D014057:Tomography, X-Ray Computed; D014805:Vitamin B 12 / Q000627:therapeutic use
D008314:Malonates; D008764:Methylmalonic Acid; D014805:Vitamin B 12