Neurology 1981-Apr
Pyruvate dehydrogenase deficiency restricted to brain.
登録ユーザーのみが記事を翻訳できます
ログインサインアップ
リンクがクリップボードに保存されます
キーワード
概要
We studied a child with a rapidly progressive neurologic disorder, with psychomotor retardation, hypotonia, seizures, and respiratory disturbances. Laboratory studied showed elevated levels of lactate and pyruvate in cerebrospinal fluid (CSF), without notable elevated levels in serum. In liver, muscle, leukocytes, and cultured fibroblasts we found no abnormality in pyruvate oxidation; biochemical studies of a brain biopsy showed an isolated deficiency of pyruvate dehydrogenase complex in brain tissue with the morphologic picture of progressive poliodystrophy with hypomyelination.