Late‐onset presentation of pyruvate dehydrogenase deficiency

Abstract

Two brothers presented in their mid-forties with movement disorders including atypical parkinsonism, choreiform movements, stereotypies, ataxia and dysarthria. Both brothers showed putaminal lucencies on imaging and, in the proband, a deficiency of the pyruvate dehydrogenase complex (PDHC) was found on skin fibroblast assay.

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

“…Very few adults with PDHc deficiency have been described to date (see for examples Robinson,1 Debray and colleagues3 and Mellick and colleagues4). Most had episodes of ataxia, confusion, muscle weakness or hyperventilation triggered by high sugar intake or fever since childhood 1 2.…”

Brain MR Imaging and Proton MR Spectroscopy in Female Mice with Pyruvate Dehydrogenase Complex Deficiency

“…In all brain regions occasional heterotopias were described similar to those observed in the murine model (Table 1). [20,[31][32][33][34][35][36][37][38][39][40][41]. Further, while the extent of MR detectable regional abnormalities in the brain varied markedly between patients, defects of cortex and white matter structures were involved in all cases suggestive of their higher susceptibility to a reduced oxidation of pyruvate.…”

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

“…Finally, a small and incompletely characterized subset consists of PDH-deficient patients who are clinically normal except for intermittent neurologic episodes. Recurrent ataxia [1,2,15,21,22] is the best known, but acute dystonia in children [11] and complex extrapyramidal movements in adults [17] were recently described. GBS, which is treatable and is the commonest acute motor neuropathy in children [13], was the presumptive initial diagnosis of our patients.…”

“…Clinical presentations range from fatal neonatal lactic acidosis to chronic nonprogressive encephalopathy [21]. A few patients, mainly males, present with intermittent cerebellar [1,2,15] or extrapyramidal signs [11,17].…”