MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.

[pyruvate dehydrogenase deficiency]

Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA . Most patients with pyruvate dehydrogenase deficiency have a defect in the E 1 alpha subunit , associated with mutations in the PDHA 1 gene . In this report , we submit detailed magnetic resonance images in 4 affected female patients with PDHA 1 mutations who had with severe cortical atrophy , dilated ventricles , and an incomplete corpus callosum . In one of these patients , the magnetic resonance imaging pattern prompted molecular diagnostic testing when enzymatic testing was normal . We underscore that this constellation of features , which may be misdiagnosed as periventricular leukomalacia , illustrates a pattern highly suggestive of a deficiency of pyruvate dehydrogenase E 1 alpha in female patients and should trigger appropriate diagnostic investigations .

Diseases
Validation

Diseases presenting "corpus callosum" symptom

adrenomyeloneuropathy

alexander disease

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

gm1 gangliosidosis

hirschsprung disease

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

krabbe disease

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

proteus syndrome

pyruvate dehydrogenase deficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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