Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.
Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) due to previously undescribed mutations (Pro250Thr, Arg88Cys) in the gene for the E1alpha subunit (PDHA1). Taken in context with the literature, these patients suggest that acute weakness initially resembling Guillain-Barré syndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH-deficient patients.
Division of Medical Genetics, CHU Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Montreal, Québec, H3T 1C5, Canada.
Francois-G
FG
Debray
Marie
M
Lambert
Michel
M
Vanasse
Jean-Claude
JC
Decarie
Jessie
J
Cameron
Valeriy
V
Levandovskiy
Brian H
BH
Robinson
Grant A
GA
Mitchell
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000209:etiology*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications* / Q000175:diagnosis*