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.
Debray
Francois-G
FG
Division of Medical Genetics, CHU Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Montreal, Québec, H3T 1C5, Canada.
Lambert
Marie
M
Vanasse
Michel
M
Decarie
Jean-Claude
JC
Cameron
Jessie
J
Levandovskiy
Valeriy
V
Robinson
Brian H
BH
Mitchell
Grant A
GA
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*