Open AccessMitochondrial disease mimicking Charcot-Marie Tooth disease
Author(s) -
Merrilee Needham,
John A. Duley,
Sarah P. Hammond,
Geoffrey Herkes,
Michio Hirano,
Carolyn M. Sue
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.06.2009.2001
Subject(s) - medicine , peripheral neuropathy , disease , multisystem disease , encephalopathy , myopathy , mitochondrial myopathy , mitochondrial disease , tooth disease , pathology , gastrointestinal system , mitochondrial dna , genetics , diabetes mellitus , biology , gene , endocrinology
Charcot-Marie tooth disease (CMT) is a heterogenous group of peripheral neuropathies caused by various genetic defects. Three cases of mitochondrial myopathy, neuropathy and gastrointestinal encephalopathy (MNGIE) which initially presented with a peripheral neuropathy resembling CMT are described here. The diagnosis in all three cases was made after they developed eye signs and abdominal complaints. Young patients with mutation negative CMT should be followed up to monitor for signs of MNGIE.