Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.
This article describes a 37-year-old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Laboratory studies disclosed lactic acidosis, ragged red fibers lacking cytochrome c oxidase, high-normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencephalopathy and multiple mitochondrial DNA deletions. This is the fourth patient described with this clinical syndrome, which represents a separate entity among multisystemic mitochondrial disorders. The patient described here is the first with this syndrome to have multiple mitochondrial DNA deletions.
Uncini
A
A
Center for Neuromuscular Diseases, University of Chieti, Italy.
Servidei
S
S
Silvestri
G
G
Manfredi
G
G
Sabatelli
M
M
Di Muzio
A
A
Ricci
E
E
Mirabella
M
M
Di Mauro
S
S
Tonali
P
P
D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics; D003711:Demyelinating Diseases / Q000150:complications; D005260:Female; D005767:Gastrointestinal Diseases / Q000150:complications; D017353:Gene Deletion; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000150:complications; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009135:Muscular Diseases / Q000150:complications; D009886:Ophthalmoplegia / Q000150:complications; D009626:Terminology as Topic
D004272:DNA, Mitochondrial