Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome
Document Type
Article
Abstract
We studied the clinical, histopathologic, neuroradiologic, biochemical, and genetic profile of a patient with the myo-neuro-gastrointestinal encephalopathy syndrome, a recently described multisystem mitochondriopathy characterized by blepharoptosis and ophthalmoparesis. The patient had severe intestinal pseudo-obstruction and a mixed demyelinating and axonal neuropathy. Abnormal collections of mitochondria in nerve and muscle as well as diffuse white matter disease were present. Cytochrome oxidase activity in muscle mitochondria was reduced. No mitochondrial DNA deletions were detected.
Medical Subject Headings
Adult; Axons (ultrastructure); Blepharoptosis (genetics, pathology); Chromosome Deletion; DNA, Mitochondrial (genetics); Demyelinating Diseases (genetics, pathology); Female; Humans; Intestinal Pseudo-Obstruction (genetics, pathology); Mitochondria, Muscle (ultrastructure); Neuromuscular Diseases (genetics, pathology); Ophthalmoplegia (genetics, pathology); Syndrome
Publication Date
9-15-1992
Publication Title
American journal of ophthalmology
ISSN
0002-9394
Volume
114
Issue
3
First Page
322
Last Page
8
PubMed ID
1524123
Digital Object Identifier (DOI)
10.1016/s0002-9394(14)71799-4
Recommended Citation
Threlkeld, A B.; Miller, N R.; Golnik, K C.; Griffin, J W.; Kuncl, R W.; Johns, D R.; Lehar, M; and Hurko, O, "Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome" (1992). Neurology. 1598.
https://scholar.barrowneuro.org/neurology/1598