MITOCHONDRIAL ENCEPHALOMYOPATHY - A RARE GENETIC CAUSE OF SENSORINEURAL HEARING-LOSS

被引：8

作者：

DONOVAN, TJ ^{[1
]}

机构：

[1] ST LOUIS UNIV,DEPT OTOLARYNGOL,ST LOUIS,MO 63103

来源：

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY | 1995年 / 104卷 / 10期

关键词：

GENETICS; MELAS SYNDROME (MITOCHONDRIAL ENCEPHALOMYOPATHY WITH LACTIC ACIDOSIS AND STROKE); MITOCHONDRIAL ENCEPHALOMYOPATHY; SENSORINEURAL HEARING LOSS;

D O I：

10.1177/000348949510401007

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

A 44-year-old man with a documented 12-year history of progressive sensorineural hearing loss developed a generalized tonic-clonic seizure followed by a visual field deficit and apraxia. Six months later he developed a peripheral neuropathy and muscle fatigue followed by a slowly progressive aphasia and cortical blindness as well as increased seizure activity. A computed tomography scan showed bilateral basal ganglion calcification. The serum lactate level was elevated at 3.4 mEq/dL. A muscle biopsy enabled the diagnosis of mitochondrial myopathy. This disorder is presented as an unusual cause of progressive sensorineural hearing loss in adults.

引用

页码：786 / 792

页数：7

共 24 条

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