MELAS SYNDROME - PERIPHERAL NEUROPATHY AND CYTOCHROME-C-OXIDASE DEFICIENCY - A CASE-REPORT AND REVIEW OF THE LITERATURE

被引:0
|
作者
BARAK, Y [1 ]
ARNON, S [1 ]
WOLACH, B [1 ]
RAZ, Y [1 ]
ASHKENASI, A [1 ]
GLICK, B [1 ]
SHAPIRA, Y [1 ]
机构
[1] HADASSAH UNIV HOSP,DEPT PEDIAT NEUROL,IL-91120 JERUSALEM,ISRAEL
来源
ISRAEL JOURNAL OF MEDICAL SCIENCES | 1995年 / 31卷 / 04期
关键词
MELAS SYNDROME; MITOCHONDRIAL MYOPATHIES;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A 4-year-old boy presented with developmental delay, aggressive behavior, and incoordination. His EEG showed a diffuse encephalopathy. At age 10 he developed convulsions and severe migraine-like headaches. Muscle wasting, arreflexia, and lactic acidemia following exercise were noted. Electromyography was myopathic and nerve conduction studies revealed a peripheral neuropathy. Muscle biopsy demonstrated variation in fiber size and an excess of lipid droplets. He then had several stroke-like episodes and periods of unconsciousness, associated with severe metabolic acidosis. Muscle cytochrome C oxidase was abnormally low. This boy displayed the classical clinical and biochemical features of MELAS syndrome, namely Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes. Treatment included carnitine, vitamin C, vitamin K, riboflavin, coenzyme Q(10), and corticosteroids. He died at the age of 14 years following an episode of seizures, coma, and gastrointestinal hemorrhage. This is the first reported case of MELAS syndrome in Israel.
引用
收藏
页码:224 / 229
页数:6
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