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Ophthalmologic Manifestations in MELAS Syndrome
Woan Fang, MD;
Chin-Chang Huang, MD;
Chen-Chun Lee, MD;
Shaw-Yi Cheng, MD;
Cheng-Yoong Pang;
Yau-Huei Wei, PhD
Arch Neurol. 1993;50(9):977-980.
Abstract
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• We describe a 15-year-old boy with full-blown mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) and chronic progressive external ophthalmoplegia (CPEO). He presented with visual disturbance, hearing impairment, continuous partial epilepsy on the right aspect of the face, and right hemiparesis since the age of 13. Four months later, he experienced another strokelike episode with continuous partial epilepsy on the left hand. Serial computed tomographic scans revealed bilateral parieto-occipital hypodense lesions with gyral enhancement and an additional low-density lesion in the right frontal area 4 months later, respectively. Results of laboratory examinations disclosed lactic acidosis and mitochondrial myopathy with many ragged-red fibers. To identify the defective gene in mitochondrial DNA, a simple molecular test was performed by using restriction endonuclease Apa I. A transition from A to G was found at nucleotide position 3243 of the tRNALeu gene. Interestingly, the patient also had marked external ophthalmoplegia and ptosis commonly found in patients with CPEO. Therefore, we suggest that ophthalmoplegia also occurs in the MELAS syndrome.
Author Affiliations
From the Department of Neurology, Chang Gung Memorial Hospital (Drs Fang, Huang, and Cheng), the Department of Neurology, China Medical College Hospital (Dr Lee), and the Department of Biochemistry, National Yang-Ming Medical College (Mr Pang and Dr Wei), Taipei, Taiwan, Republic of China.
Footnotes
Accepted for publication August 17, 1992.
Reprint request to Department of Neurology, Chang Gung Memorial Hospital, Chang Gung Medical College, 199 Tung-Hwa North Rd, Taipei, Taiwan, Republic of China (Dr Huang).
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