Ishii A, Watanabe S, Ohkoshi N, Mizusawa H, Kanazawa I
Department of Neurology, University of Tsukuba.
Rinsho Shinkeigaku. 1991 Feb;31(2):179-83.
A case of 25-year-old woman with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) was reported. She had short stature, episodic vomiting with headache, several episodes with homonymous hemianopsia, progressive intellectual decline, generalized convulsion, muscular atrophy, sensory disturbance on the left side of the body, and primary amenorrhea. Lactate, pyruvate and the lactate to pyruvate ratio were elevated in the serum and cerebrospinal fluid. Muscle biopsy revealed ragged-red fibers. On electron microscopy there were subsarcolemmal aggregations of abnormal mitochondria with proliferation of crista and inclusions. Activities of the respiratory chain enzymes of the muscle mitochondria were normal. She showed a failure of GH response to arginine and levodopa and delayed response of serum GH to growth hormone releasing factor (GRF). She also showed decreased gonadotropin levels and delayed response of the hormone to LH-RH. In this case, a dysfunction of the hypothalamo-pituitary axis may be related to the short stature and primary amenorrhea. It is suggested that the hypothalamo-pituitary hypofunction may be one of the characteristic features in MELAS.
报告了一例25岁患有线粒体脑肌病伴乳酸酸中毒和卒中样发作（MELAS）的女性病例。她身材矮小，伴有发作性呕吐和头痛，多次出现同向性偏盲，进行性智力衰退，全身性惊厥，肌肉萎缩，身体左侧感觉障碍，以及原发性闭经。血清和脑脊液中的乳酸、丙酮酸以及乳酸与丙酮酸的比值升高。肌肉活检显示有破碎红纤维。电子显微镜检查发现肌膜下异常线粒体聚集，嵴增生并有包涵体。肌肉线粒体呼吸链酶的活性正常。她对精氨酸和左旋多巴的生长激素（GH）反应失败，血清GH对生长激素释放因子（GRF）的反应延迟。她还表现出促性腺激素水平降低以及该激素对促黄体生成素释放激素（LH-RH）的反应延迟。在该病例中，下丘脑 - 垂体轴功能障碍可能与身材矮小和原发性闭经有关。提示下丘脑 - 垂体功能减退可能是MELAS的特征之一。
