Koide Y, Yamashita N, Kurusu T, Kugai N, Kuzuhara S, Fujita T, Itakura M, Kawai K, Yamashita K
Endocrinol Jpn. 1983 Aug;30(4):499-507. doi: 10.1507/endocrj1954.30.499.
A male patient with recurring episodes of hypoglycemic attacks was diagnosed as having isolated ACTH deficiency as well as renal glycosuria and ichthyosis vulgaris. In addition, he had facial diplegia and abducens palsy consistent with Moebius syndrome, muscle atrophy with proximal dominancy, high arched palate, hammer toes, and mental retardation. There was electrophysiological evidence of peripheral neuropathy. Muscle biopsy of the deltoid showed mild myofiber atrophy with occasional cylindrical laminated bodies. The association of these disorders has never been reported and it could be coincidental. However, considering the high rate of association of isolated hypogonadotropic hypogonadism and Moebius syndrome with peripheral neuropathy, the present case may indicate a causal relationship between isolated ACTH deficiency and Moebius syndrome, reflecting the disorders in the organ systems derived from a common ectoderm.
一名患有反复低血糖发作的男性患者被诊断为孤立性促肾上腺皮质激素缺乏症，同时伴有肾性糖尿和寻常型鱼鳞病。此外，他还患有与莫比乌斯综合征相符的面瘫和外展神经麻痹、以近端为主的肌肉萎缩、高弓腭、锤状趾以及智力发育迟缓。有外周神经病变的电生理证据。三角肌肌肉活检显示轻度肌纤维萎缩，偶见圆柱形层状体。这些病症的关联此前从未有过报道，可能只是巧合。然而，鉴于孤立性低促性腺激素性性腺功能减退症和莫比乌斯综合征与外周神经病变的高关联率，本病例可能表明孤立性促肾上腺皮质激素缺乏症与莫比乌斯综合征之间存在因果关系，反映了源自共同外胚层的器官系统中的病症。
