van Zuilen E V, Gabreëls F J, Renier W O, Pinckers A J, ter Laak H J, Stadhouders A M
Neuropediatrics. 1984 Aug;15(3):159-64. doi: 10.1055/s-2008-1052361.
A case is reported of a girl suffering from generalized hypertrophic myopathy and chorioretinal dystrophy since early infancy. A muscle biopsy taken at age seven revealed a general enlargement of the muscle fibers with a concomitant extensive degeneration of myofibrils. At age fourteen, the patient developed a struma lymphomatosa (Hashimoto). This report is the first describing an association of these three diseases.
报告了一例自婴儿早期就患有全身性肥厚性肌病和脉络膜视网膜营养不良的女孩。七岁时进行的肌肉活检显示肌纤维普遍增大,同时肌原纤维广泛变性。十四岁时,该患者患上了淋巴瘤性甲状腺肿(桥本氏病)。本报告首次描述了这三种疾病的关联。