Sztriha L, Al-Gazali L I, Várady E, Goebel H H, Nork M
Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University.
Neuropediatrics. 1999 Jun;30(3):141-5. doi: 10.1055/s-2007-973479.
The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. They had a syndrome of micrencephaly with simplified gyral pattern, abnormal myelin formation and arthrogryposis. Increased variation of fiber size was seen in the muscle biopsy, creatine kinase, however was normal. Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic process in the muscles. The syndrome showed an autosomal recessive inheritance.
描述了一个近亲结婚的阿拉伯家庭中出生的两名婴儿的临床病程、神经影像学和肌肉活检结果。他们患有脑过小综合征，伴有脑回模式简化、髓鞘形成异常和关节挛缩。肌肉活检可见纤维大小变异增加，但肌酸激酶正常。大片肌肉被脂肪纤维组织替代。婴儿具有与胎儿运动减少/运动功能减退序列一致的畸形特征。这些异常提示可能与肌肉发育异常过程相关的微小脑回畸形。该综合征表现为常染色体隐性遗传。
