Kutai Miriam, Shalev Stavit A, Chervinski Ilana, Mazor Galia, Rabie Malcolm, Nevo Yoram
Neuropediatric Clinic, Ha-Emek Medical Center, Afula, Israel.
Pediatr Neurol. 2006 Dec;35(6):425-9. doi: 10.1016/j.pediatrneurol.2006.06.017.
Five infants of a Moslem-Arab extended family were evaluated for common and characteristic clinical findings of failure to thrive, extreme muscle weakness, severe motor delay, and moderate to severe cognitive and verbal delay. All children were below the third percentile in weight and height, and three of them had head circumference below the third percentile. Neurologic examination revealed severe hypotonia, muscle weakness, and absent deep tendon reflexes. Two children died at 2 years of age, and none of the children acquired full head control and the motor milestones of rolling and sitting. Laboratory evaluation including muscle biopsies, genetic studies, and metabolic evaluation was nondiagnostic.
对一个穆斯林-阿拉伯大家庭的五名婴儿进行了评估，以检查其生长发育迟缓、极度肌肉无力、严重运动发育迟缓以及中度至重度认知和语言发育迟缓等常见且典型的临床症状。所有儿童的体重和身高均低于第三百分位，其中三名儿童的头围也低于第三百分位。神经系统检查显示严重的肌张力减退、肌肉无力以及深部腱反射消失。两名儿童在2岁时死亡，没有一个孩子能够完全控制头部，也未达到翻身和坐立等运动发育里程碑。包括肌肉活检、基因研究和代谢评估在内的实验室检查均未得出诊断结果。
