Uvebrant P
Acta Paediatr Scand. 1985 Jan;74(1):137-9. doi: 10.1111/j.1651-2227.1985.tb10936.x.
Two sisters are described with mucopolysaccharidosis (MPS) Sanfilippo type C syndrome. This diagnosis is emphasized to be easily overlooked due to subtile clinical and radiological deviations, but should be considered in any case of unspecific progressive mental retardation, especially when sleep disturbance, aggressivity and hyperactivity are prominent symptoms.
本文描述了两姐妹患有黏多糖贮积症(MPS)C型综合征(Sanfilippo综合征)。强调由于临床和影像学表现细微,该诊断容易被忽视,但在任何非特异性进行性智力发育迟缓的病例中都应予以考虑,尤其是当睡眠障碍、攻击性和多动为突出症状时。