Haenggeli C A, Engel E, Pizzolato G P
Department of Paediatrics, Hôpital Cantonal Universitaire, Geneva, Switzerland.
Dev Med Child Neurol. 1989 Dec;31(6):803-7. doi: 10.1111/j.1469-8749.1989.tb04077.x.
Type II connatal Pelizaeus-Merzbacher disease is a degenerative disease of the developing nervous system. Confirmation of diagnosis is only by histopathological examination at present. The authors describe an infant with several clinical features which are apparently unique to this disease. These features may allow a presumptive clinical diagnosis to be made in other cases, thereby allowing valuable genetic counselling to be given before the death of the affected infant enables confirmation by autopsy.
II型先天性佩利措伊斯-梅茨巴赫病是一种发育中的神经系统退行性疾病。目前仅通过组织病理学检查来确诊。作者描述了一名具有该病明显独特的几个临床特征的婴儿。这些特征可能有助于对其他病例做出临床初步诊断，从而在患病婴儿死亡通过尸检得以确诊之前就能提供有价值的遗传咨询。
