Rittinger O, Bachmann C, Irnberger T, Pilz P, Walter G F, Wendel U, Plöchl E
Klin Padiatr. 1986 Jan-Feb;198(1):37-43. doi: 10.1055/s-2008-1026850.
A severely retarded and tetraspastic child died at the age of four years upon a respiratory infection with acidosis, disturbances of serum electrolytes and lactic aciduria. Brain autopsy showed a spongy degeneration and led to suspect an inborn error of amino-acid metabolism. These findings corresponded with the results of computer-tomography and were supported by post mortem amino-acid analysis. An intermediate variant of leucinosis was detected in an younger sister at the age of five months after cerebral convulsions and opisthotonic posture. The activity of the branched chain ketoacid decarboxylase in fibroblasts was reduced to 3-4% of normal. A protein restricted diet allowed a nearly normal cerebral development and improvement of computer-tomographic results. The similarity of clinical and biochemical data in both children indicate that a maple syrup urine disease was most likely the underlying disease in the older sister. Later performed electron-microscopical examinations of the older sister indicate that spongy degeneration of the central nervous system in leucinoisis is caused by a spongy myelinopathy, which is different from the alterations found in Canavan's disease, what could be pointed out for the first time.
一名重度智力发育迟缓且四肢痉挛的儿童在四岁时因呼吸道感染伴酸中毒、血清电解质紊乱和乳酸性尿症死亡。脑部尸检显示有海绵状变性，怀疑是氨基酸代谢的先天性缺陷。这些发现与计算机断层扫描结果相符，并得到死后氨基酸分析的支持。在一名五个月大的妹妹出现脑惊厥和角弓反张姿势后，检测到中间型亮氨酸血症。成纤维细胞中支链酮酸脱羧酶的活性降至正常的3 - 4%。限制蛋白质饮食使脑部发育几乎正常，计算机断层扫描结果有所改善。两个孩子临床和生化数据的相似性表明，枫糖尿症很可能是姐姐的潜在疾病。后来对姐姐进行的电子显微镜检查表明，亮氨酸血症中中枢神经系统的海绵状变性是由海绵状髓鞘病引起的，这与卡纳万病中发现的改变不同，这是首次指出。
