Procopis P G
Clin Exp Neurol. 1981;18:98-101.
Nine children with a proven enzymological diagnosis of metachromatic leucodystrophy are described. All except one have shown a progressive course with the clinical features of peripheral neuropathy, corticospinal tract involvement and dementia. Seizures and cerebellar signs also may occur. Abnormalities in nerve conduction, CSF, sural nerve biopsy and CT scan are described. One patient presented with language regression but after 5 years still had not developed other features of MLD.
本文描述了9例经酶学诊断确诊为异染性脑白质营养不良的儿童。除1例以外，所有患儿均呈现病情进展，伴有周围神经病变、皮质脊髓束受累及痴呆的临床特征。癫痫发作和小脑体征也可能出现。文中还描述了神经传导、脑脊液、腓肠神经活检及CT扫描的异常情况。1例患儿出现语言功能倒退，但5年后仍未出现异染性脑白质营养不良的其他特征。
