title: Metachromatic leucodystrophy in children.
abstract: 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.
mesh_terms: D001706:Biopsy; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007966:Leukodystrophy, Metachromatic / Q000150:complications / Q000000981:diagnostic imaging / Q000201:enzymology / Q000503:physiopathology*; D008297:Male; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000150:complications; D011859:Radiography; D012640:Seizures / Q000150:complications; D013497:Sural Nerve / Q000473:pathology
chemical_list: D002556:Cerebrospinal Fluid Proteins