title: Neuropathological and clinical correlations in Hurler disease.
abstract: We report studies on two patients (1 and 2) with Hurler disease. They both had all of the non-neurological features of Hurler disease to a similar and extreme degree and similar signs of brain damage on computed tomography. However, intellectual function was unusually well-preserved in patient 1, but seriously and typically impaired in patient 2. The reason for this discrepancy has been investigated by reference to the neuropathological findings, the results of alpha-L-iduronidase assays using different substrates and comparisons to other cases (patients 3 and 4). We suggest that patient 1 is an unusual variant of the disease who may have had a very low residual alpha-L-iduronidase activity in neuronal cells only, and that this could not be demonstrated by either enzyme assays on whole brain using the 4-methylumbelliferyliduronide substrate (Crow et al., 1983) or in studies on fibroblast lysates using a radioactive disaccharide substrate.
mesh_terms: D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002557:Cerebrospinal Fluid Shunts; D002648:Child; D005260:Female; D006026:Glycoside Hydrolases / Q000172:deficiency*; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007068:Iduronidase / Q000172:deficiency*; D008578:Meninges / Q000473:pathology; D008854:Microscopy, Electron; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009474:Neurons / Q000648:ultrastructure; D009929:Organ Size; D014057:Tomography, X-Ray Computed
chemical_list: D006026:Glycoside Hydrolases; D007068:Iduronidase