Type I sialidosis: A clinical, biochemical and neuroradiological study

We report biochemical, morphological and neuroradiological findings in a 40 -year-old woman affected with type I sialidosis, The clinical symptoms, con sisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth vent ricle, Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We em phasize the prolonged course of illness in this patient, observed over a lo ng period of time. Of particular interest is the neuroradiological study sh owing our findings both at the beginning of the disease and after 20 years. Copyright (C) 2000 S. Karger AG, Basel.