[Schilder's diffuse myelinoclastic sclerosis]

Abstract

Objective: The aim of this study is to analyze clinical features, neuroradiological findings and evolution associated with Schilder s disease (SD).

Patients and methods: We describe 5 cases (4 female/1 male) diagnosed of SD. Clinical characteristics, neuroimaging (CT and MRI), EEG, evoked potential analysis (4/5) and laboratory tests are provided, including the level of serum very long chain fatty acid of plasma cholesterol esters (3/5).

Results: Patients were aged between 7 and 12 years. The first clinical manifestations were: hemiparesis (3/5), quadriparesis dysarthria (1/5), and seizures cerebellar dysfunction (1/5). Other clinical features were: partial seizures (3/5), cerebellar dysfunction (2/5), loss of sensibility (3/5), visual loss (1/5), and dysarthria (2/5). CT scan and MRI showed large zones of hypodensity in the hemispheric white matter (4/5) with enhancement in T2 weighted MRI images. This finding was also observed in medulla (1/5) and cerebellum (1/5). Laboratory data were normal. EEGs showed general slow background patterns in all cases. Abnormal evoked potential analysis were recorded in 3 children. Clinical improvement followed the steroid therapy in all cases. Clinical evolution was: minimal motor disabilities (5/5), recurrences (3/5), controlled seizures (3/3), and psychomotor retardation (1/5).

Conclusions: SD is a rare demyelinating disorder, with a probable relationship to multiple sclerosis. The course of this disease is unpredictable; recurrences may appear and sequelae are frequently observed. Diagnosis should be based on clinical features, neuroradiological findings and evolution.