title: Progressive white-matter disease with primary cerebellar involvement: a separate entity?
abstract: Abstract. Although its metabolic basis has not yet been clarified, we report a progressive white-matter disease in a Turkish girl, starting in the cerebellum and spreading to supratentorial white matter. The onset was at the age of 2.5 years with diabetes insipidus, followed by ataxia and pyramidal signs resulting in loss of walking. Aqueduct stenosis was first recognised at the age of 8 years. To our knowledge, this MRI and clinical pattern does not correspond to a recognised, well-defined white-matter disease and may indicate a separate entity.
authors.affiliation: Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: C
authors.initials: C
authors.lastname: Yalcinkaya
authors.forename: I
authors.initials: I
authors.lastname: Arslanoglu
authors.forename: C
authors.initials: C
authors.lastname: Islak
authors.forename: A
authors.initials: A
authors.lastname: Aydin
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
mesh_terms: D017668:Age of Onset; D001921:Brain / Q000473:pathology; D002526:Cerebellar Diseases / Q000175:diagnosis* / Q000473:pathology; D002648:Child; D003711:Demyelinating Diseases / Q000175:diagnosis* / Q000473:pathology; D003919:Diabetes Insipidus / Q000175:diagnosis; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging