title: Cerebellar and cerebral atrophy in trichothiodystrophy.
abstract: Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matter, which is similar to the previously described cases. In addition, there was progressive cerebellar and cerebral atrophy, which has not been well documented in association with trichothiodystrophy.
authors.affiliation: Department of Radiology, British Columbia Children's Hospital, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
authors.forename: Hye-Kyung
authors.initials: HK
authors.lastname: Yoon
authors.forename: Michael A
authors.initials: MA
authors.lastname: Sargent
authors.forename: Julie S
authors.initials: JS
authors.lastname: Prendiville
authors.forename: Kenneth J
authors.initials: KJ
authors.lastname: Poskitt
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002386:Cataract / Q000151:congenital / Q000235:genetics; D005260:Female; D006201:Hair Diseases / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009260:Nail Diseases / Q000235:genetics; D010026:Osteosclerosis / Q000235:genetics