Cerebellar and cerebral atrophy in trichothiodystrophy.
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.
Yoon
Hye-Kyung
HK
Department of Radiology, British Columbia Children's Hospital, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
Sargent
Michael A
MA
Prendiville
Julie S
JS
Poskitt
Kenneth J
KJ
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