Cerebellar and cerebral atrophy in trichothiodystrophy

Pediatr Radiol. 2005 Oct;35(10):1019-23. doi: 10.1007/s00247-005-1495-6. Epub 2005 May 24.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Atrophy
  • Brain / pathology*
  • Cataract / congenital
  • Cataract / genetics
  • Female
  • Hair Diseases / genetics
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Ichthyosis / genetics
  • Magnetic Resonance Imaging
  • Nail Diseases / genetics
  • Osteosclerosis / genetics