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.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Yoon HK,Sargent MA,Prendiville JS,Poskitt KJ

doi

10.1007/s00247-005-1495-6

keywords:

subject

Has Abstract

pub_date

2005-10-01 00:00:00

pages

1019-23

issue

10

eissn

0301-0449

issn

1432-1998

journal_volume

35

pub_type

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