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Trichothiodystrophy with dysmyelination and central osteosclerosis.
- Source :
-
AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2010 Jan; Vol. 31 (1), pp. 129-30. - Publication Year :
- 2010
-
Abstract
- Trichothiodystrophy (TTD) is a rare group of autosomal recessive disorders of DNA repair unified by the presence of sulfur-deficient brittle hair. We report a 3-year-old boy with classic clinical features of TTD, including ichthyosis, alopecia, developmental delay, and tiger-tail banding of the hair shaft on polarizing microscopy. Brain MR imaging showed both diffuse dysmyelination and osteosclerosis, findings that, in combination, may be specific for TTD.
Details
- Language :
- English
- ISSN :
- 1936-959X
- Volume :
- 31
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- AJNR. American journal of neuroradiology
- Publication Type :
- Academic Journal
- Accession number :
- 20075106
- Full Text :
- https://doi.org/10.3174/ajnr.A1665