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.
CITATION STYLE
Harreld, J. H., Smith, E. C., Prose, N. S., Puri, P. K., & Barboriak, D. P. (2010). Trichothiodystrophy with dysmyelination and central osteosclerosis. American Journal of Neuroradiology, 31(1), 129–130. https://doi.org/10.3174/ajnr.A1665
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