RT Journal Article
SR Electronic
T1 Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 129
OP 130
DO 10.3174/ajnr.A1665
VO 31
IS 1
A1 Harreld, J.H.
A1 Smith, E.C.
A1 Prose, N.S.
A1 Puri, P.K.
A1 Barboriak, D.P.
YR 2010
UL http://www.ajnr.org/content/31/1/129.abstract
AB SUMMARY: 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.