Trichothiodystrophy with Dysmyelination and Central Osteosclerosis

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...

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Bibliographic Details
Published in:American journal of neuroradiology : AJNR 2010-01, Vol.31 (1), p.129-130
Main Authors: Harreld, J.H, Smith, E.C, Prose, N.S, Puri, P.K, Barboriak, D.P
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child, Preschool
Demyelinating Diseases - complications
Demyelinating Diseases - diagnosis
Humans
Investigative techniques, diagnostic techniques (general aspects)
Magnetic Resonance Imaging
Male
Medical sciences
Nervous system
Osteosclerosis - complications
Osteosclerosis - diagnosis
Pediatrics
Radiodiagnosis. Nmr imagery. Nmr spectrometry
Trichothiodystrophy Syndromes - complications
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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.
ISSN:0195-6108
1936-959X
DOI:10.3174/ajnr.A1665