Trichothiodystrophy with severe cardiac and neurological involvement in two sisters

Trichothiodystrophy or sulphur-deficient brittle hair is a clinical marker for several autosomal recessive neurocutaneous syndromes. The typical hair abnormality is frequently associated with many alterations affecting the sk in. nervous system, eves and bones as well as the immune, gonadal and endoc rine systems. We report the first cases of dilated cardiomyopathy in two si sters with trichothiodystrophy, leading to cerebral infarction in the young er one. In addition, both suffer from severe hearing impairment. osteoscler osis, and psychomotor retardation with central hypomyelination. Conclusion: severe cardiac involvement and stroke may be associated features of tricho thiodystrophy.