Original Paper

European Journal of Pediatrics

, Volume 160, Issue 12, pp 728-731

Trichothiodystrophy with severe cardiac and neurological involvement in two sisters

  • Sandra P. ToelleAffiliated withDivision of Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032 Zurich
  • , Emanuela ValsangiacomoAffiliated withDivision of Cardiology, University Children's Hospital, Zurich
  • , Eugen BoltshauserAffiliated withDivision of Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032 Zurich

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Abstract.

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 skin, nervous system, eyes and bones as well as the immune, gonadal and endocrine systems. We report the first cases of dilated cardiomyopathy in two sisters with trichothiodystrophy, leading to cerebral infarction in the younger one. In addition, both suffer from severe hearing impairment, osteosclerosis, and psychomotor retardation with central hypomyelination. Conclusion: severe cardiac involvement and stroke may be associated features of trichothiodystrophy.

Cardiomyopathy Congenital heart defect Hypomyelination Stroke Trichothiodystrophy