Trichothiodystrophy with severe cardiac and neurological involvement in two sisters

Eur J Pediatr. 2001 Dec;160(12):728-31. doi: 10.1007/s004310100845.


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.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathies / pathology*
  • DNA Repair
  • Echocardiography
  • Female
  • Genes, Recessive
  • Hair / chemistry*
  • Hair / pathology
  • Hair / ultrastructure
  • Hair Diseases / genetics
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging
  • Neurocutaneous Syndromes / genetics*
  • Nuclear Family
  • Sulfur / deficiency*


  • Sulfur