A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis


AYNACI F., Cakir E. , AYNACI O.

CHILDS NERVOUS SYSTEM, vol.18, no.12, pp.707-711, 2002 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 12
  • Publication Date: 2002
  • Doi Number: 10.1007/s00381-002-0627-7
  • Title of Journal : CHILDS NERVOUS SYSTEM
  • Page Numbers: pp.707-711

Abstract

Case report: In this paper, a patient with mucolipidosis II (I-cell disease) is described. The initial findings were microcephaly and metopic craniosynostosis. He had coarse facial features and dysostosis multiplex. The first child in his family had died with severe bone pathology at 5 months of age. Conclusion: The case is presented to emphasize that craniosynostosis may be the first symptom in mucolipidosis II.