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

AYNACI F., Cakir E., AYNACI O.

CHILDS NERVOUS SYSTEM, no.12, pp.707-711, 2002 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2002
  • Doi Number: 10.1007/s00381-002-0627-7
  • Journal Name: CHILDS NERVOUS SYSTEM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.707-711
  • Karadeniz Technical University Affiliated: Yes

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.