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

AYNACI F., Cakir E., AYNACI O.

CHILDS NERVOUS SYSTEM, cilt.18, sa.12, ss.707-711, 2002 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 12
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1007/s00381-002-0627-7
  • Dergi Adı: CHILDS NERVOUS SYSTEM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.707-711
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.