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

• DOI: 10.1007/s00381-002-0627-7
• Publication Date: 2003-02-12T22:47:05Z
• Authors: Müjgan Aynaci; Ertugrul Çakır; Osman Aynaci
• Keywords: Mucolipidosis; Microcephaly; Craniosynostoses; Trigonocephaly

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.The case is presented to emphasize that craniosynostosis may be the first symptom in mucolipidosis II.