title: A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis.
abstract: METHODS
  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.
  
  
  CONCLUSIONS
  The case is presented to emphasize that craniosynostosis may be the first symptom in mucolipidosis II.
authors.affiliation: Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, 61080 Trabzon, Turkey. fmaynaci@dr.com
authors.forename: F Müjgan
authors.initials: FM
authors.lastname: Aynaci
authors.forename: Ertugrul
authors.initials: E
authors.lastname: Cakir
authors.forename: Osman
authors.initials: O
authors.lastname: Aynaci
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D003398:Craniosynostoses / Q000175:diagnosis* / Q000601:surgery; D003399:Craniotomy; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics; D014057:Tomography, X-Ray Computed