A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis.
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.
Aynaci
F Müjgan
FM
Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, 61080 Trabzon, Turkey. fmaynaci@dr.com
Cakir
Ertugrul
E
Aynaci
Osman
O
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