F Müjgan Aynaci1, Ertugrul Cakir, Osman Aynaci. 1. Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, 61080 Trabzon, Turkey. fmaynaci@dr.com
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.
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.
Authors: Majid Alfadhel; Wafaa AlShehhi; Hesham Alshaalan; Mohammed Al Balwi; Wafaa Eyaid; Wafaa Eyaida Journal: Ann Saudi Med Date: 2013 Jul-Aug Impact factor: 1.526