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

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...

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Bibliographic Details
Published in:Child's nervous system 2002-12, Vol.18 (12), p.707-711
Main Authors: MIIJGAN AYNACI, F, CAKIR, Ertugrul, AYNACI, Osman
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Craniosynostoses - diagnosis
Craniosynostoses - surgery
Craniotomy
Errors of metabolism
Humans
Infant
Magnetic Resonance Imaging
Male
Medical sciences
Metabolic diseases
Mucolipidoses - diagnosis
Mucolipidoses - genetics
Tomography, X-Ray Computed
Tropical medicine
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Description
Summary: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.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-002-0627-7