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Mucopolysaccharidosis type I and craniosynostosis

  • Case Report - Pediatrics
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Abstract

Mucopolysaccharidosis type-I is caused by a deficiency of the lysosomal enzyme α-L-iduronidase, resulting in gradual deposition of glycosaminoglycans in multiple body organs, affecting physical appearance and system functioning. We present the first reported case associating MPS-I (Hurler-Scheie subtype) with craniosynostosis. A 2.5-year-old girl presented initially with macrocrania. On clinical and radiological examinations we noted a scaphocephaly with dysmorphic facial features of MPS confirmed later on. Intracranial hypertension was documented at fundoscopy (papilloedema) and ICP monitoring, and then surgically treated. This association of scaphocephaly and MPS-I highlights the importance of a meticulous physical examination performed by craniofacial, metabolic and ophthalmologic teams.

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Authors and Affiliations

  1. Craniofacial Unit, Department of Pediatric Neurosurgery, Hôpital Universitaire Necker-Enfants Malades, APHP, 149 Rue de Sèvres, 75015, Paris, France

    Jawad Ziyadeh, Eric Arnaud & Federico Di Rocco

  2. INSERM U781, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France

    Martine Le Merrer & Federico Di Rocco

  3. Department of Ophthalmology, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France

    Matthieu Robert

  4. Department of Pediatric metabolic diseases, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France

    Vassili Valayannopoulos

Authors
  1. Jawad Ziyadeh
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  2. Martine Le Merrer
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  3. Matthieu Robert
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  4. Eric Arnaud
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  5. Vassili Valayannopoulos
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  6. Federico Di Rocco
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Correspondence to Jawad Ziyadeh.

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Ziyadeh, J., Le Merrer, M., Robert, M. et al. Mucopolysaccharidosis type I and craniosynostosis. Acta Neurochir 155, 1973–1976 (2013). https://doi.org/10.1007/s00701-013-1831-9

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  • DOI: https://doi.org/10.1007/s00701-013-1831-9

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