title: Mucopolysaccharidosis type I and craniosynostosis.
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.
authors.affiliation: Craniofacial Unit, Department of Pediatric Neurosurgery, Hôpital Universitaire Necker-Enfants Malades, APHP, 149 Rue de Sèvres, 75015, Paris, France, jawad.ziyadeh@neurochirurgie.fr.
authors.forename: Jawad
authors.initials: J
authors.lastname: Ziyadeh
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Matthieu
authors.initials: M
authors.lastname: Robert
authors.forename: Eric
authors.initials: E
authors.lastname: Arnaud
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: Federico
authors.initials: F
authors.lastname: Di Rocco
mesh_terms: D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis / Q000601:surgery*; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000172:deficiency*; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000201:enzymology / Q000601:surgery*; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome
chemical_list: D007068:Iduronidase