Mucopolysaccharidosis Type i and Craniosynostosis

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Journal Title, Volume, Page: 
Acta Neurochir (2013) 155:1973–1976
Year of Publication: 
Jawad Ziyadeh
Martine Le Merrer
Matthieu Robert
Eric Arnaud
Vassili Valayannopoulos
Federico Di Rocco
Preferred Abstract (Original): 

Mucopolysaccharidosis type-I is caused by a deficiencyof the lysosomal enzyme α-L-iduronidase, resulting ingradual deposition of glycosaminoglycans in multiple bodyorgans, 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 girlpresented initially with macrocrania. On clinical and radiologicalexaminations we noted a scaphocephaly with dysmorphicfacial features of MPS confirmed later on. Intracranial hypertensionwas documented at fundoscopy (papilloedema) andICP monitoring, and then surgically treated. This associationof scaphocephaly and MPS-I highlights the importance of ameticulous physical examination performed by craniofacial,metabolic and ophthalmologic teams

DOI : 10.1007/s00701-013-1831-9

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