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

Title

Acta Neurochir (2013) 155:1973–1976

Publisher

Springer Verlag

Publisher Country

Germany

Indexing

Scopus

Impact Factor

None

Publication Type

Both (Printed and Online)

Volume

--

Year

2013

Pages

--