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
Though the foramen magnum (FM) is often altered in complex craniosynostosis, no study analysed the FM dimensions in patients with brachycephaly specifically.
The FM area is significantly altered in FGFR3-related brachycephaly, whereas in patients with Saethre–Chotzen syndrome (TWIST-1 mutation) the mean FM area is similar to control group. This study confirms the importance of FGFRs on FM growth whereas TWIST-1 seems to have a minor role.