Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. J Inherit Metab Dis 2018.
Oussoren E, Mathijssen IMJ, Wagenmakers M, Verdijk RM, Bredero-Boelhouwer HH, Van Veelen-Vincent MC, Van der Meijden JC, Van den Hout JMP, Ruijter GJG, Van der Ploeg AT, Langeveld M.
The mucopolysaccharidoses (MPSes) are multisystem lysosomal storage diseases characterized by extensive skeletal deformities, including skull abnormalities. Craniosynostosis of at least one suture was present in 77% of all 47 MPS patients. In 32% of all MPS patients premature closure of all sutures was seen. All patients with early closure had a more severe MPS phenotype, both neuronopathic (MPS I,II) and non-neuronopathic (MPS VI). Because of symptomatic increased intracranial pressure, a shunt was placed in six patients, with craniosynsotosis as a likely or certain causative factor for the increased pressure in four patients. One patient underwent cranial vault expansion because of severe craniosynostosis. Skull growth and signs and symptoms of increased intracranial pressure should be monitored in both neuronopathic and non-neuronopathic forms of MPS.