Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.

ABSTRACT:

Background

The mucopolysaccharidoses are multisystem lysosomal storage diseases characterized by extensive skeletal deformities, including skull abnormalities. The objective of this study was to determine the incidence of craniosynostosis in the different mucopolysaccharidosis (MPS) types and its clinical consequences.

Methods

In a prospective cohort study spanning 10 years, skull imaging and clinical evaluations were performed in 47 MPS patients (type I, II, VI, and VII). A total of 215 radiographs of the skull were analyzed. The presence and type of craniosynostosis, the sutures involved, progression over time, skull shape, head circumference, fundoscopy, and ventriculoperitoneal shunt (VPS) placement data were evaluated.

Results

Craniosynostosis of at least one sut

SUBMITTER: Oussoren E 

PROVIDER: S-EPMC6326980 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature