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Child's Nervous System
Published in: Child's Nervous System 5/2016

01-05-2016 | Original Paper

Central nervous system and cervical spine abnormalities in Apert syndrome

Authors: Omar Breik, Antony Mahindu, Mark H. Moore, Cindy J. Molloy, Stephen Santoreneos, David J. David

Published in: Child's Nervous System | Issue 5/2016

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Abstract

Purpose

Apert syndrome characterized by acrocephalosyndactyly is a rare autosomal dominant congenital malformation with a prevalence of 1/65,000 births. With an extensive range of phenotypic and developmental manifestations, its management requires a multidisciplinary approach. A variety of craniofacial, central nervous system (CNS), and cervical spine abnormalities have been reported in these patients. This study aimed to determine the incidence of these CNS abnormalities in our case series.

Methods

Retrospective review of Australian Craniofacial Unit (ACFU) database for Apert patients was performed. Data collected that included demographics, place of origin, age at presentation, imaging performed, and images were reviewed and recorded. Where available, developmental data was also recorded.

Results

Ninety-four patients seen and managed at the ACFU had their CNS and cervical spine abnormalities documented. The main CNS abnormalities were prominent convolutional markings (67 %), ventriculomegaly (48 %), crowded foramen magnum (36 %), deficient septum pellucidum (13 %), and corpus callosum agenesis in 11 %. Major C-spine findings were present in 50.8 % of patients and included fusion of posterior elements of C5/C6 (50 %) and C3/4 (27 %). Multilevel fusion was seen in 20 %. Other abnormalities were C1 spina bifida occulta (7 %) and atlanto-axial subluxation (7 %).

Conclusion

Multiple CNS and cervical spine (c-spine) abnormalities are common in Apert syndrome. The significance of these abnormalities remains largely unknown. Further research is needed to better understand the impact of these findings on growth, development, and treatment outcomes.
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Metadata
Title
Central nervous system and cervical spine abnormalities in Apert syndrome
Authors
Omar Breik
Antony Mahindu
Mark H. Moore
Cindy J. Molloy
Stephen Santoreneos
David J. David
Publication date
01-05-2016
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 5/2016
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-016-3036-z

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