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Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis

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Abstract

Purpose

Posterior vault distraction osteogenesis (PVDO) has been utilized during the past 15 years to treat a variety of clinical features commonly presented by patients with Apert syndrome. The objective of this study is to determine the efficacy of PVDO in addressing both elevated intracranial pressure (ICP) and ectopia of the cerebellar tonsils (ECT) in young Apert patients. In addition, we aimed to determine the prevalence of hydrocephalus in Apert syndrome patients who underwent PVDO.

Methods

A retrospective study was made with a cohort of 40 consecutive patients with syndromic craniosynostosis (SC), previously diagnosed with Apert syndrome, who underwent PVDO between 2012 and 2022, and thereafter received at least 1 year of follow-up care. Demographic data and diagnosis, along with surgical and outcome data, were verified using medical records, clinical photographs, radiologic examination, and interviews with the parents of all cohort patients.

Results

The average patient age when PVDO was performed was 12.91 ± 10 months. The average posterior advancement distance achieved per patient was 22.68 ± 5.26 mm. The average hospital stay per patient was 3.56 ± 2.44 days. The average absolute and relative blood transfusion volumes were 98.47 ml and 17.63 ml/kg, respectively. Although five patients (14%) presented ECT preoperatively, this condition was completely resolved by PVDO in three of these five patients. One of the three patients whose ECT had completely resolved presented syringomyelia postoperatively, requiring subsequent extra dural foramen magnum decompression. All of the remaining four patients were asymptomatic for ECT for at least 1 year of follow-up, and none of these four patients required any additional treatments to address ECT. Two patients presented hydrocephalus requiring ventriculoperitoneal shunt placement.

Conclusions

This study demonstrates that PVDO both reduces diagnosed elevated ICP symptoms and is partially effective in treating ECT in Apert syndrome patients. Hydrocephalus in Apert syndrome is an uncommon feature. The effectiveness of PVDO in addressing hydrocephalus is uncertain.

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Data availability

No datasets were generated or analyzed during the current study.

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Authors and Affiliations

  1. Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Av. Adolpho Lutz, 100, Caixa Postal: 6028, Campinas, São Paulo, 13084-880, Brazil

    Cassio Eduardo Raposo-Amaral, Marcela Vincenzi-Lemes, Mateus L. Medeiros, Cesar Augusto Raposo-Amaral & Enrico Ghizoni

  2. Department of Neurology, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil

    Cassio Eduardo Raposo-Amaral & Enrico Ghizoni

Authors
  1. Cassio Eduardo Raposo-Amaral
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  2. Marcela Vincenzi-Lemes
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  3. Mateus L. Medeiros
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  4. Cesar Augusto Raposo-Amaral
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  5. Enrico Ghizoni
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Contributions

CER-A: wrote the manuscript, revised the data. MV-L: collected and revised the data. MLM: collected and revised the data. CAR-A: revised the data and the manuscript. EG: revised the data and the manuscript.

Corresponding author

Correspondence to Cassio Eduardo Raposo-Amaral.

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Ethics approval and consent to participate

All subjects enrolled in this study completed consent forms signed by the patients’ parents in accordance with the Declaration of Helsinki of 1975, as amended in 1983.  Local institutional research ethics board approval was obtained for this study.

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Raposo-Amaral, C.E., Vincenzi-Lemes, M., Medeiros, M.L. et al. Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis. Childs Nerv Syst (2024). https://doi.org/10.1007/s00381-024-06436-2

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