Journal of plastic surgery and hand surgery · 2025
Prevalence and treatment outcomes of hydrocephalus among children with craniofacial syndromes.
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Jönsson Saga, Nilsson Daniel, Tarnow Peter, Maltese Giovanni, Bhatti-Søfteland Madiha, Kölby Lars, Hallén Tobias
Аннотация
INTRODUCTION: Hydrocephalus is more common in patients with craniofacial syndromes (CS) relative to non-syndromic craniosynostosis, and the optimal management is challenging. This study examined the prevalence and treatment outcomes of hydrocephalus among children with CS.
MATERIALS AND METHODS: We performed a retrospective review of medical records for all children with established CS and registered in the Gothenburg Craniofacial Registry between 1975 and 2022. This review included analyses of data regarding patient demographics, radiological imaging, hydrocephalus treatment modalities, and shunt revisions.
RESULTS: Eligible patients (n = 193) included those with CS, including Pfeiffer (n = 13), Crouzon (n = 57), Apert (n = 49), Muenke (n = 25), and Saethre-Chotzen (n = 49) syndromes. A total of 22 patients (11.4%) presented hydrocephalus requiring treatment [Pfeiffer, n = 8 (61.5%); Crouzon, n = 13 (22.8%); and Apert, n = 1 (2.0%)]. Nineteen (9.8%) patients underwent ventricular shunt insertion, and three (1.6%) underwent endoscopic third ventriculostomy as a first procedure. None of the Muenke or Saethre-Chotzen patients required hydrocephalus treatment. Seventeen (85%) patients with shunts required revision mainly due to shunt obstruction. Pfeiffer patients had the highest risk of both developing hydrocephalus requiring treatment and needing shunt revision (p < 0.001 and p = 0.004, respectively). Approximately 40% of patients with Pfeiffer, Crouzon, or Apert presented ventriculomegaly not requiring treatment.
CONCLUSIONS: Hydrocephalus requiring treatment is common in Pfeiffer and Crouzon patients but rare in Apert, Muenke, or Saethre-Chotzen syndrome. Shunt treatment is often associated with complications that require revisions, emphasizing the importance of distinguishing non-progressive ventriculomegaly from hydrocephalus requiring treatment.
MATERIALS AND METHODS: We performed a retrospective review of medical records for all children with established CS and registered in the Gothenburg Craniofacial Registry between 1975 and 2022. This review included analyses of data regarding patient demographics, radiological imaging, hydrocephalus treatment modalities, and shunt revisions.
RESULTS: Eligible patients (n = 193) included those with CS, including Pfeiffer (n = 13), Crouzon (n = 57), Apert (n = 49), Muenke (n = 25), and Saethre-Chotzen (n = 49) syndromes. A total of 22 patients (11.4%) presented hydrocephalus requiring treatment [Pfeiffer, n = 8 (61.5%); Crouzon, n = 13 (22.8%); and Apert, n = 1 (2.0%)]. Nineteen (9.8%) patients underwent ventricular shunt insertion, and three (1.6%) underwent endoscopic third ventriculostomy as a first procedure. None of the Muenke or Saethre-Chotzen patients required hydrocephalus treatment. Seventeen (85%) patients with shunts required revision mainly due to shunt obstruction. Pfeiffer patients had the highest risk of both developing hydrocephalus requiring treatment and needing shunt revision (p < 0.001 and p = 0.004, respectively). Approximately 40% of patients with Pfeiffer, Crouzon, or Apert presented ventriculomegaly not requiring treatment.
CONCLUSIONS: Hydrocephalus requiring treatment is common in Pfeiffer and Crouzon patients but rare in Apert, Muenke, or Saethre-Chotzen syndrome. Shunt treatment is often associated with complications that require revisions, emphasizing the importance of distinguishing non-progressive ventriculomegaly from hydrocephalus requiring treatment.