Evaluation and management of patients with syndromic craniosynostosis associated with hydrocephalus

• Grant number: 22/14442-4
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: February 01, 2023
• End date: September 30, 2024
• Field of knowledge: Health Sciences - Medicine - Surgery
• Principal Investigator: Enrico Ghizoni
• Grantee: Letícia Mansano de Souza
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Introduction: Craniosynostosis is characterized by the premature closure of one or more cranial sutures, which results in a cranial or craniofacial deformity and varying degrees of volumetric disproportion between the skull and the brain. The treatment of patients with craniosynostosis is mainly surgical, requiring a longitudinal follow-up of the patient. These patients may develop hydrocephalus, which is associated with flow obstruction (tight posterior fossa that leads to chronic herniation of the cerebellar tonsils and obstruction of the foramen magnum) and impaired CSF absorption (due to venous hypertension), since both are related to skull deformity or disorders independent of craniosynostosis. It is essential to define the most appropriate time and therapy for patients with craniosynostosis associated with hydrocephalus in order to achieve successful treatment. However, the pathophysiology and clinical evolution of hydrocephalus in this population of patients are not yet elucidated, consequently the need for treatment and the method to be used are not.Justification:. According to the complexity and importance of the topic presented, associated with the fact that Hospital Sobrapar together with Hospital de Clínicas of UNICAMP are a national reference in the treatment of patients with Craniofacial Syndromes and we have one of the largest if not the largest casuistry of patients in Brazil, this study will contribute to detail the evolution of hydrocephalus in these patients, the incidences of hydrocephalus and the need for treatment, analyze neuroimaging and correlate with the pathophysiology of hydrocephalus. In this way, the present study will contribute to personalized, efficient and safe decision making in such a group of patients.Objectives: To describe the clinical course and to investigate, through neuroimaging techniques, the pathophysiology of patients diagnosed with craniosynostosis associated with hydrocephalus.Methods: The present study, with a retrospective, non-randomized cohort design, aims to follow the evolution of patients diagnosed with craniosynostosis, with Crouzon, Pfeifer, Saerthre-Chotzen, Apert Syndromes with complex craniosynostosis, whether or not submitted to surgical procedures for treatment of craniosynostosis and followed up and at the Hospital de Clínicas (HC) of the State University of Campinas (UNICAMP) and at the Sobrapar Hospital in Campinas.Keywords: craniosynostosis; hydrocephalus.