A relação genética, sindrômica e familiar dos cistos aracnoides intracranianos: proposição de protocolo para triagem.

Abstract

Intracranial Arachnoid Cysts (IACs) represent benign cystic formations that emerge within the subarachnoid space, whose etiology remains partially unknown. Although exploration of different pathophysiological mechanisms in the literature, such as trauma, infections, and inflammatory processes, recent studies have associated IACs with a genetic origin. In this study, we aim to investigate the relationship between IACs and genetics, aiming to develop a protocol for clinical screening of patients and families susceptible to these cysts. An integrative review was conducted to expose articles correlating IACs with genetic alterations or positive family history, proposing a screening and management method for patients suspected of IAC based on prevalent findings in the literature. The integrative review followed well-established methodological guidelines and revealed the scarcity of studies with the proposed objectives, initially identifying 797 articles, of which only 56 were included in the analysis after the application of eligibility criteria. Among these works, 210 patients with IAC were described, of whom presented genetic disorders or positive family history. Analysis of the findings revealed a predominance of pediatric patients with IAC and a similar proportion between male and female sexes. The most common clinical symptoms included hydrocephalus, mass effects, motor disturbances, and seizures, often associated with specific genetic syndromes. The identified genetic alterations were numerous and heterogeneous, involving a variety of genes, chromosomes, and proteins. This diversity makes it challenging to establish a genetic pattern for IACs, highlighting the importance of clinical and genetic screening. An evidence-based screening flowchart was proposed, emphasizing the investigation of specific symptoms, family history, and genetic syndromes, followed by imaging studies and, if necessary, genetic analysis. This protocol aims to guide early clinical management of patients and families suspected of IAC, aiming to prevent complications and facilitate early diagnosis and treatment. Further research is needed to elucidate genetic issues and the effectiveness of the proposed method, considering the challenges and biases inherent in bibliographic research. It is hoped that this study will contribute to a better understanding and approach to intracranial arachnoid cysts, aiming to improve clinical outcomes and quality of life for patients and their families.