Chiari malformation type 1, is there a familial transmission? Case report and literature review

Autor: Meshari Almutairi, Tariq Raina, Abdullah Alobaid
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Interdisciplinary Neurosurgery, Vol 26, Iss , Pp 101342- (2021)
Druh dokumentu: article
ISSN: 2214-7519
DOI: 10.1016/j.inat.2021.101342
Popis: Chiari malformations have long been considered sporadic conditions, without a heritable etiology. However, there have been a number of case reports identifying familial aggregation and clustering of Chiari malformation type 1, suggesting a genetic basis.The authors report a 53 years old mother and 32 years old daughter duo, who presented with symptomatic Chiari malformation type 1 suggesting familial transmission. A literature review was conducted and familial Chiari malformation type 1 has been increasingly reported, however, genetic data are still under investigation. Clinicians need to be aware of familial Chiari malformation type 1 that could help in early identification and intervention for family members at risk, allowing for improved patient outcome.
Databáze: Directory of Open Access Journals