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

oleh: Meshari Almutairi, Tariq Raina, Abdullah Alobaid

Format: Article
Diterbitkan: Elsevier 2021-12-01

Deskripsi

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.