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

Abstract

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.

Keywords

• Chiari malformation
• Familial
• Genetic
• Posterior fossa
• Cerebellum
• Surgery