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Chiari malformation type 1, is there a familial transmission? Case report and literature review
oleh: Meshari Almutairi, Tariq Raina, Abdullah Alobaid
Format: | Article |
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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.