Fatal Case of Exercise Collapse Associated with Sickle Cell Trait with Novel Underlying LAMA2 Mutation.
Am J Forensic Med Pathol
; 45(2): 177-181, 2024 Jun 01.
Article
em En
| MEDLINE
| ID: mdl-38261548
ABSTRACT
ABSTRACT Sickle cell trait is typically thought to be an asymptomatic carrier state, but it is rarely associated with exertional rhabdomyolysis in cases termed Exercise Collapse Associated with Sickle Cell Trait (ECAST). In a subset of these cases, underlying disease contributes to the development and/or severity of the ensuing medical complications. We describe the first ever case of ECAST reported in a previously asymptomatic, multiply deployed, highly physically active service member with an underlying heterozygous LAMA2 mutation. Moreover, the mutation identified via whole exome sequencing is a novel, likely pathogenic variant that has yet to be described in the literature.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Rabdomiólise
/
Traço Falciforme
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Laminina
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Mutação
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article