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Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

2015; Elsevier BV; Volume: 19; Issue: 6 Linguagem: Inglês

10.1016/j.jaapos.2015.08.006

1528-3933

Amani AlBakri, Mohammad Karaoui, Fowzan S. Alkuraya, Arif O. Khan,

Connexins and lens biology

Malignant hyperthermia susceptibility is a rare pharmacogenic disorder of skeletal muscle calcium regulation caused by mutations in the skeletal muscle ryanodine receptor 1 gene (RYR1). It is important to identify children who are candidates for ophthalmic surgery who might harbor RYR1 mutations because intraoperative malignant hyperthermia is potentially lethal. We report 2 siblings with congenital ptosis and scoliosis who were considered for ptosis surgery but were found to harbor underlying recessive RYR1 mutations.