Abstract |
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.
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Authors | Amani AlBakri, Mohammad Karaoui, Fowzan S Alkuraya, Arif O Khan |
Journal | Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
(J AAPOS)
Vol. 19
Issue 6
Pg. 577-9
(Dec 2015)
ISSN: 1528-3933 [Electronic] United States |
PMID | 26691049
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved. |
Chemical References |
- Ryanodine Receptor Calcium Release Channel
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Topics |
- Blepharoptosis
(congenital, genetics)
- Child
- Child, Preschool
- Consanguinity
- Female
- Genes, Recessive
- Humans
- Male
- Malignant Hyperthermia
(diagnosis, genetics)
- Mutation
- Radiography
- Ryanodine Receptor Calcium Release Channel
(genetics)
- Sacrum
(abnormalities)
- Scoliosis
(diagnostic imaging, genetics)
- Siblings
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