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- Andrew Ligsay, Marwa El-Deeb, Maria J Salcedo-Arellano, Nina Schloemerkemper, Jeremy S Grayson, and Randi Hagerman.
- Davis Medical Center, Medical Investigation of Neurodevelopmental Disorders (MIND) Institute.
- J Neurosurg Anesthesiol. 2019 Jul 1; 31 (3): 285290285-290.
AbstractThe fragile X premutation is characterized by a repeat expansion mutation (between 55 to 200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene, which leads to RNA toxicity at the cellular level. This may cause patients with the premutation to be particularly susceptible to environmental toxins, which could manifest clinically as new or worsening ataxia and memory loss. Multiple published case reports have also suggested general anesthetics as a potential toxin leading to negative side effects when used in patients with fragile X-associated disorders. However, at this time, there have been no formal research studies regarding cellular changes or long-term clinical manifestations after general anesthetic use in this population. This review aims to highlight previous case reports regarding sequelae related to general anesthetic use in fragile X-associated disorders. New case reports related to this phenomenon are also included.
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