2020
DOI: 10.1213/xaa.0000000000001294
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Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning

Abstract: We report a case of Xp21 deletion syndrome, a contiguous gene syndrome associating glycerol kinase deficiency, Duchenne muscular dystrophy, and congenital adrenal hypoplasia. This results in a contraindication to the use of all halogenated agents and of propofol. We used regional anesthesia combined with dexmedetomidine and ketamine. Previously, the patient had received inadvertently a propofol-based total intravenous anesthesia (TIVA) with no clinical side effects. We were unfortunately unable to document the… Show more

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Cited by 3 publications
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