• A&A practice · Apr 2020

    Case Reports

    Anesthetic Management for a Patient With MECP2 Duplication Syndrome: A Case Report.

    • Yuen-Ling Janíce Choi, Tsz-Kin Marcus Wong, and Kwok Keung Daniel Ng.
    • From the Departments of Anesthesiology.
    • A A Pract. 2020 Apr 1; 14 (6): e01202.

    AbstractMethyl CpG binding protein 2 (MECP2) duplication syndrome is a rare X-linked genetic disease. Core phenotypes include infantile hypotonia, developmental delay, and minimal speech with mild dysmorphic features. Many have refractory epilepsy and recurrent infections, which are the leading causes of mortality. This article presents a case of a patient with MECP2 duplication syndrome who required general anesthesia for respiratory workup and reviews the anesthetic management for these patients, which includes induction technique, choice of drugs, and other major anesthetic concerns.

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