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A A Pract ; 14(6): e01202, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32784320

ABSTRACT

Methyl 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.


Subject(s)
Anesthetics , Mental Retardation, X-Linked , Humans , Methyl-CpG-Binding Protein 2/genetics , Syndrome
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