Anesthetic Management of an Infant With Kleefstra Syndrome During Direct Laryngoscopy and Rigid Bronchoscopy: A Case Report

Kleefstra syndrome (KS) is an autosomal dominant disorder caused by a chromosomal deletion at 9q34.3 resulting in pathogenic variants of the gene that codes for the enzyme, euchromatin histone methyltransferase 1 (EHMT1). KS is a rare, yet clinically relevant congenital disorder for anesthesiologist...

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Bibliographic Details
Published inA&A practice Vol. 14; no. 7; p. e01222
Main Authors Yamaguchi, Yoshikazu, D'Mello, Ajay, Willer, Brittany L, Argote-Romero, Graciela, Tobias, Joseph D
Format Journal Article
LanguageEnglish
Published United States 01.05.2020
Subjects
Anesthesia, General
Anesthetics, Inhalation
Bronchoscopy
Chromosome Deletion
Chromosomes, Human, Pair 9
Craniofacial Abnormalities
Heart Defects, Congenital
Humans
Infant
Intellectual Disability
Laryngoscopy
Male
Propofol
Sevoflurane
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Summary:Kleefstra syndrome (KS) is an autosomal dominant disorder caused by a chromosomal deletion at 9q34.3 resulting in pathogenic variants of the gene that codes for the enzyme, euchromatin histone methyltransferase 1 (EHMT1). KS is a rare, yet clinically relevant congenital disorder for anesthesiologists because of its potential for cardiac and craniofacial involvement. We present a 3-month-old patient with KS who required anesthetic care for diagnostic laryngoscopy and rigid bronchoscopy. The end-organ effects of KS are reviewed and our anesthetic care presented.
ISSN:2575-3126
DOI:10.1213/XAA.0000000000001222