Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery

  • Background: Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and leads to a wide range of symptoms including microcephaly, distinct facial features, recurrent seizures, and severe mental retardation. Until now, less than 100 cases have been reported. Case presentation: A 22-month old male infant with NCBRS underwent elective cleft palate surgery. The anaesthetists were challenged by the physiological condition of the patient: narrow face, very small mouth, mild tachypnea, slight sternal retractions, physical signs of partial monosomy 9p, and plagiocephalus, midface hypoplasia, V-shaped cleft palate, enhanced muscular hypotension, dysplastic kidneys (bilateral, estimated GFR: approx. 40 ml/m2), nocturnal oxygen demand, and combined apnea. In addition, little information was available about interaction of the NCBRS displayed by the patient and anaesthesia medications. Conclusions: The cleft palate was successfully closed using the bridge flap technique. Overall, we recommend to perform a trial video assisted laryngoscopy in the setting of spontaneous breathing with deep inhalative anaesthesia before administration of muscle relaxation to detect any airway difficulties while remaining spontaneoues breathing and protective reflexes.

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Author:Marie Helen GöhringORCiDGND, Suma ChoorapoikayilGND, Kai ZacharowskiORCiDGND, Leila MessroghliGND
Parent Title (English):BMC anesthesiology
Publisher:BioMed Central
Place of publication:[S.l.]
Document Type:Article
Date of Publication (online):2021/05/26
Date of first Publication:2021/05/26
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2022/10/24
Tag:Anaesthesia; Case report; Nicolaides-Baraitser syndrome; Surgery
Page Number:3
First Page:1
Last Page:3
Open Access funding enabled and organized by Projekt DEAL.
The peer review history for this article is available at
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):License LogoCreative Commons - Namensnennung 4.0