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

Authors
  • Goehring, Marie1
  • Choorapoikayil, Suma1
  • Zacharowski, Kai1
  • Messroghli, Leila1
  • 1 University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, Frankfurt am Main, 60590, Germany , Frankfurt am Main (Germany)
Type
Published Article
Journal
BMC Anesthesiology
Publisher
Springer (Biomed Central Ltd.)
Publication Date
May 26, 2021
Volume
21
Issue
1
Identifiers
DOI: 10.1186/s12871-021-01380-z
Source
Springer Nature
Keywords
License
Green

Abstract

BackgroundNicolaides-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 presentationA 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.ConclusionsThe 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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