TY  - JOUR
A1  - Göhring, Marie Helen
A1  - Choorapoikayil, Suma
A1  - Zacharowski, Kai
A1  - Messroghli, Leila
T1  - Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery
T2  - BMC anesthesiology
N2  - 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.
KW  - Case report
KW  - Nicolaides-Baraitser syndrome
KW  - Surgery
KW  - Anaesthesia
Y1  - 2021
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/63688
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-636886
SN  - 1471-2253
N1  - Open Access funding enabled and organized by Projekt DEAL.
N1  - The peer review history for this article is available at https://bmcanesthesiol.biomedcentral.com/articles/10.1186/s12871-021-01380-z/peer-review.
VL  - 21
IS  - 162
SP  - 1
EP  - 3
PB  - BioMed Central
CY  - [S.l.]
ER  -