General anesthesia of a Japanese infant with Barber-Say syndrome: a case report
© The Author(s) 2016
Received: 29 December 2015
Accepted: 28 March 2016
Published: 2 June 2016
Barber-Say syndrome (BSS) is a very rare congenital disorder characterized by macrostomia, cutis laxa, and other features. We report our experience of performing general anesthesia on a Japanese child with BSS.
A bilateral repair of the corners of the mouth under general anesthesia was planned for an 18-month-old male with macrostomia; the child was 75 cm in height and weighed 9.9 kg. As insertion of the peripheral intravenous catheter was difficult, it was inserted before the surgery by a pediatrician. The patient wore a mask and was ventilated manually after loss of consciousness with intravenous anesthesia. A mask for adults provided a superior fit and was effective in preventing air leakage from the corners of the mouth. After rocuronium was administered, the larynx was spread with a Macintosh laryngoscope. There was no laryngeal anatomical abnormality, and tracheal intubation was readily possible. The operation was completed without incident. Stiffening of both arms occurred for several seconds one hour after the operation ended, but the patient did not develop other complications.
Mask ventilation and the insertion of an intravenous catheter may be difficult in the general anesthesia of patients with BSS, and anesthetic management requires caution.
KeywordsBarber-Say syndrome Macrostomia Cutis laxa General anesthesia
Barber-Say syndrome (BSS) is characterized by unique congenital malformations, including macrostomia, redundant skin, and other features . It is a very rare syndrome, and only several dozen cases have been reported thus far, no previous report on the general anesthesia of a patient with BSS has been published to our knowledge. Following our experience of performing plastic surgery under general anesthesia for a child with BSS, we report the details.
Management of general anesthesia
BSS was reported first in 1986 by Say, Barber, et al. . Only several dozen people have been reported as having BSS previously, and our patient is the first case of BSS in Japan . Only one case suggested that BSS was inherited as an autosomal-recessive trait because the parents were consanguineous ; however, a recent study revealed that autosomal-dominant TWIST2 mutations cause BSS by inducing protean effects on the transcription factor’s DNA binding . In our patient, a G-banded chromosome analysis revealed a 46, XY karyotype. In the past, physical and mental retardation [3, 6, 7] and transient hypogammaglobulinemia  were reported. Otherwise, complications of congenital cardiac anomaly, lung disturbance, or laryngeal stenosis leading to difficult intubation have not been demonstrated in BSS.
It is necessary to prepare beforehand for difficulty in maintaining an airway during the induction of general anesthesia in patients with BSS. Generally, the use of a supraglottic device (SGD) and bronchial fiberscope have been shown to be effective for airway maintenance in pediatric anesthesia when there is concern for difficult airway . Jain et al.  reported that covering both corners of the mouth with surgical paper tape was effective in preventing air leakage from the mouth in pediatric anesthesia with macrostomia. On the other hand, there is a report that it was effective to use an airway catheter together with a SGD at the induction of anesthesia in patients with macrostomia . During anesthesia in our case, air leakage from both corners of the mouth that occurred with a mask for toddlers disappeared with a mask for adults was used, suggesting that it is important to confirm that the size of the mask is large enough to cover the corners of the mouth during the preoperative physical examination.
Difficulty inserting an intravenous catheter because of redundant skin and hypertrichosis on the limbs would be a common problem in general anesthesia for patients with BSS. In our case, senior anesthesiologists tried to insert an additional intravenous catheter, but the attempts ended in failure. It seems to be essential that a pediatric anesthetic expert insert an intravenous catheter before the induction of general anesthesia to avoid slow induction in patients with BSS.
After surgery, attacks of stiffening of both arms occurred for a short time. Epilepsy waves were later detected by electroencephalography, and these attacks might have been due to epilepsy. However, epileptogenic effects have often been reported in general anesthesia with sevoflurane , and would not be able to be distinguished from a characteristic epilepsy attack. It is difficult to judge at present which volatile and intravenous anesthetics are most appropriate for the general anesthesia of patients with BSS, but it might be reasonable to avoid a volatile anesthetic in children with BSS who have experienced convulsions in the past.
This is the first report of general anesthesia of a patient with BSS. It would be expected that accumulating cases about the general anesthesia of patients with BSS, including the choice of appropriate general anesthetics and better airway management, be performed in the future to ensure the perioperative safety of patients with BSS.
We performed general anesthesia on a child with BSS. In the general anesthesia of patients with BSS, it is necessary to note air leakage during mask ventilation and difficulty in the insertion of a peripheral intravenous catheter.
Written informed consent was obtained from the patient’s parents for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
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