Anesthetic management in a child with Coffin Siris syndrome.

Abstract

Dear Editor, An 8-year-old boy with ARID1B-CSS Coffin Siris Syndrome (CSS) presented with left inguinal hernia for herniotomy. The child had an uneventful neonatal period but developed recurrent upper respiratory tract infection at 2 months of age requiring frequent hospitalization. He also developed an intellectual disability, hyperactivity, and seizure disorder. Evaluated as a floppy infant, genetic workup revealed ARID1B and SOX11 gene mutation associated with CSS. He had a hypoplastic fifth finger in his hands, bushy eyebrows, everted lips, coarse facies, hypertrichosis, hypotonia, micrognathia, macroglossia, and high arched palate [Figure 1].Figure 1: (a) Note bushy eyebrows, coarse facies, hypertrichosis, everted lips, macroglossia, low anterior hairline, prominent ears (b) Hypoplastic fifth finger (c) Airway secured with Size 2 i-GelOn examination, the child was anxious, aggressive, and distracted. He was premedicated with oral midazolam 30 min prior and induced with sevoflurane. After achieving end-tidal concentration of 2.5%, iv cannula was placed and airway secured with size-2 i-Gel. The patient was maintained with sevoflurane at MAC 1-1.2 and pressure support ventilation (PSV-Pro, GE Datex Ohmeda, Aspire View). No opioids or muscle relaxant was used. Ultrasound-guided ilioinguinal and iliohypogastric nerve block (IIN/IHN) was given. At the end of the surgery, i-Gel was removed deep after ascertaining adequacy of ventilation. The patient was observed for 24 h before discharge. CSS (OMIM 135900), first described by Coffin GS, is a rare genetic condition caused by mutations in the ARID1B gene with a prevalence of <1:100000 and equal male-female preponderance.[1,2] Known as “fifth digit syndrome,” CSS is characterized by moderate to severe intellectual disability, absent or hypoplastic terminal phalanx of the fifth digit, craniofacial abnormalities, coarse facies, hypertrichosis, hypotonia, short neck, irregular and protruding teeth, wide nose with low nasal bridge, macroglossia, micrognathia, and high arched palate.[2] These features lead to feeding difficulties, recurrent respiratory tract infections during infancy owing to micro-aspirations, and pose a risk of transient apnea/laryngospasm in the perioperative period. Combined with facial dysmorphism, these factors present a difficult airway scenario. Awake flexible fiber-optic intubation is the best approach but possible in compliant patients only. In our case, the child was uncooperative and aggressive due to mental retardation, and the surgery did not necessitate tracheal intubation. Therefore, we used supra-glottic airway (i-Gel) while preserving spontaneous respiration. Numerous case reports have described the genotypic and phenotypic profile of CSS; however, few have described anesthetic management of patients with CSS, the details of which are mentioned in Table 1.[3–5] Spinal abnormalities such as spina bifida, scoliosis, etc., have been associated with CSS. Although no such abnormalities were found in our patient, we did not contemplate neuraxial block in our patient as IIN/IHN has proven to be equal or more efficacious and safer than caudal/central neuraxial block. Moreover, opioid-free anesthesia led to a faster and smoother recovery.Table 1: Airway management Techniques reported in patients with CSSCSS is a rare congenital syndrome with distinct craniofacial anomalies and mental retardation presenting a challenging scenario to the anesthesiologist in the perioperative period. Detailed insight of the child’s condition, thorough preoperative workup, and difficult airway preparedness are essential. Supra-glottic airway device presents an important tool in the armamentarium of anesthesiologist and a viable and easy alternative to flexible fiber-optic intubation for successful management of such cases. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.