Perioperative Concerns Of A Patient With Escobar Syndrome For Ocular Surgery

Sir, Escobar syndrome or multiple pterygium syndrome is a rare autosomal recessive disorder characterised by multiple pterygia in the cervical, antecubital and popliteal region, craniofacial dysmorphism, growth retardation and spine deformity.[1] Associated problems such as kyphoscoliosis, rib fusion, pectus excavatum, pulmonary hypoplasia, cardiac defects and risk of malignant hyperthermia make anaesthetic management challenging.[23] It is unique as airway management becomes progressively more difficult with increasing age as deformity of the airway by pterygia and contractures increase with age. We describe the anaesthetic management of a 6-year-old child with Escobar syndrome for nasolacrimal duct syringing and probing. Written informed consent to publish this case was obtained from the child's guardians. A 6-year-old (20 kg, 134 cm) child presented in the ophthalmology day care for nasolacrimal duct obstruction for syringing and probing. He was born of nonconsanguineous marriage as post-dated (10 months' gestation) child through normal vaginal delivery. He had delayed cry, delayed milestones and history of snoring. He was second in birth order and none other siblings had any such association. Other manifestations of the syndrome were growth retardation, corneal nebular spots, nasolacrimal duct fistula, short neck with webbing and limited extension [Figure 1a], micrognathia, campylodactyly, mandibular hypoplasia, bilateral fingers and toes contractures and bilateral axillary pterygium. He had associated scoliosis which was in the mid to lower thoracic region and of moderate grade in severity [Figure 1b]. Echocardiography showed tricuspid leaflet prolapse, trivial tricuspid regurgitation and mildly dilated aortic root. Spine radiographs showed segmentation anomalies of cervical and lumbar spine [Figure 2a], and digital radiograph showed fixed flexion deformities [Figure 2b]. The remaining investigations were unremarkable. His vital parameters were as follows: heart rate 74/min, blood pressure 90/50 mm Hg, oxygen saturation (SpO2) 99% on room air and normal temperature. Anaesthetic breathing circuit and soda lime were changed. Difficult airway cart was kept ready. Videolaryngoscope (C-MAC) was kept standby as our back-up plan for airway management. A 22-G intravenous cannula was secured on left-hand dorsum after applying Eutectic mixture of local anaesthetics (EMLA). General anaesthesia was induced with 8% sevoflurane in 100% oxygen, and Ambu Aura 40 (Ambu Inc., USA) # 2 Laryngeal mask airway (LMA) was inserted in neutral position. Anaesthesia was maintained with sevoflurane 1.5%–2% and 50% oxygen in air on spontaneous ventilation. Injection fentanyl 20 μg i.v. and injecton paracetamol 300 mg i.v. were given for analgesia. The procedure lasted for 10 min and LMA was removed after full wakefulness. He was monitored in the postoperative care unit and the rest of the course was uneventful.Figure 1: (a) Child with micrognathia and restricted neck extension; (b) right scapula at a lower level compared with left (scoliosis)Figure 2: (a) Cervical radiograph showing cervical fusion deformity; (b) digital radiograph showing fixed flexion deformity of upper limb digitsEscobar syndrome is a rare syndrome attributed to the mutation of CHRNG gene involved in gamma (γ) subunit of the acetylcholine receptor (AChR) formation which signals between nerve and muscle cells resulting in movement. Therefore, its mutation causes foetal akinesia resulting in pterygium (webbing) formation and congenital contractures of the joints as in the index patient. The severity of gene mutation determines the severity of the condition as complete mutation of the gene can result in lethal form. Patients with Escobar syndrome present for orthopaedic surgeries (scoliosis, tendon transfer, joint surgeries, contracture release, congenital hip dislocation), plastic surgery (cleft lip/palate, syndactyly), ophthalmology surgery (ptosis) and urogenital surgeries.[2] It is characterised by pterygia (webbing) of neck, axilla, antecubital fossa, digits, popliteal and intercrural areas. Akinesia results in multiple contractures which make intravenous cannulation difficult and sometimes even noninvasive blood pressure (NIBP) application difficult. Progressive webbing and scoliosis significantly affect the capacities of the lung. Difficult airway is attributed to micrognathia, retrognathia, ankyloglossia, webbing of neck and limitation of neck extension.[1] Cervical spine stiffness and fusion mandates neck X-ray which showed segmentation abnormalities as in the index patient. Due to cervical spine fusion, we inserted LMA in neutral position. Cautious positioning in such patients with multiple contractures and scoliosis is of utmost importance to prevent injury. There are conflicting reports of associated risk of malignant hyperthermia.[4] Hence, we changed the circuit and soda lime and used temperature monitoring. Gamma subunit of AChR plays an important role in the action of muscle relaxants, hence we avoided muscle relaxants.[2] Adequate preoperative evaluation of airway preparation, musculoskeletal system and cardiovascular system is mandatory in patients with Escobar syndrome. Utilisation of LMA and avoidance of neuromuscular blockers in cases of probable mutation of acetyl choline receptor as in Escobar syndrome is of paramount importance. 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.