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Background and Aims Coffin-Siris syndrome (CSS) is a rare genetic disorder, with less than 250 molecularly confirmed cases worldwide. It is characterized by growth restriction, developmental delay, craniofacial malformations, and a range of heart, gastrointestinal, genitourinary and nervous system abnormalities. These abnormalities may present an anaesthetic challenge mainly due to difficult airway management, respiratory complications and poor patient cooperation. The available literature on CSS anaesthetic approach consists of 10 case reports, with only one describing a regional anaesthesia technique.
Methods A 14-year-old female patient with CSS was scheduled for bilateral proximal tibial hemiepiphysiodesis. Preoperative evaluation was significant for developmental delay, obstructive sleep apnoea, IgA deficiency with several respiratory infections over the last year and hypertrophic cardiomyopathy. A history of doubtful delayed emergence from general anaesthesia, despite recovery of spontaneous ventilation, was present in past procedures. Physical examination revealed obesity, a short neck and macroglossia. A deep sedation was accomplished intravenously with propofol and fentanyl, and maintained with sevoflurane 1,5%, ensuring spontaneous ventilation through a laryngeal mask airway. An L3-L4 epidural block was performed with ropivacaine 0,5%. ASA standard monitoring and bispectral index were applied, and multimodal analgesia was ensured.
Results Hemiepiphysiodesis was successfully performed under the proposed anaesthetic technique, combining neuraxial anaesthesia and sedation. The perioperative period was uneventful.
Conclusions CSS patients can be challenging for the anaesthesiologist due to the syndrome’s malformation spectrum, cardiac structural disease, respiratory complications and lack of reassuring literature. Neuraxial anaesthesia may be a successful and safe approach for CSS patients in selected procedures.
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