Anaesthetic Considerations for General Anaesthesia in an Adult Patient with Wolf-Hirschhorn Syndrome and Kyphoscoliosis: A Case Report

Abstract

Wolf-Hirschhorn Syndrome (WHS), also known as Chromosome 4 deletion syndrome, is a rare hereditary disease with a prevalence of 1 in 50,000. It occurs due to the microdeletion of the short arm of chromosome 4, specifically the 4p16.3 domain. Patients with WHS exhibit diverse phenotypes, including growth retardation, developmental delay, congenital heart disease, and convulsions, depending on the amount of deleted genetic material. This case report focuses on a 25-year-old male who was admitted for cataract extraction and posterior chamber intraocular lens implantation. Through gene analysis, the patient was diagnosed with WHS. He exhibited micrognathia, a short neck, kyphoscoliosis, seizure disorder, and mental retardation. Additionally, he had severe kyphoscoliosis, which resulted in restrictive lung disease. These abnormalities posed significant challenges for anaesthetic management. To ensure a successful general anaesthesia, adequate preparedness for difficult airway management was crucial. A thorough cardiovascular and neuromuscular examination was conducted preoperatively to rule out associated anomalies and minimise complications. The patient’s perioperative antiepileptic cover was continued. Extubation proved challenging due to the patient’s mental retardation and restrictive lung disease. This case underscores the importance of effective anaesthetic management for patients with this rare condition undergoing cataract surgery under general anaesthesia.

Keywords

• cataract surgery
• difficult airway
• general anaesthesia
• seizure disorder