Spinal anesthesia in a patient with Schwartz–Jampel syndrome

• Main Authors: Osama Shaalan, Mahmoud Daoud, Ashraf EL-Molla, Rashed Al-Otaibi, Abdulaleem Alatassi
• Format: Article
• Language: English
• Published: SpringerOpen 2020-07-01
• Series: JA Clinical Reports
• Subjects: Schwartz, Jampel Syndrome, Osteochondrodysplasias, Myotonia, Spinal Anesthesia
• Online Access: http://link.springer.com/article/10.1186/s40981-020-00357-0

Abstract Background Schwartz–Jampel syndrome (SJS) is a very rare inherited disorder characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation. SJS is caused by mutations in the gene encoding perlecan (heparan sulfate proteoglycan). Anesthetic management of these patients is challenging. The use of spinal anesthesia in these patients has not been reported. Case presentation A 14-year-old boy was scheduled for inguinal hernia and hydrocele repair. The diagnosis of SJS was based on his dysmorphic features, electromyographic (EMG) pattern and genetic testing. General anesthesia may encounter difficult airway management, resistance to muscle relaxants, or possibility of malignant hyperthermia. Regional anesthesia may be difficult or even harmful due to skeletal deformities. We report successful management of spinal anesthesia and surgery was done. The patient had an uneventful recovery and was discharged home. We describe the special precautions against pitfalls for using this technique in patients with SJS. Conclusion Spinal anesthesia may be an effective and safe technique for patients with SJS and it may