Abstract
BackgroundSchwartz–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 presentationA 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.ConclusionSpinal anesthesia may be an effective and safe technique for patients with SJS and it may
Highlights
Schwartz–Jampel syndrome (SJS) is a very rare inherited disorder characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation
Chondrodystrophic myotonia or osteo-chondro-muscular dystrophy was first described by Catel in 1951 in a German publication [1]
It is characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation
Summary
Chondrodystrophic myotonia or osteo-chondro-muscular dystrophy was first described by Catel in 1951 in a German publication [1] It is characterized by multiple skeletal deformities, limited joint mobility, micrognathia, blepharophimosis, myotonia, and growth retardation. These features comprise Schwartz–Jampel syndrome (SJS) reported by Oscars Schwartz, a pediatrician, and Robert Jampel, an ophthalmologist, in two siblings in 1962 [2]. Patient was monitored in postanesthesia care unit for 3 h, and when the motor block was resolved at 100 min, he was transferred to the surgical ward.
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