ArticleJA clinical reports2020
Spinal anesthesia in a patient with Schwartz-Jampel syndrome.
Article in JA clinical reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- Perioperative Management of Presumed Schwartz-Jampel Syndrome During Complex Pediatric Spinal Fusion: A Case Report.Case reports in anesthesiology · 2026Article
- Anaesthetic management of a child with Schwartz-Jampel syndrome for botox injection - A case study.Indian journal of anaesthesia · 2023Article
- Schwartz-Jampel syndrome is a high risk of difficult airway management rather than malignant hyperthermia.Saudi journal of anaesthesiaArticle
- Peripheral regional anaesthesia in an adult with Schwartz-Jampel syndrome.Anaesthesia reportsArticle
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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 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.
conclusionSpinal anesthesia may be an effective and safe technique for patients with SJS and it may.
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Registered trials
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