Multidisciplinary Approach to the Treatment of a Patient With Chondrodystrophic Myotonia (Schwartz-Jampel vel Aberfeld Syndrome) Case Report and Literature Review

作者：Nessler Michal^*; Puchala Jacek; Kwiatkowski Stanislaw; Kobylarz Krzysztof; Mojsa Izabela; Chrapusta Klimeczek Anna

来源：Annals of Plastic Surgery, 2011, 67(3): 315-319.

DOI：10.1097/SAP.0b013e3181fac1ec

• myotonia
• Schwartz-Jampel syndrome
• perlecan
• malignant hyperthermia

Chondrodystrophic myotonia, Schwartz-Jampel syndrome, is a rare congenital disorder, which results from disturbance in a perlecan protein synthesis. Most affected are the muscles, acting in generalized myotonia, leading to joint contractures, weird-looking mask-like face appearance, and causing vision disturbances. Also, impaired bones and cartilages result in skeletal anomalies and dental disorders. Allergic reactions to numerous drugs occur in affected individuals. Surgical treatment is risky, due to a low tolerance of anesthetics and high risk of malignant hyperthermia. In this article, a case of 17-year-old girl with Schwartz-Jampel syndrome is presented. The patient with typical syndrome debilitations underwent long diagnostic scheme and multiple treatments in order to restore acceptable appearance and function. All procedures were performed with cautious anesthesiologists' supervision. Modern diagnostic tools can improve the diagnosis rate while multidisciplinary evaluation and advanced treatment techniques can reveal symptoms, minimizing the hazard of anesthesia and improving the quality of life.

• 出版日期2011-9