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Schwartz-Jampel syndrome: report of one case
Ming-Tao Yang1, Chih-Chao Yang, Li-Wen Chu
1Department of Pediatrics, National Taiwan University Hospital, Taipei.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi
|September 20, 2002
Abstract:
We report a case of Schwartz-Jampel syndrome in a 2-year-9-month-old Taiwanese girl and her clinical response to treatment. She had a history of generalized muscle stiffness and hypertrophy since birth. Clinical and electromyographic myotonia were noted. Other clinical features included short stature, unusual facial appearance, ophthalmoplegia, elbow joint contractures, and developmental hip dysplasia. Muscle stiffness and myotonia improved after infusion of lidocaine. She then received oral mexiletine and the symptoms significantly improved.