Schwartz-Jampel syndrome: report of one case.
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.
Yang
Ming-Tao
MT
Department of Pediatrics, National Taiwan University Hospital, Taipei.
Yang
Chih-Chao
CC
Chu
Li-Wen
LW
Lee
Wang-Tso
WT
Young
Chainllie
C
Wang
Peng-Jung
PJ
D002675:Child, Preschool; D005260:Female; D006801:Humans; D008012:Lidocaine / Q000627:therapeutic use*; D008801:Mexiletine / Q000627:therapeutic use*; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000188:drug therapy* / Q000503:physiopathology
D008801:Mexiletine; D008012:Lidocaine