Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation

Özet

Schwartz Jampel syndrome was first described in 1962. It is an autosomalrecessive disease with generalized myotonic myopathy and skeletal dysplasia.A mutation in the HSPG2 gene occurs. Approximately 150 cases have beenreported in literature. A 4-year-old girl presented to the pediatric neurologyclinic due to difficulty in walking. The patient had difficulty opening hermouth and swallowing. She was unable to eat solid foods and was bottlefed. She was able to stand leaning forward, with her legs open and with onehand supported. Bilateral blepharospasm, posterior cleft palate, microstomia,pursed lips, kyphoscoliosis, contracture in the elbows, long thin fingers andcampodactyly in the bilateral 5th fingers were present. Myotonic contractionwith thenar percussion was observed. Previously undescribed mutation wasdetermined in HSPG2 gene in the genetic study. Oral carbamazepine therapywas initiated and 1.5 months later the patient’s muscle rigidity had decreasedand her motor skills had improved. This report contributes to the literature bydefining a new mutation in HSPG2 gene and showing the importance of earlydiagnosis of the disease.