Advanced Biomedical Research

: 2015  |  Volume : 4  |  Issue : 1  |  Page : 163-

The Schwartz-Jampel syndrome: Case report and review of literature

Keivan Basiri1, Farzad Fatehi2, Bashar Katirji3 
1 Isfahan Neurosciences Research Center, Alzahra Hospital, Department of Neurology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran
2 Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
3 Department of Neurology, Neuromuscular Center and EMG Laboratory, University Hospitals Case Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA

Correspondence Address:
Dr. Keivan Basiri
Department of Neurology, Alzahra University Hospital, Sofeh Street, Isfahan

Schwartz-Jampel syndrome (SJS), first described in the United States in 1962, is a hereditary disorder characterized by facial dysmorphism and muscle stiffness. We describe the first case of a Persian 9-year-old boy with SJS and review the literature. The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature, and skeletal deformities. He had proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. Bone X-ray revealed pseudofracture of humerus. Needle electromyography revealed continuous myotonic discharges at rest with no waxing and waning in all tested muscles. Based on clinical and electrodiagnostic findings, the diagnosis of SJS type 1B was made and procainamide was started which resulted in clinical improvement. The diagnosis of SJS should be suspected when a child presents with the triad of myotonia, facial dysmorphism and skeletal deformities.

How to cite this article:
Basiri K, Fatehi F, Katirji B. The Schwartz-Jampel syndrome: Case report and review of literature.Adv Biomed Res 2015;4:163-163

How to cite this URL:
Basiri K, Fatehi F, Katirji B. The Schwartz-Jampel syndrome: Case report and review of literature. Adv Biomed Res [serial online] 2015 [cited 2023 May 31 ];4:163-163
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