title: The Schwartz-Jampel syndrome: Case report and review of literature.
abstract: 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.
authors.affiliation: Isfahan Neurosciences Research Center, Alzahra Hospital, Department of Neurology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Keivan
authors.initials: K
authors.lastname: Basiri
authors.affiliation: Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Fatehi
authors.affiliation: Department of Neurology, Neuromuscular Center and EMG Laboratory, University Hospitals Case Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
authors.forename: Bashar
authors.initials: B
authors.lastname: Katirji
keywords: Carbamazepine; Schwartz-Jampel syndrome; dysmorphism; myotonia; osteochondrodysplasia