جستجوی مقالات مرتبط با کلیدواژه « Schwartz Jampel Syndrome » در نشریات گروه « پزشکی »

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disease characterized by muscle weakness and stiffness, abnormal bone development, short stature, joint contractures, and facial dysmorphisms. Myopathy, anatomical deformities, and malignant hyperthermia are challenging for anesthesiologists.

This case report describes one case of SJS. The female patient was scheduled for Blepharoplasty in Rasuol Akram General Hospital.

These patients may have difficult intubation and be prone to malignant hyperthermia. We managed this patient by applying Rocuronium, propofol, and C-MAC video laryngoscopy.

To describe a patient with Schwartz Jampel vel Aberfeld syndrome (SJS) who underwent orbicularis oculi myectomy as a treatment for blepharospasm.
Case Report: A 4‑year‑old child with SJS did not respond to an injection of a single dose of botulinumtoxin after one month, so orbicularis myectomy was then performed under general anesthesia. During the procedure, orbicularis vermiform movements were a useful guide for the extent of myectomy that the patient needed. He responded very well to this procedure and experienced significant relief of blepharospasm documented in follow‑up visits for up to 6 months.
Blepharospasm in patients with SJS can be treated with orbicularis oculi myectomy as a good functional method with faster and durable response in comparison to botulinum toxin injection.

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.