Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery

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Abstract

Schwartz-Jampel syndrome is an autosomal recessive disease that comprises facial and musculoskeletal deformity. Hereby, the authors report 2 cases of Schwartz-Jampel syndrome and surgical method of their management. The first case was a boy who was result of twin delivery whose sibling was completely normal. The second case was a girl who was the first child of her family. Both were born to a consanguineous marriage. Both had developed characteristic facial expressions of Schwartz-Jampel syndrome between 18 and 24 months of age. They had Botulinum toxin A injection (twice in the first and ones in the second case) with no improvement. Both were referred because of being functionally blind due to inability to open the eyelids around age 3.5 years. Orbicularis oculi myectomy, partial corrugator muscle excision, levator tucking, and lateral tarsal strip procedure was performed on both cases. No complication and no recurrence of eyelid contraction were observed after 4 years and 6 months follow up in the first and second case, respectively.

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