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◆ Journal of surgical case reports2026-08-01

Surgical correction of severe rigid equinovarus deformity in Cockayne syndrome: perioperative challenges and multidisciplinary management-a case report.

Shadi Abu Isneina, Bessan Hamed Dababseh, Ala'a S Ghnimat, Lubna W AbuHamdiya, Dina Wohoosh, Abdallah Dababsseh

原始摘要(英文原文)· Original abstract
Cockayne syndrome (CS) is a rare autosomal recessive transcription-coupled nucleotide excision repair disorder (ERCC6/ERCC8) causing progressive neuromuscular deterioration and limb contractures. We report a 10-year-old boy with CS type B (ERCC6) who presented with rigid bilateral equinovarus, rendering him non-ambulatory, and elevated transaminases (ALT 682 U/L, AST 183 U/L). Bilateral fractional elongation of the Achilles tendon was performed successfully; hepatotoxic agents were avoided, and opioid/sedative dosages were meticulously titrated. Recovery was uneventful; the patient regained supported standing and resumed active physiotherapy. Functional orthopedic surgery is achievable in CS via rigorous multidisciplinary coordination, providing a valuable template for perioperative risk management.
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Surgical correction of severe rigid equinovarus deformity in Cockayne syndrome: perioperative challenges and multidisciplinary management-a case report. — 科研速览 Science Skim