삼H증후군 환자의 보행 장애에서 보툴리눔 독소 주사치료: 증례보고

Abstract

ˇPurposeˇ:ˇHyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare, autosomal recessive metabolic disorder which is caused by genetic mutations that disrupt the urea cycle. It is characterized by variable clinical presentation and the age of onset. Patients may present with gait disturbance and progressive paraplegia and muscle tightness in the lower extremities. We describe a case of a 14-year-old-boy with HHH syndrome, who presented with a several - month history of gait disturbance and lower extremity weakness. ˇMethodsˇ:ˇBotulinum toxin type A were injected into muscles of adductor longus, adductor magnus, lateral and medial hamstring, and lateral and medial gastrocnemius muscle heads under needle electromyography guidance. Intensive physical therapy including gait training and stretching exercise of adductor and calf muscles were also provided. ˇResultsˇ:ˇAfter intensive physical therapy and botulinum toxin injection to reduce lower limb spasticity, he was able to ambulate for 20 meters independently without any walking aids. There were no adverse events after the injection. ˇConclusionˇ:ˇBotulinum toxin injection is a safe and effective therapy for patients with HHH syndrome who suffer from gait disturbance.