지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
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초록· 키워드
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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.
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등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Al-Hassnan ZN / 2008 / Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation:Clinical, biochemical and molecular analysis / J Neurol Sci 264(1-2):187~194
Camacho J / 1993 / Hyperornithinemiahyperammonemia-homocitrullinuria syndrome / University of Washington
Comella CL / 2004 / Botulinum toxins in neurological disease / Muscle Nerve 29(5):628~644
Debray FG / 2008 / Phenotypic variability among patients with hyperornithinaemiaperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15 / J Med Genet 45(11):759~764
Kim SZ / 2012 / Long-term follow-up of four patients affected by HHH syndrome / Clin Chim Acta 413(13-14):1151~1155
Camacho J / 1993 / Hyperornithinemiahyperammonemia-homocitrullinuria syndrome / University of Washington
Comella CL / 2004 / Botulinum toxins in neurological disease / Muscle Nerve 29(5):628~644
Debray FG / 2008 / Phenotypic variability among patients with hyperornithinaemiaperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15 / J Med Genet 45(11):759~764
Kim SZ / 2012 / Long-term follow-up of four patients affected by HHH syndrome / Clin Chim Acta 413(13-14):1151~1155
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