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.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 37 - 40 (4page)
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초록· 키워드
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Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy showing repeated demyelinating and remyelinating changes. We describe the first case of CMT disease showing diffuse plexiform neurofibroma on the cervical MRI in Korea. On physical examination, weakness and atrophy of intrinsic muscles on both hands and pes cavus deformity were noticed. Hypoesthesia on the distal limbsand hypoactive joint jerk were found. Nerve conduction study presented decreased nerve conduction velocity (median motor nerve; 17.2m/s, ulnar motor nerve; 20.5m/s) and delayed latency without conduction block. Electromyography showed a few fibrillation, positive sharp wave and polyphasic motor unit action potential on the left limbs muscle. Bilateral symmetrical plexiform neurofibromas from cervical 3rd to 7th nerve rootswere observed diffusely and considered as the results of repetitive demyelinating and remyelinating changes. Genetic studies showed peripheral myelin protein (PMP) 22 gene duplication in chromosome 17p 11.2. He was diagnosed finally as CMT1A..
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참고문헌 (9)
참고문헌 신청
Badano JL / 2011 / New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis / Clin Chem 47 : 838 ~ 843
Benchikhi H / 1995 / Exclusive nodular plexiform neurofibroma. An unusual case of neurofibromatosis type 1 / Ann Dermatol Venereol 122 (9) : 601 ~ 603
Bhargava R / 1997 / MR imaging differentiation of benign and malignant peripheral nerve sheath tumors: use of target sign / Pediatr Radiol 27 : 124 ~ 129
Cellerini M / 2000 / MR imaging of the cauda equine in hereditary motor sensory neuropathies:correlations with sural nerve biopsy / Am J Neuroradiol 21 (10) : 1793 ~ 1798
Duggins AJ / 1998 / Spinal root and plexus hypertrophy in chronic inflammatory demyelinating polyneuropathy / Brain 122 (7) : 1383 ~ 1390
Benchikhi H / 1995 / Exclusive nodular plexiform neurofibroma. An unusual case of neurofibromatosis type 1 / Ann Dermatol Venereol 122 (9) : 601 ~ 603
Bhargava R / 1997 / MR imaging differentiation of benign and malignant peripheral nerve sheath tumors: use of target sign / Pediatr Radiol 27 : 124 ~ 129
Cellerini M / 2000 / MR imaging of the cauda equine in hereditary motor sensory neuropathies:correlations with sural nerve biopsy / Am J Neuroradiol 21 (10) : 1793 ~ 1798
Duggins AJ / 1998 / Spinal root and plexus hypertrophy in chronic inflammatory demyelinating polyneuropathy / Brain 122 (7) : 1383 ~ 1390
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