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J Korean Neurol Assoc. 1997;15(1):211-215.
- Congenital insensitivity to pain and anhidrosis with selective loss of unmyelinated fiber (Hereditory sensory autonomic neuropathy IV)
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Il Hong Son, M.D., Sung Jin Cho, M.D., Joon Shik Moon, M.D., Young Kwan Park, M.D., Sung Soo Lee, M.D., Seung Min Kim, M.D., Il Nam Sunwoo, M.D.
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Department of Neurology, Wonju College of Medicine, Yonsei University. Department of Neurology, College of Medicine, Yonsei University
- 유전성 감각 및 자율신경병 제 4형 1예
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손일홍, 조성진, 문준식, 박영관, 이성수, 김승민, 선우일남
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연세대학교 원주의대 신경과, 연세대학교 의대 신경과
- Abstract
- Hereditory Sensory Autonomic Neuropathy(HSAN) is variable rare disorder. So the classification of HSAN could be somewhat unsettled. There are intermingled overlap variants of HSAN in view of clinical manifestations and pathologic findings.
Five types of HSAN have been described by Dyck(1993). Type I is dominantly inherited
and affects both myelinated(MFs) and unmyetinated fibers(Ufs). Type II is recessively
inherited and nerve biopsies show total absence of MFs but presence of Ufs. Type III
is a recessive inherited dysautonomia. Type IV is characterized by insensitive to pain
anhidrosis, and mild mental retardation with virtually absence of Ufs. Type V affects
small MFs. We report a 5 year-old girl who presented with congenital insensitivity to
pain, anhidrosis with mild mental retardation. In sural nerve biopsy, Ufs were virtually
absent by electron microscopy. We reconfirmed previous pathologic findings in sural
nerve of HSAN IV.
Keywords :
- 초록
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