Journal of the Korean Pediatric Society 1997;40(11):1621-1626.
Published online November 15, 1997.
A Case of Congenital Insensitivity to Pain with Anhidrosis
Munhyang Lee1, Nam Seon Beck1, Dongkyu Jin1, Yeon-Lim Suh2
1Departments of Pediatrics, Sung Kyun Kwan University, College of Medicine, Samsung Medical Center, Seoul, Korea
2Departments of Diagnostic Pathology, Sung Kyun Kwan University, College of Medicine, Samsung Medical Center, Seoul, Korea
Congenital Insensitivity to Pain with Anhidrosis 1례
이문향1, 백남선1, 진동규1, 서연림2
1성균관대학교 의과대학 삼성서울병원 소아과학교실
2성균관대학교 의과대학 삼성서울병원 진단병리과학교실
Abstract
Congenital insensitivity to pain with anhidrosies (CIPA) is one of the exceedingly rare hereditary sensory autonomic neuropathies (HSAN). There are five types of HSAN according to hereditary transmission, natural history, clinical manifestations, and pathologic findings. The CIPA corresponds to type IV and is characterized by episodes of recurrent fever with generalized anhidrosis, insensitivity to pain and temperature with self-multilation, and mental retardation. We report a 14 month old girl with the clinical symptoms and neuropathological findings of CIPA without family history. She presented with episodes of recurrent fever and self-mutilation of her tongue. Clinical, laboratory and pathologic aspects of this patient are discussed along with review of the literature.
Key Words: Congenital insensitivity to pain with Anhidrosis(CIPA)


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