| A Case of Congenital Insensitivity to Pain with Anhidrosis |
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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 |
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이문향1, 백남선1, 진동규1, 서연림2 |
1성균관대학교 의과대학 삼성서울병원 소아과학교실
2성균관대학교 의과대학 삼성서울병원 진단병리과학교실 |
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| Abstract |
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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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