All issues > Volume 40(11); 1997

Case Report

J Korean Pediatr Soc. 1997;40(11):1621-1626. Published online November 15, 1997.

A Case of Congenital Insensitivity to Pain with Anhidrosis

Munhyang Mh Lee¹, Nam Seon NS Beck¹, Dongkyu Dk Jin¹, Yeon-Lim YL 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

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.

Keywords :Congenital insensitivity to pain with Anhidrosis(CIPA)