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DOI: 10.3233/JPN-2011-0470
A rare case of congenital insensitivity to pain and anhidrosis with seizure disorder
Subject Editor:
Publication History
27 January 2010
19 March 2010
Publication Date:
30 July 2015 (online)
Abstract
Congenital pain insensitivity and anhidrosis is an extremely rare disorder characterized by lack of pain sensation, painless injuries of the arms, legs and oral structures, hyperthermia during hot weather because of inability to sweat, mental retardation, infection and scarring of the tongue, lips and gums, chronic infections of bones and joints, bone fractures, multiple scars, osteomyelitis and joint deformities. We report this rare case in a 2-year-old girl who presented with recurrent episodes of high-grade fever with anhidrosis, dry fissured skin, self-mutilation, tooth loss. She also had three episodes of generalized tonic-clonic seizure during afebrile period. This case report highlights the rare association of congenital insensitivity to pain and anhidrosis with seizure disorder.