A Case of Congenital Insensitivity to Pain with Anhidrosis

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.