A CASE OF CONGENITAL INSENSITIVITY TO PAIN ACCOMPANIED WITH OCULOCUTANEOUS ALBINISM

Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient

Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...

congenital insensitivity to pain with anhidrosis (cipa): a case report

A case of congenital insensitivity to pain with anhidrosis.

Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive disease which is also known as hereditary sensory and autonomic neuropathy type 4 (1). The prominent characteristics of the disease include fever due to anhidrosis, absence of sense of pain, painless ulcers in the structures inside the mouth and extremities, self-harm behavior, mild to severe mental r...

Congenital insensitivity to pain with anhidrosis: a case report.

We present a five-year-old girl with congenital insensitivity to pain with anhidrosis. A skeletal radiographic survey revealed several old fractures. Application of pilocarpine showed anhidrosis and nerve biopsy revealed a significant decrease in the number of myelinated and unmyelinated nerve fibres.

Case Report: Congenital Insensitivity to Pain

Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN). It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.