Congenital Insensitivity to Pain with Multiple Fractures: A Case Report and Literature Review

Congenital insensitivity to pain with anhidrosis: a case report from Pakistan and literature review

Congenital insensitivity to pain with anhidrosis is a rare disease with an autosomal recessive inheritance. The patients present in early childhood with frequent episodes of fever and absence of sweating. Painless fractures, bruises and cuts are quite common. Defective lacrimation and mental retardation are strongly diagnostic. Repeated injuries often lead to a reduced life expectancy. The diag...

Congenital Insensitivity to Pain with Anhidrosis: A Review of Literature and Case Report

Congenital insensitivity to pain with anhidrosis is a rare genetic disorder of peripheral nervous system characterised by recurrent episode of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature and self mutilating behavior. We are presenting a eight year old female with CIPA who have pus discharge and pathological fracture of anterior mandible .Sural nerve biopsy r...

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

Congenital Insensitivity to Pain: A Case Report and Review of the Literature

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal an...

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.