title: Congenital insensitivity of pain with anhidrosis.
abstract: Congenital insensitivity to pain with anhidrosis is an autosomal recessive disorder included in a group of rare diseases termed as hereditary sensory-motor neuropathies. The diagnosis is made usually in early childhood period as most of the children present with recurrent unexplained hyperpyrexia. This case report is of a neonate who presented with tachypnea and fever on second day of life being treated for clinical sepsis and had no response to antibiotics. On pricking for i.v. canulation there was no cry, and temperature of the baby returned to normal on removing the covering blankets. Diagnosis was established by family history, skin and sural nerve biopsy. Early diagnosis is important for prevention of injury, self mutilation and growth retardation. This case report points to the question that should assessment of pain sensation be a part of routine examination of newborn.
authors.affiliation: Neonatal Intensive Care Unit, Khoula Hospital, Muscat, Sultanate of Oman. brg30363@omantel.net.om
authors.forename: Bhaskar
authors.initials: B
authors.lastname: Gupta
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D003241:Consanguinity; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010147:Pain Measurement; D013497:Sural Nerve / Q000473:pathology