title: Congenital sensory neuropathy as a differential diagnosis for phagocytic immunodeficiency.
abstract: There are few reports about congenital indifference to pain or Hereditary and Sensory Autonomic Neuropathy (HSAN). Several investigations for pathophysiology of this syndrome have been performed and different classifications about it. In this report we present a case of HSAN type II with general absence of pain and self amputations and leprosy-like damage of extremities which was suspected to be phagocytic immunodeficiency due to past history of repeated ulcer and abscess formation.
authors.affiliation: Department of Immunology and Allergy, Children Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran. gharagoz@tums.ac.ir
authors.forename: Mohammad
authors.initials: M
authors.lastname: Gharagozlou
authors.forename: Fariborz
authors.initials: F
authors.lastname: Zandieh
authors.forename: Parviz
authors.initials: P
authors.lastname: Tabatabaei
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Zamani
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D010585:Phagocyte Bactericidal Dysfunction / Q000175:diagnosis* / Q000473:pathology