title: Hereditary Sensory Autonomic Neuropathy II, a rare disease in a large Pakistani family.
abstract: Hereditary Sensory Autonomic Neuropathy II (HSAN II) is a rare genetic disorder, characterized by severe loss of pain, temperature and touch sensation. Injuries in these patients can progress to necrosis and shedding of digits and limbs. Here we report two cases of HSAN II belonging to a Pakistani family. Individual 1, a forty five year old man, had complete loss of pain sensation since birth. Self-mutilation and complication of injuries resulted in the shedding of all the digits and right foot and surgical amputation of left leg. Individual 2, a five year old girl,had delay in healing of wounds and self-mutilation. Examination showed a complete lack of pain sensation throughout her body and hyporeflexia. As the genetic cause of HSAN II is unknown, identification of more patients will allow further research on this disease and possibly develop a cure.
authors.affiliation: Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi.
authors.forename: Fazal Manzoor
authors.initials: FM
authors.lastname: Arain
authors.affiliation: Department of Pediatric Neurology, The Aga Khan University, Karachi.
authors.forename: Prem
authors.initials: P
authors.lastname: Chand
mesh_terms: D002675:Child, Preschool; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010154:Pakistan; D010375:Pedigree; D035583:Rare Diseases / Q000235:genetics* / Q000473:pathology* / Q000523:psychology; D012652:Self Mutilation / Q000209:etiology / Q000473:pathology*
keywords: Genetic, Neuropathy, Pain, Self-mutilation