Hereditary Sensory Autonomic Neuropathy II, a rare disease in a large Pakistani family

Fazal Manzoor Arain; Prem Chand

Hereditary Sensory Autonomic Neuropathy II, a rare disease in a large Pakistani family

J Pak Med Assoc. 2015 Oct;65(10):1128-30.

Authors

Fazal Manzoor Arain¹, Prem Chand²

Affiliations

¹ Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi.
² Department of Pediatric Neurology, The Aga Khan University, Karachi.

PMID: 26440849

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.

Keywords: Genetic, Neuropathy, Pain, Self-mutilation.

Publication types

Case Reports

MeSH terms

Child, Preschool
Female
Hereditary Sensory and Autonomic Neuropathies / genetics*
Hereditary Sensory and Autonomic Neuropathies / pathology*
Hereditary Sensory and Autonomic Neuropathies / psychology
Humans
Male
Middle Aged
Pakistan
Pedigree
Rare Diseases / genetics*
Rare Diseases / pathology*
Rare Diseases / psychology
Self Mutilation / etiology
Self Mutilation / pathology*