Two Case Reports of Hereditary Sensory Autonomic Neuropathy Type IV

  • Khairunnisa Mukhtiar Department of Pediatrics and Child Health, Aga Khan University Hospital Karachi, Pakistan
  • Qurat-ul-Ain Khalid Department of Pediatrics and Child Health, Aga Khan University Hospital Karachi, Pakistan
  • Sanam Bano Rajper Department of Pediatrics and Child Health, Aga Khan University Hospital Karachi, Pakistan
Keywords: Hereditary Sensory Autonomic Neuropathy, Insensitivity to pain, Self-mutilation

Abstract

Hereditary Sensory Autonomic Neuropathy type IV (HSAN-IV), previously known as congenital insensitivity to pain and anhidrosis (CIPA), is an uncommon condition that presents in infancy with repeated episodes of fever, loss of pain sensations and self-mutilation. We are reporting two patients from two different families. Both patients had history of recurrent fever, anhidrosis, and pain insensitivity and self-mutilation behavior. Both had delayed motor developmental milestones with cognitive impairment. Clinical diagnosis of HSAN type IV was made on the basis of history, clinical examination and excluding other possible causes. Diagnosis of this rare disease is commonly delayed and patients ultimately develop complications. As there is no definitive treatment, these patients and their families should receive proper education and counselling for rehabilitation

Published
2020-12-31
Section
Case Reports