A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV). (3rd September 2019)

• Record Type: Journal Article
• Authors: Suresh, Beena; Reddy, Vaishnavi; Kurth, Ingo; Jagadeesh, Sujatha
• Is Part Of: Neuro-ophthalmology. Volume 43:Number 5(2019)
• Page Start: 310
• Page End: 312
• Publication Date: 2019-09-03
• Subjects: HSAN -- corneal ulcers -- anhidrosis -- NTRK1; Neuroophthalmology -- Periodicals; 617.7
• DOI: 10.1080/01658107.2018.1506937
• Languages: English
• ISSNs: 0165-8107

Abstract

ABSTRACT: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) or Congenital Insensitivity to pain and Anhidrosis is an autosomal recessive condition. It is characterized by absence of reaction to painful stimuli, anhidrosis, self-mutilating behaviour and episodic fever. We report a child with HSAN IV who presented primarily with recurrent corneal ulcers and the classical history helped us clinch the diagnosis. Molecular testing revealed a homozygous pathogenic frameshift mutation in NTRK1 c.717delG, p.(Met239fs). Molecular testing is confirmatory and this will help the family in future prenatal diagnosis.