A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)

Beena Suresh; Vaishnavi Reddy; Ingo Kurth; Sujatha Jagadeesh

doi:10.1080/01658107.2018.1506937

A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)

Neuroophthalmology. 2018 Aug 22;43(5):310-312. doi: 10.1080/01658107.2018.1506937. eCollection 2019 Nov.

Authors

Beena Suresh¹, Vaishnavi Reddy¹, Ingo Kurth², Sujatha Jagadeesh¹

Affiliations

¹ Department of Clinical Genetics, Mediscan Systems, Chennai, India.
² Institut für Humangenetik, der RWTH Aachen, Germany.

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.

Keywords: HSAN; NTRK1; anhidrosis; corneal ulcers.

Publication types

Case Reports