A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) |
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Authors: | Beena Suresh Vaishnavi Reddy Ingo Kurth Sujatha Jagadeesh |
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Affiliation: | 1. Department of Clinical Genetics, Mediscan Systems, Chennai, Indiabeenammc@gmail.com;3. Department of Clinical Genetics, Mediscan Systems, Chennai, India;4. Institut für Humangenetik, der RWTH Aachen, Germany |
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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. |
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Keywords: | HSAN corneal ulcers anhidrosis NTRK1 |
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