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The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV

Hereditary sensory autonomic neuropathy (HSAN) is a group of inherited disorders (total 5 types) that are associated with sensory dysfunction and varying degrees of autonomic dysfunction. HSAN type IV (HSAN-IV) or congenital insensitivity to pain and anhidrosis (CIPA) is a rare genetic disorder inhe...

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Autores principales: Sethi, Aditya, Ramasubramanian, Srikanth, Swaminathan, Meenakshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728043/
https://www.ncbi.nlm.nih.gov/pubmed/32971688
http://dx.doi.org/10.4103/ijo.IJO_2101_19
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author Sethi, Aditya
Ramasubramanian, Srikanth
Swaminathan, Meenakshi
author_facet Sethi, Aditya
Ramasubramanian, Srikanth
Swaminathan, Meenakshi
author_sort Sethi, Aditya
collection PubMed
description Hereditary sensory autonomic neuropathy (HSAN) is a group of inherited disorders (total 5 types) that are associated with sensory dysfunction and varying degrees of autonomic dysfunction. HSAN type IV (HSAN-IV) or congenital insensitivity to pain and anhidrosis (CIPA) is a rare genetic disorder inherited in an autosomal recessive manner. We report a case of this very rare genetic disease in a 3-year-old girl child, born to a family in north India with ocular features of neurotrophic keratitis. The diagnosis was made clinically based on the hallmark features of insensitivity to pain and temperature, anhidrosis, self-mutilating behavior with multiple recurrent oral ulcers, nasal bleeds, multiple trophic ulcers over joints, and decreased intellect.
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spelling pubmed-77280432020-12-11 The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV Sethi, Aditya Ramasubramanian, Srikanth Swaminathan, Meenakshi Indian J Ophthalmol Case Reports Hereditary sensory autonomic neuropathy (HSAN) is a group of inherited disorders (total 5 types) that are associated with sensory dysfunction and varying degrees of autonomic dysfunction. HSAN type IV (HSAN-IV) or congenital insensitivity to pain and anhidrosis (CIPA) is a rare genetic disorder inherited in an autosomal recessive manner. We report a case of this very rare genetic disease in a 3-year-old girl child, born to a family in north India with ocular features of neurotrophic keratitis. The diagnosis was made clinically based on the hallmark features of insensitivity to pain and temperature, anhidrosis, self-mutilating behavior with multiple recurrent oral ulcers, nasal bleeds, multiple trophic ulcers over joints, and decreased intellect. Wolters Kluwer - Medknow 2020-10 2020-09-23 /pmc/articles/PMC7728043/ /pubmed/32971688 http://dx.doi.org/10.4103/ijo.IJO_2101_19 Text en Copyright: © 2020 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Sethi, Aditya
Ramasubramanian, Srikanth
Swaminathan, Meenakshi
The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV
title The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV
title_full The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV
title_fullStr The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV
title_full_unstemmed The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV
title_short The painless eye: Neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type IV
title_sort painless eye: neurotrophic keratitis in a child suffering from hereditary sensory autonomic neuropathy type iv
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728043/
https://www.ncbi.nlm.nih.gov/pubmed/32971688
http://dx.doi.org/10.4103/ijo.IJO_2101_19
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