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Adult Refsum Disease in Puerto Rico: A Case Report
Patients with adult Refsum Disease (ARD) have retinitis pigmentosa and thus nyctalopia, anosmia, sensorineural deafness, polyneuropathy, and ataxia. Upon physical examination, patients with ARD have congenital short metacarpals, metatarsals, and cardiac arrhythmias. Manifestations due to the lack of...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10581862/ https://www.ncbi.nlm.nih.gov/pubmed/37859930 http://dx.doi.org/10.7759/cureus.45426 |
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author | Ramos-Sánchez, Raúl Y López-Fontanet, José J Izquierdo, Natalio |
author_facet | Ramos-Sánchez, Raúl Y López-Fontanet, José J Izquierdo, Natalio |
author_sort | Ramos-Sánchez, Raúl Y |
collection | PubMed |
description | Patients with adult Refsum Disease (ARD) have retinitis pigmentosa and thus nyctalopia, anosmia, sensorineural deafness, polyneuropathy, and ataxia. Upon physical examination, patients with ARD have congenital short metacarpals, metatarsals, and cardiac arrhythmias. Manifestations due to the lack of phytanoyl-CoA hydroxylase in peroxisomes needed for alpha-oxidation of phytanic acid lead patients to accumulate phytanic acid in their body tissues. To our knowledge, no consensus for clinical diagnostic criteria for patients with ARD has been published. Our patient had nyctalopia, retinal findings, and visual field results compatible with retinitis pigmentosa. Additionally, the patient had decreased macular thickness and volume in both eyes, the findings being worse in the left eye. The patient had undergone hand surgery due to chronic pain in both hands, as well as his fourth and fifth metatarsal bones were shortened. Interestingly, audiology evaluation showed mild hearing loss in the right ear and mild to moderate hearing loss in the left ear. Inheritance patterns in patients with ARD have been described. Physical examination, phytanic acid evaluation, and genetic studies may all help reach an ARD diagnosis. This is the first report of adult Refsum disease in Puerto Rico. |
format | Online Article Text |
id | pubmed-10581862 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-105818622023-10-19 Adult Refsum Disease in Puerto Rico: A Case Report Ramos-Sánchez, Raúl Y López-Fontanet, José J Izquierdo, Natalio Cureus Genetics Patients with adult Refsum Disease (ARD) have retinitis pigmentosa and thus nyctalopia, anosmia, sensorineural deafness, polyneuropathy, and ataxia. Upon physical examination, patients with ARD have congenital short metacarpals, metatarsals, and cardiac arrhythmias. Manifestations due to the lack of phytanoyl-CoA hydroxylase in peroxisomes needed for alpha-oxidation of phytanic acid lead patients to accumulate phytanic acid in their body tissues. To our knowledge, no consensus for clinical diagnostic criteria for patients with ARD has been published. Our patient had nyctalopia, retinal findings, and visual field results compatible with retinitis pigmentosa. Additionally, the patient had decreased macular thickness and volume in both eyes, the findings being worse in the left eye. The patient had undergone hand surgery due to chronic pain in both hands, as well as his fourth and fifth metatarsal bones were shortened. Interestingly, audiology evaluation showed mild hearing loss in the right ear and mild to moderate hearing loss in the left ear. Inheritance patterns in patients with ARD have been described. Physical examination, phytanic acid evaluation, and genetic studies may all help reach an ARD diagnosis. This is the first report of adult Refsum disease in Puerto Rico. Cureus 2023-09-17 /pmc/articles/PMC10581862/ /pubmed/37859930 http://dx.doi.org/10.7759/cureus.45426 Text en Copyright © 2023, Ramos-Sánchez et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Ramos-Sánchez, Raúl Y López-Fontanet, José J Izquierdo, Natalio Adult Refsum Disease in Puerto Rico: A Case Report |
title | Adult Refsum Disease in Puerto Rico: A Case Report |
title_full | Adult Refsum Disease in Puerto Rico: A Case Report |
title_fullStr | Adult Refsum Disease in Puerto Rico: A Case Report |
title_full_unstemmed | Adult Refsum Disease in Puerto Rico: A Case Report |
title_short | Adult Refsum Disease in Puerto Rico: A Case Report |
title_sort | adult refsum disease in puerto rico: a case report |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10581862/ https://www.ncbi.nlm.nih.gov/pubmed/37859930 http://dx.doi.org/10.7759/cureus.45426 |
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