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A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient
RATIONALE: Both Wilson disease (WD) and Oculocutaneous Albinism (OCA) are rare autosomal recessive disorders that are caused by mutations on chromosome 13 and chromosome 11, respectively. Here, we report on a patient with coexisting WD and OCA, initially presenting episodes of tremors. PATIENT CONCE...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320091/ https://www.ncbi.nlm.nih.gov/pubmed/30558096 http://dx.doi.org/10.1097/MD.0000000000013744 |
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author | Rao, Rao Shu, Shan Han, Yong Zhu Chiu, Yu-Jen Han, Yong Sheng |
author_facet | Rao, Rao Shu, Shan Han, Yong Zhu Chiu, Yu-Jen Han, Yong Sheng |
author_sort | Rao, Rao |
collection | PubMed |
description | RATIONALE: Both Wilson disease (WD) and Oculocutaneous Albinism (OCA) are rare autosomal recessive disorders that are caused by mutations on chromosome 13 and chromosome 11, respectively. Here, we report on a patient with coexisting WD and OCA, initially presenting episodes of tremors. PATIENT CONCERNS: WD is a disorder of copper metabolism. The main sites of copper accumulation are the liver and the brain, resulting in hepatic symptoms. OCA is a disorder of melanin biosynthesis, characterized by a generalized reduction in pigmentation of the eyes (oculo-), skin (-cutaneous), and hair. Diagnosis: The diagnosis of WD was confirmed by neurological symptoms, metabolism tests, and MRI scans. Interestingly, the patient also had very light skin color, blond hair and eyebrows, and dark brown eyelashes and irises. Because the association of dermatologic signs in WD has rarely been reported, OCA was highly suspected based on these clinical findings. Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA. The family history was positive for WD with a 14-year-old younger brother also being diagnosed with it. Her parents are negative for OCA and WD. INTERVENTIONS: Sodium dimercaptopropanesulfonate (DMPS) was given during hospitalization. D-penicillamine and zinc sulfate treatment was initiated after discharge for long-term control. OUTCOMES: Postural and intention tremor disappeared, and other symptoms and signs markedly improved after treatment. LESSONS: In this study, we reported on the first case of a child who simultaneously presented WD and OCA, bringing up the possibility of a presumable link between these 2 rare diseases. |
format | Online Article Text |
id | pubmed-6320091 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-63200912019-01-14 A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient Rao, Rao Shu, Shan Han, Yong Zhu Chiu, Yu-Jen Han, Yong Sheng Medicine (Baltimore) Research Article RATIONALE: Both Wilson disease (WD) and Oculocutaneous Albinism (OCA) are rare autosomal recessive disorders that are caused by mutations on chromosome 13 and chromosome 11, respectively. Here, we report on a patient with coexisting WD and OCA, initially presenting episodes of tremors. PATIENT CONCERNS: WD is a disorder of copper metabolism. The main sites of copper accumulation are the liver and the brain, resulting in hepatic symptoms. OCA is a disorder of melanin biosynthesis, characterized by a generalized reduction in pigmentation of the eyes (oculo-), skin (-cutaneous), and hair. Diagnosis: The diagnosis of WD was confirmed by neurological symptoms, metabolism tests, and MRI scans. Interestingly, the patient also had very light skin color, blond hair and eyebrows, and dark brown eyelashes and irises. Because the association of dermatologic signs in WD has rarely been reported, OCA was highly suspected based on these clinical findings. Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA. The family history was positive for WD with a 14-year-old younger brother also being diagnosed with it. Her parents are negative for OCA and WD. INTERVENTIONS: Sodium dimercaptopropanesulfonate (DMPS) was given during hospitalization. D-penicillamine and zinc sulfate treatment was initiated after discharge for long-term control. OUTCOMES: Postural and intention tremor disappeared, and other symptoms and signs markedly improved after treatment. LESSONS: In this study, we reported on the first case of a child who simultaneously presented WD and OCA, bringing up the possibility of a presumable link between these 2 rare diseases. Wolters Kluwer Health 2018-12-14 /pmc/articles/PMC6320091/ /pubmed/30558096 http://dx.doi.org/10.1097/MD.0000000000013744 Text en Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial License 4.0 (CCBY-NC), where it is permissible to download, share, remix, transform, and buildup the work provided it is properly cited. The work cannot be used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc/4.0 |
spellingShingle | Research Article Rao, Rao Shu, Shan Han, Yong Zhu Chiu, Yu-Jen Han, Yong Sheng A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient |
title | A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient |
title_full | A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient |
title_fullStr | A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient |
title_full_unstemmed | A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient |
title_short | A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient |
title_sort | case report: co-occurrence of wilson disease and oculocutaneous albinism in a chinese patient |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320091/ https://www.ncbi.nlm.nih.gov/pubmed/30558096 http://dx.doi.org/10.1097/MD.0000000000013744 |
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