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Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report

A 19-month-old girl with Cornelia de Lange-like dysmorphic features presented with left eye leukocoria. She was diagnosed with 13q deletion retinoblastoma grade 4 with high-risk features and bone marrow involvement. She underwent enucleation, and the first course of intravenous chemotherapy was init...

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Autores principales: Wangtiraumnuay, Nutsuchar, Surakrattanaskul, Supawan, Wangkittikul, Chonthida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10134053/
https://www.ncbi.nlm.nih.gov/pubmed/37123606
http://dx.doi.org/10.1159/000530182
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author Wangtiraumnuay, Nutsuchar
Surakrattanaskul, Supawan
Wangkittikul, Chonthida
author_facet Wangtiraumnuay, Nutsuchar
Surakrattanaskul, Supawan
Wangkittikul, Chonthida
author_sort Wangtiraumnuay, Nutsuchar
collection PubMed
description A 19-month-old girl with Cornelia de Lange-like dysmorphic features presented with left eye leukocoria. She was diagnosed with 13q deletion retinoblastoma grade 4 with high-risk features and bone marrow involvement. She underwent enucleation, and the first course of intravenous chemotherapy was initiated. On day 10 after the first chemotherapy dose, she developed digital gangrene of her left hand. She was diagnosed with acute artery occlusion and limb ischemia. Thrombophilia work-up revealed antiphospholipid antibodies, and paraneoplastic syndrome is another possible cause of digital gangrene. The patient’s left thumb and index finger were amputated. After 1 month of hospitalization, she was discharged. Before the second course of chemotherapy, the patient died of systemic metastatic retinoblastoma with respiratory failure due to pneumonia. Our postulation of the mechanism for digital gangrene was the combination of chemotherapy, paraneoplastic syndrome, and antiphospholipid syndrome. Digital gangrene could be a poor prognostic indicator in patients with retinoblastoma.
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spelling pubmed-101340532023-04-28 Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report Wangtiraumnuay, Nutsuchar Surakrattanaskul, Supawan Wangkittikul, Chonthida Case Rep Oncol Case Report A 19-month-old girl with Cornelia de Lange-like dysmorphic features presented with left eye leukocoria. She was diagnosed with 13q deletion retinoblastoma grade 4 with high-risk features and bone marrow involvement. She underwent enucleation, and the first course of intravenous chemotherapy was initiated. On day 10 after the first chemotherapy dose, she developed digital gangrene of her left hand. She was diagnosed with acute artery occlusion and limb ischemia. Thrombophilia work-up revealed antiphospholipid antibodies, and paraneoplastic syndrome is another possible cause of digital gangrene. The patient’s left thumb and index finger were amputated. After 1 month of hospitalization, she was discharged. Before the second course of chemotherapy, the patient died of systemic metastatic retinoblastoma with respiratory failure due to pneumonia. Our postulation of the mechanism for digital gangrene was the combination of chemotherapy, paraneoplastic syndrome, and antiphospholipid syndrome. Digital gangrene could be a poor prognostic indicator in patients with retinoblastoma. S. Karger AG 2023-04-27 /pmc/articles/PMC10134053/ /pubmed/37123606 http://dx.doi.org/10.1159/000530182 Text en © 2023 The Author(s). Published by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Wangtiraumnuay, Nutsuchar
Surakrattanaskul, Supawan
Wangkittikul, Chonthida
Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report
title Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report
title_full Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report
title_fullStr Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report
title_full_unstemmed Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report
title_short Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report
title_sort digital gangrene and antiphospholipid syndrome in a retinoblastoma patient with chromosome 13q deletion: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10134053/
https://www.ncbi.nlm.nih.gov/pubmed/37123606
http://dx.doi.org/10.1159/000530182
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