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Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report
INTRODUCTION AND IMPORTANCE: Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by multiple neurofibromas, café-au-lait spots, and iris hamartomas. The variety of vasculopathies that can occur in NF1 make it difficult for clinicians to accurately follow-up patients. Most cases of vas...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Lippincott Williams & Wilkins
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617891/ https://www.ncbi.nlm.nih.gov/pubmed/37915684 http://dx.doi.org/10.1097/MS9.0000000000001329 |
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author | Jawad, Ali Hannouneh, Zein Alabdin Soqia, Jameel Al Nahhas, Zaher Ahmed, Adnan Nahas, Mohamad Ali |
author_facet | Jawad, Ali Hannouneh, Zein Alabdin Soqia, Jameel Al Nahhas, Zaher Ahmed, Adnan Nahas, Mohamad Ali |
author_sort | Jawad, Ali |
collection | PubMed |
description | INTRODUCTION AND IMPORTANCE: Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by multiple neurofibromas, café-au-lait spots, and iris hamartomas. The variety of vasculopathies that can occur in NF1 make it difficult for clinicians to accurately follow-up patients. Most cases of vasculopathies are stenotic, and, in few cases, aneurysms may form. CASE PRESENTATION: A 35-year-old male presented with extreme left flank pain for the past 2 days. His physical examination revealed whole-body several café-au-lait skin macules, a subcutaneous lesion, and a palpable abdominal mass in the left flank. His laboratory workup was within normal ranges. A multi-slice computed tomography and computed tomography angiogram with contrast outlined a giant left renal artery aneurysm (RAA). A kidney salvage surgery was planned. However, due to ectatic dilatation and large extension of the aneurysm, the affected renal artery branches and renal vein were found unfit for auto-transplantation during the surgical procedure and a total nephrectomy was necessary. Symptoms improved significantly postoperatively and no complications developed. CLINICAL DISCUSSION: RAA is an uncommon finding in NF1 patients. Diagnosis is often dependent on computed tomography angiogram. Management techniques are conservative, endovascular, or surgical. In few surgical cases, a total nephrectomy may be necessary if auto-transplantation is not feasible. CONCLUSION: Despite its rarity, the diagnosis of RAA should be considered in patients with NF1 presenting with flank pain. Moreover, early screening for renal vasculopathies can evade critical surgical outcomes including a total nephrectomy. Hence, the authors recommend a total vascular workup for these patients, consisting of doppler ultrasound and, if necessary, a multi-slice computed tomography with contrast. |
format | Online Article Text |
id | pubmed-10617891 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-106178912023-11-01 Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report Jawad, Ali Hannouneh, Zein Alabdin Soqia, Jameel Al Nahhas, Zaher Ahmed, Adnan Nahas, Mohamad Ali Ann Med Surg (Lond) Case Reports INTRODUCTION AND IMPORTANCE: Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by multiple neurofibromas, café-au-lait spots, and iris hamartomas. The variety of vasculopathies that can occur in NF1 make it difficult for clinicians to accurately follow-up patients. Most cases of vasculopathies are stenotic, and, in few cases, aneurysms may form. CASE PRESENTATION: A 35-year-old male presented with extreme left flank pain for the past 2 days. His physical examination revealed whole-body several café-au-lait skin macules, a subcutaneous lesion, and a palpable abdominal mass in the left flank. His laboratory workup was within normal ranges. A multi-slice computed tomography and computed tomography angiogram with contrast outlined a giant left renal artery aneurysm (RAA). A kidney salvage surgery was planned. However, due to ectatic dilatation and large extension of the aneurysm, the affected renal artery branches and renal vein were found unfit for auto-transplantation during the surgical procedure and a total nephrectomy was necessary. Symptoms improved significantly postoperatively and no complications developed. CLINICAL DISCUSSION: RAA is an uncommon finding in NF1 patients. Diagnosis is often dependent on computed tomography angiogram. Management techniques are conservative, endovascular, or surgical. In few surgical cases, a total nephrectomy may be necessary if auto-transplantation is not feasible. CONCLUSION: Despite its rarity, the diagnosis of RAA should be considered in patients with NF1 presenting with flank pain. Moreover, early screening for renal vasculopathies can evade critical surgical outcomes including a total nephrectomy. Hence, the authors recommend a total vascular workup for these patients, consisting of doppler ultrasound and, if necessary, a multi-slice computed tomography with contrast. Lippincott Williams & Wilkins 2023-09-15 /pmc/articles/PMC10617891/ /pubmed/37915684 http://dx.doi.org/10.1097/MS9.0000000000001329 Text en Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (https://creativecommons.org/licenses/by/4.0/) (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) |
spellingShingle | Case Reports Jawad, Ali Hannouneh, Zein Alabdin Soqia, Jameel Al Nahhas, Zaher Ahmed, Adnan Nahas, Mohamad Ali Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report |
title | Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report |
title_full | Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report |
title_fullStr | Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report |
title_full_unstemmed | Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report |
title_short | Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report |
title_sort | rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617891/ https://www.ncbi.nlm.nih.gov/pubmed/37915684 http://dx.doi.org/10.1097/MS9.0000000000001329 |
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