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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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Autores principales: Jawad, Ali, Hannouneh, Zein Alabdin, Soqia, Jameel, Al Nahhas, Zaher, Ahmed, Adnan, Nahas, Mohamad Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
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.
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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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