Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report

Neurofibromatosis is a group of genetic disorders comprising 2 main types: type 1 neurofibromatosis (NF-1) and type 2 neurofibromatosis. The most common form is NF-1, also known as Von Recklinghausen disease. The clinical manifestations and presentation of this condition are variable. In this report...

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Main Authors: Nadia El Mahi, Amal Mojahid, Hajar Siouri, Hamid Ziani, Siham Nasri, Imane Kamaoui, Imane Skiker
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Radiology Case Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S1930043325002183
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author Nadia El Mahi
Amal Mojahid
Hajar Siouri
Hamid Ziani
Siham Nasri
Imane Kamaoui
Imane Skiker
author_facet Nadia El Mahi
Amal Mojahid
Hajar Siouri
Hamid Ziani
Siham Nasri
Imane Kamaoui
Imane Skiker
author_sort Nadia El Mahi
collection DOAJ
description Neurofibromatosis is a group of genetic disorders comprising 2 main types: type 1 neurofibromatosis (NF-1) and type 2 neurofibromatosis. The most common form is NF-1, also known as Von Recklinghausen disease. The clinical manifestations and presentation of this condition are variable. In this report, we present a unique case of a 10-year-old child with NF-1 who presented with scrotal swelling associated with progressive penile enlargement. After a thorough evaluation, the diagnosis of a plexiform neurofibroma was made. MRI evaluation revealed an intrapelvic extension of the tumor affecting the bladder and spermatic cords. This rare clinical presentation makes this case particularly interesting and highlights the diverse manifestations of Von Recklinghausen disease.
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institution OA Journals
issn 1930-0433
language English
publishDate 2025-06-01
publisher Elsevier
record_format Article
series Radiology Case Reports
spelling doaj-art-c497545ac3f94a659ef0804ddcfd197b2025-08-20T02:16:55ZengElsevierRadiology Case Reports1930-04332025-06-012063116311910.1016/j.radcr.2025.03.008Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case reportNadia El Mahi0Amal Mojahid1Hajar Siouri2Hamid Ziani3Siham Nasri4Imane Kamaoui5Imane Skiker6Corresponding author.; Department of Radiology, Mohammed VI University Hospital, Faculty of Medicine, University Mohammed First, Oujda, MoroccoDepartment of Radiology, Mohammed VI University Hospital, Faculty of Medicine, University Mohammed First, Oujda, MoroccoDepartment of Radiology, Mohammed VI University Hospital, Faculty of Medicine, University Mohammed First, Oujda, MoroccoDepartment of Radiology, Mohammed VI University Hospital, Faculty of Medicine, University Mohammed First, Oujda, MoroccoDepartment of Radiology, Mohammed VI University Hospital, Faculty of Medicine, University Mohammed First, Oujda, MoroccoDepartment of Radiology, Mohammed VI University Hospital, Faculty of Medicine, University Mohammed First, Oujda, MoroccoDepartment of Radiology, Mohammed VI University Hospital, Faculty of Medicine, University Mohammed First, Oujda, MoroccoNeurofibromatosis is a group of genetic disorders comprising 2 main types: type 1 neurofibromatosis (NF-1) and type 2 neurofibromatosis. The most common form is NF-1, also known as Von Recklinghausen disease. The clinical manifestations and presentation of this condition are variable. In this report, we present a unique case of a 10-year-old child with NF-1 who presented with scrotal swelling associated with progressive penile enlargement. After a thorough evaluation, the diagnosis of a plexiform neurofibroma was made. MRI evaluation revealed an intrapelvic extension of the tumor affecting the bladder and spermatic cords. This rare clinical presentation makes this case particularly interesting and highlights the diverse manifestations of Von Recklinghausen disease.http://www.sciencedirect.com/science/article/pii/S1930043325002183ChildVon RecklinghausenScrotumPenisBladderSpermatic cord
spellingShingle Nadia El Mahi
Amal Mojahid
Hajar Siouri
Hamid Ziani
Siham Nasri
Imane Kamaoui
Imane Skiker
Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report
Radiology Case Reports
Child
Von Recklinghausen
Scrotum
Penis
Bladder
Spermatic cord
title Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report
title_full Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report
title_fullStr Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report
title_full_unstemmed Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report
title_short Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report
title_sort rare uro genital manifestations of von recklinghausen disease scrotal penile and intrapelvic involvement with bladder and spermatic cord extension a case report
topic Child
Von Recklinghausen
Scrotum
Penis
Bladder
Spermatic cord
url http://www.sciencedirect.com/science/article/pii/S1930043325002183
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