Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia

Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis. We report such a case of ambiguous genitalia in a 7-year-old female child presenting with clitoromeg...

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Autores principales: Kumar, Ishan, Verma, Ashish, Ojha, Ritu, Aggarwal, Priyanka, Shukla, Ram C, Srivastava, Arvind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Neuroimaging
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036330/
https://www.ncbi.nlm.nih.gov/pubmed/27857458
http://dx.doi.org/10.4103/0971-3026.190423
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author Kumar, Ishan
Verma, Ashish
Ojha, Ritu
Aggarwal, Priyanka
Shukla, Ram C
Srivastava, Arvind
author_facet Kumar, Ishan
Verma, Ashish
Ojha, Ritu
Aggarwal, Priyanka
Shukla, Ram C
Srivastava, Arvind
author_sort Kumar, Ishan
collection PubMed
description Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis. We report such a case of ambiguous genitalia in a 7-year-old female child presenting with clitoromegaly since birth, in which magnetic resonance imaging (MRI) revealed the presence of extensive neurofibromatosis in the clitoris and lumbosacral regions. We emphasize the central role of MRI in evaluation of hormonal and non-hormonal causes of ambiguous genitalia. We further discuss the merits of including MR neurography in the imaging protocol for comprehensive delineation of neurofibromatosis.
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spelling pubmed-50363302016-11-17 Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia Kumar, Ishan Verma, Ashish Ojha, Ritu Aggarwal, Priyanka Shukla, Ram C Srivastava, Arvind Indian J Radiol Imaging Neuroimaging Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis. We report such a case of ambiguous genitalia in a 7-year-old female child presenting with clitoromegaly since birth, in which magnetic resonance imaging (MRI) revealed the presence of extensive neurofibromatosis in the clitoris and lumbosacral regions. We emphasize the central role of MRI in evaluation of hormonal and non-hormonal causes of ambiguous genitalia. We further discuss the merits of including MR neurography in the imaging protocol for comprehensive delineation of neurofibromatosis. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC5036330/ /pubmed/27857458 http://dx.doi.org/10.4103/0971-3026.190423 Text en Copyright: © 2016 Indian Journal of Radiology and Imaging http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Neuroimaging
Kumar, Ishan
Verma, Ashish
Ojha, Ritu
Aggarwal, Priyanka
Shukla, Ram C
Srivastava, Arvind
Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia
title Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia
title_full Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia
title_fullStr Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia
title_full_unstemmed Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia
title_short Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia
title_sort magnetic resonance neurographic confirmation of extensive plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia
topic Neuroimaging
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036330/
https://www.ncbi.nlm.nih.gov/pubmed/27857458
http://dx.doi.org/10.4103/0971-3026.190423
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