scholarly journals Bilateral Occipital Neuralgia in a Patient with Neurofibromatosis Type 1: A Case Report

2021 ◽  
Vol 37 (2) ◽  
pp. 77-80
Author(s):  
Ji-Young Kim ◽  
Sungmi Jeon ◽  
Sang Wha Kim
Keyword(s):  
Surgical Treatment ◽  
Neurofibromatosis Type 1 ◽  
Histopathological Examination ◽  
Correct Diagnosis ◽  
Neurofibromatosis Type ◽  
Alpine Skiing ◽  
Occipital Neuralgia ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri

Plexiform neurofibromas (PNFs) represent an uncommon variant (30%) of neurofibromatosis type 1 (NF-1), in which neurofibromas arise from multiple nerves as bulging and deforming masses involving connective tissue and skin folds. We report the case of a 17-year-old man with known NF-1 presenting with bilateral occipital neuralgia that began in his late adolescence. His chief complaint was radiating pain in the occiput induced by protective helmet wear when riding alpine skiing. Craniofacial magnetic resonance imaging (MRI) confirmed the presence of fusiform masses arising from the bilateral greater occipital nerves. Histopathological examination of the biopsy samples showed PNFs. After surgical treatment, the patient's symptoms completely improved. Unlike cutaneous neurofibromas, PNFs have different clinical characteristics and have the risk of malignant mutations. Correct diagnosis and adequate surgical treatment are necessary for PNFs.

scholarly journals Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 218
Author(s):  
Antonella Cacchione ◽  
Alessia Carboni ◽  
Mariachiara Lodi ◽  
Rita De Vito ◽  
Andrea Carai ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Correct Diagnosis ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Detection Techniques ◽  
Life Threatening ◽  
Magnetic Resonance Imaging Mri ◽  
Diagnostic Work ◽  
Radiological Methods

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

Pseudoaneurysm of the Left Common Carotid Artery With Neurofibromatosis Type 1

2020 ◽  
Vol 54 (6) ◽  
pp. 549-552
Author(s):  
Tadashi Umeno ◽  
Takashi Shuto ◽  
Hirofumi Anai ◽  
Tomoyuki Wada ◽  
Takayuki Kawashima ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Neurofibromatosis Type 1 ◽  
Common Carotid Artery ◽  
Arterial Wall ◽  
Histopathological Examination ◽  
Artery Aneurysm ◽  
Neurofibromatosis Type ◽  
Left Common Carotid Artery ◽  
Risk Of Rupture

We describe a 54-year-old man with neurofibromatosis type 1 who presented with a left-sided neck mass. Computed tomography demonstrated a left common carotid artery aneurysm (51 × 33 mm). Surgery was performed because of the risk of rupture. The left common carotid artery was found to be a huge aneurysmal dilatation, and the arterial wall partially collapsed and extensively adherent to the surrounding tissues. Left common carotid artery to internal carotid artery bypass grafting was performed with a reversed saphenous vein graft. Histopathological examination revealed vascular fragility of the left carotid arterial wall.

scholarly journals Surgical Treatment of Dystrophic Spinal Curves Caused by Neurofibromatosis Type 1

Medicine ◽  
2016 ◽  
Vol 95 (14) ◽  
pp. e3292 ◽  
Author(s):  
Xiong Zhao ◽  
Jun Li ◽  
Lei Shi ◽  
Liu Yang ◽  
Zi-xiang Wu ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Clonidine suppression testing for pheochromocytoma in neurofibromatosis type 1

2019 ◽  
Vol 12 (6) ◽  
pp. e228263
Author(s):  
WingYee Wan ◽  
Bichle Nguyen ◽  
Sky Graybill ◽  
Jonathan Kim
Keyword(s):  
Surgical Treatment ◽  
General Population ◽  
Neurofibromatosis Type 1 ◽  
False Positive ◽  
Neurofibromatosis Type ◽  
Aided Diagnosis ◽  
Positive Results ◽  
Adrenal Nodule

Compared with the general population, rates of pheochromocytoma are higher in neurofibromatosis type 1 (NF1) patients. However, pheochromocytoma testing is often plagued by false positive results. Here we present a patient with NF1, elevated urinary metanephrine levels, and an indeterminate adrenal nodule. Clonidine suppression testing aided diagnosis and led to definitive surgical treatment that confirmed a pheochromocytoma. Pheochromocytoma screening and clonidine suppression testing can both aid in the evaluation for catecholamine-secreting tumours.

scholarly journals Neurofibromatosis Type 1 with Severe Dystrophic Kyphosis: Surgical Treatment and Prognostic Analysis of 27 Patients

2020 ◽  
Vol 12 (6) ◽  
pp. 1923-1940
Author(s):  
Siyi Cai ◽  
Ye Tian ◽  
Guixing Qiu ◽  
Jianguo Zhang ◽  
Jianxiong Shen ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Prognostic Analysis

scholarly journals The genetic predisposition to and histogenesis of neurofibromas and neurofibrosarcoma in neurofibromatosis Type 1

2007 ◽  
Vol 22 (6) ◽  
pp. 1-11 ◽  
Author(s):  
Vincent M. Riccardi
Keyword(s):  
Surgical Treatment ◽  
Genetic Predisposition ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Specific Function ◽  
Nerve Sheath ◽  
Different Types

The author addresses the issue of neurofibroma classification and implications for treatment. He emphasizes the importance of understanding that not all neurofibromas are the same and that the key differences between the types of neurofibromas involve which portions of the nerve sheath contribute to the distinctive behavior of the different types of lesions. Endoneurial neurofibromas derive from cellular elements ordinarily restricted to the endoneurium. Perineurial neurofibromas arise within individual fascicles of a nerve and are largely confined thereby, precluding a breach of the epineurium. Epineurial neurofibromas are contained only by the epineurium, and ultimately that portion of the nerve sheath is breached by these lesions. Whether the perineurium is present or breached becomes the key element for exploiting this approach to neurofibroma origins, behaviors, and treatment, surgical and medical. With respect to surgical treatment, perineurial neurofibromas will have clean planes of dissection about the involved nerve. In contrast, endoneurial and epineurial neurofibromas infiltrate adjacent tissues, leading to surgical challenges. With respect to pharmaceutical approaches, the integrity of the perineurium is likely to prove critical: a specific function of the perineurium is to serve as a barrier to various materials, microbiological or chemical. Thus, drugs that might be effective when the perineurium is absent or rent may be less effective (or not effective at all) if the perineurium is intact, as is expected in cases of perineurial neurofibromas.

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