Unusual cause of laryngeal dyspnea and swallowing troubles in a 2-year old child

Plexiform neurofibromas are rare benign tumors developed from peripheral nervous system often associated with neurofibromatosis type 1. We report the case of multifocal plexiform neurofibromas in a 2-year-old child with cervical mass obstructing the trachea causing respiratory distress. A cervical ultrasound examination was performed followed by enhanced CT and MRI. Imaging revealed an expansive cervical mass extended from the base of the skull to the mediastinum associated with similar pelvic and sacral foraminal masses. The target like MRI aspect on T2-weighted images was suggestive of the neural origin. Biopsy under ultrasound control confirmed the diagnosis of plexiform neurofibroma.

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Isolated Plexiform Neurofibroma of the Tongue

Journal of Laboratory Physicians ◽

10.4103/0974-2727.119867 ◽

2013 ◽

Vol 5 (02) ◽

pp. 127-129 ◽

Cited By ~ 5

Author(s):

Abhishek Sharma ◽

Parama Sengupta ◽

Anjan KR Das

Keyword(s):

Malignant Transformation ◽

Rare Case ◽

Benign Tumor ◽

Clinical Presentation ◽

Plexiform Neurofibroma ◽

Common Variant ◽

Benign Tumors ◽

Plexiform Neurofibromas ◽

Neural Origin ◽

Rare Benign Tumor

ABSTRACTNeurofibromas (NF) are benign tumors of neural origin, of which roughly 90% appear as solitary lesions. They are classified into cutaneous, subcutaneous, and plexiform subtypes. Plexiform neurofibromas are the least common variant and usually are pathognomonic for NF I. Here, we present a very rare case of isolated plexiform neurofibroma with a painless enlarging mass of the tongue of an 11-year-old girl. This rare benign tumor has the potential for malignant transformation, and the diagnosis was difficult owing to the patient's age and to the insidious clinical presentation. The present case is a diffuse isolated plexiform neurofibroma of the tongue that was not associated with neurofibromatosis that was treated with intraoral surgery.

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Progesterone and Estrogen Receptors in Neurofibromas of Patients with NF1

Clinical medicine Pathology ◽

10.4137/cpath.s1002 ◽

2008 ◽

Vol 1 ◽

pp. CPath.S1002 ◽

Cited By ~ 9

Author(s):

Mauro Geller ◽

Spyros G.E. Mezitis ◽

Fabio Pereira Nunes ◽

Marcia G. Ribeiro ◽

Alexandra Prufer de Q.C. Araújo ◽

...

Keyword(s):

Nervous System ◽

Genetic Disorder ◽

Plexiform Neurofibroma ◽

Progesterone Receptors ◽

Neurofibromatosis Type ◽

Benign Tumors ◽

Positive Staining ◽

Tissue Samples ◽

Plexiform Neurofibromas

Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is a genetic disorder affecting the growth of cells in nervous system. One of the most remarkable characteristics of this disease is the development of benign tumors of the nervous system (neurofibromas). The purpose of this study was to test tissue samples taken from neurofibromas and plexiform neurofibromas of NF1 patients for the presence of estrogen and progesterone receptors. We used previously collected samples from patients registered in the database of the Centro Nacional de Neurofibromatose (CNNF-Brazil). Samples from twenty-five patients in the database presenting plexiform neurofibromas (N1 group) and 25 samples from the same database from patients presenting neurofibromas (N2 group) were tested. We observed positive staining for progesterone receptors in 13 of the neurofibroma samples and 19 of the plexiform neurofibroma samples. Among the neurofibroma samples, we observed one sample with positive estrogen receptor staining, but none of the plexiform neurofibroma samples showed positive staining. We suggest further studies to investigate in greater depth possible hormonal influences on the development and growth of neurofibromas and plexiform neurofibromas in NF1.

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An Exceptional Case of Intraparotid Plexiform Neurofibroma Originating from Autonomic Fibers of the Auriculotemporal Nerve

Case Reports in Medicine ◽

10.1155/2017/8327215 ◽

2017 ◽

Vol 2017 ◽

pp. 1-5 ◽

Cited By ~ 3

Author(s):

Sarantis Blioskas ◽

Sotiris Sotiriou ◽

Katerina Rizou ◽

Triantafyllia Koletsa ◽

Petros Karkos ◽

...

Keyword(s):

Parotid Gland ◽

Plexiform Neurofibroma ◽

Surgical Excision ◽

Neurofibromatosis Type ◽

Exceptional Case ◽

Benign Tumors ◽

First Case ◽

Superficial Lobe ◽

The Right ◽

Auriculotemporal Nerve

Plexiform neurofibromas are benign tumors that tend to occur in patients suffering from neurofibromatosis type 1 (NF-1). This report addresses a rare case where the tumor affected the parotid gland, deriving almost exclusively from the peripheral portion of the facial nerve. A 6-year-old male was referred to us complaining about a gradually enlarging swelling over the right parotid area. Imaging localized the lesion to the superficial lobe of the parotid gland, suggesting a neurofibroma. Cosmetic disfigurement and a functional deficit led us to perform complete surgical resection. Meticulous surgical dissection as well as auriculotemporal nerve origin made complete extirpation possible with almost zero morbidity and ensured alleviation of both aesthetic impairment and pain. This is the first case of an intraparotid PN in a pediatric NF-1 patient, which originated from branches of the auriculotemporal nerve and particularly from fibers of the autonomic nervous system. Radical surgical excision was decided according to established decision-making algorithms.

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Trametinib Induces Neurofibroma Shrinkage and Enables Surgery

Neuropediatrics ◽

10.1055/s-0039-1691830 ◽

2019 ◽

Vol 50 (05) ◽

pp. 300-303 ◽

Cited By ~ 9

Author(s):

Pia Vaassen ◽

Nikola Dürr ◽

Andreas Röhrig ◽

Rainer Willing ◽

Thorsten Rosenbaum

Keyword(s):

Vertebral Column ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Mek Inhibitor ◽

Suppressor Gene ◽

Complete Disappearance ◽

Therapeutic Success ◽

Mek Inhibitors ◽

Plexiform Neurofibromas ◽

Peripheral Nerve Sheath Tumors

AbstractPlexiform neurofibromas are congenital peripheral nerve sheath tumors characteristic of neurofibromatosis type 1 (NF1)—a frequent neurocutaneous disorder caused by mutations of the NF1 tumor suppressor gene. Since plexiform neurofibromas are a major cause of the burden of disease and may also progress to malignancy, many efforts have been undertaken to find a cure for these tumors. However, neither surgery nor medication has so far produced a breakthrough therapeutic success. Recently, a clinical phase I study reported significant shrinkage of plexiform neurofibromas following treatment with the MEK inhibitor selumetinib. Here, we report an 11-year-old NF1 patient with a large plexiform neurofibroma of the neck that had led to a sharp-angled kinking of the cervical spine and subsequent myelopathy. Although surgical stabilization of the cervical vertebral column was urgently recommended, the vertebral column was inaccessible due to extensive tumor growth. In this situation, treatment with the MEK inhibitor trametinib was initiated which resulted in a 22% reduction in tumor volume after 6 months of therapy and finally enabled surgery. These data show that MEK inhibitors may not lead to complete disappearance of NF1-associated plexiform neurofibromas but can be an essential step in a multimodal therapeutic approach for these tumors. The course of our patient suggests that MEK inhibitors are likely to play a significant role in providing a cure for one of the most devastating manifestations of NF1.

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Multidisciplinary Management of a Giant Plexiform Neurofibroma by Double Sequential Preoperative Embolization and Surgical Resection

Case Reports in Neurological Medicine ◽

10.1155/2013/987623 ◽

2013 ◽

Vol 2013 ◽

pp. 1-8 ◽

Cited By ~ 6

Author(s):

Roberto Vélez ◽

Sergi Barrera-Ochoa ◽

David Barastegui ◽

Mercedes Pérez-Lafuente ◽

Cleofe Romagosa ◽

...

Keyword(s):

Surgical Resection ◽

Management Strategies ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Postoperative Management ◽

Benign Tumors ◽

Preoperative Embolization ◽

Multidisciplinary Management ◽

Giant Neurofibroma

Plexiform neurofibromas are benign tumors originating from subcutaneous or visceral peripheral nerves, which are usually associated with neurofibromatosis type 1. Giant neurofibromas are very difficult to manage surgically as they are extensively infiltrative and highly vascularized. These types of lesions require complex preoperative and postoperative management strategies. This case report describes a 22-year-old female with a giant plexiform neurofibroma of the lower back and buttock who underwent pre-operative embolization and intraoperative use of a linear cutting stapler system to assist with haemostasis during the surgical resection. Minimal blood transfusion was required and the patient made a good recovery. This case describes how a multidisciplinary management of these large and challenging lesions is technically feasible and appears to be beneficial in reducing perioperative blood loss and morbidity. Giant neurofibroma is a poorly defined term used to describe a neurofibroma that has grown to a significant but undefined size. Through a literature review, we propose that the term “giant neurofibroma” be used for referring to those neurofibromas weighing 20% or more of the patient's total corporal weight.

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Clinical, pathologic, and radiologic response in patients with neurofibromatosis type 2 (NF2) undergoing bevacizumab treatment.

Journal of Clinical Oncology ◽

10.1200/jco.2013.31.15_suppl.e13049 ◽

2013 ◽

Vol 31 (15_suppl) ◽

pp. e13049-e13049

Author(s):

Niamh Coleman ◽

Megan Greally ◽

Lynda O' Riordan ◽

Teresa Doyle ◽

Oscar S. Breathnach ◽

...

Keyword(s):

Hearing Loss ◽

Energy Levels ◽

Neurofibromatosis Type ◽

Vestibular Schwannomas ◽

Response To Treatment ◽

Benign Tumors ◽

Subjective Response ◽

Mri Imaging ◽

Profound Hearing Loss ◽

Bevacizumab Treatment

e13049 Background: NF2 is a rare inherited genetic condition characterized by multiple "benign" tumors in the peripheral and central nervous system. Profound hearing loss as a result of bilateral vestibular schwannomas is a major debilitating complication with a profound effect on quality of life. Vascular endothelial growth factor (VEGF) has been shown to be produced by vestibular schwannoma tumor cells. Bevacizumab, a humanized monoclonal antibody against VEGF, has been proposed as a treatment for patients with advanced NF2, who are poor candidates for surgery and radiation therapy. The aim of this study was to investigate and assess the benefit of treatment with bevacizumab in the treatment of patients with advanced NF2. Methods: Five patients with inoperable NF2 were assessed prospectively from 03/12-01/13. Pathological assessment of tissue for vascularity was performed in each of the patients’ tissue. Objective assessments, including audiogram and MRI brain, were performed pre- and during therapy. Qualitative assessments were undertaken to assess subjective response to treatment. Results: We identified 5 patients with advanced NF2 [n=5], 3 female 2 male with a median age 40 years [range 28 – 52] as outlined in the Table. Tumor-volume reduction of >20% was noted on MRI imaging in the vestibular schwannomas of 2 patients. 2 patients showed objective improvement on audiogram with subjective hearing improvement also noted. Other subjective responses noted include increased energy levels, less headaches, better concentration. Conclusions: Bevacizumab treatment in patients with advanced NF2 resulted in some symptomatic improvement, tumour shrinkage, improvement in disability. Patients with vestibular schwannomas appeared to receive the most benefit, and so in terms of palliation, the benefits may be most significant in patients with specific disabilities, such as hearing loss. [Table: see text]

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Oral Manifestations of Neurofibromatosis Type 1 in Children with Facial Plexiform Neurofibroma: Report of Three Cases

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.39.2.972220046g774534 ◽

2015 ◽

Vol 39 (2) ◽

pp. 168-171 ◽

Cited By ~ 6

Author(s):

KS Cunha ◽

RE Rozza-de-Menezes ◽

RM Andrade ◽

LMS Almeida ◽

MER Janini ◽

...

Keyword(s):

Trigeminal Nerve ◽

Neurofibromatosis Type 1 ◽

Soft Tissues ◽

Genetic Disorder ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Oral Manifestations ◽

Plexiform Neurofibromas ◽

Organ Systems

Neurofibromatosis type 1 (NF1) is a common autosomal genetic disorder with a prevalence of 1 in 3,000 births. NF1 is a complex syndrome characterized by many abnormalities and may affect all organ systems. Oral manifestations of NF1 occur frequently, but reports including NF1 children with facial plexiform neurofibromas and oral alterations are scant. Facial plexiform neurofibroma may cause asymmetry, disfigurement and usually arises from the trigeminal nerve. The aim of this paper is to to report three pediatric NF1 cases with facial plexiform neurofibroma presenting with oral manifestations, which were evaluated clinically and radiographically, and also to briefly review the literature. Patients presented with changes in the oral soft tissues, jaws, and teeth ipsilateral to the tumor.

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A Child Presented with Clitoromegaly in Context with Neurofibromatosis Type 1

Austin Journal of Clinical Case Reports ◽

10.26420/austinjclincaserep.2021.1191 ◽

2021 ◽

Vol 8 (1) ◽

Author(s):

Zeindine Sirena ◽

◽

Al Ebrahem Asad ◽

Keyword(s):

Neurofibromatosis Type 1 ◽

Genetic Disease ◽

Genetic Disorder ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Genetic Mutation ◽

Benign Tumors ◽

Recklinghausen Disease ◽

Von Recklinghausen

Neurofibromatosis type 1, also called Von Recklinghausen Disease is a genetic disorder characterized by the development of multiple benign tumors affecting the skin and nervous system. It is a genetic disease with a prevalence of one case in 3000 births. The cause of VRD is a genetic mutation [1-4]. In half of all cases of NF1, the faulty gene is passed from a parent to their child. Clitoromegaly presenting in childhood can be congenital or acquired. Nonhormonal causes like NF1, epidermoid cysts, tumor syndromes have been reported [5]. Clitoris enlargement is a frequently seen congenital malformation, but acquired clitoral enlargement is rarely detected. While most cases of VRD are the result of a genetic mutation in the neurofibromin gene, there are also acquired cases due to spontaneous mutations [4]. The pathological alterations behind it begin in the embryonic period, prior to differentiation of the neural crest. We report a case of 6.5 year - old - female admitted for clitoromegaly and an apparent deformity of the genital organs. The girl has been diagnosed with clitoromegaly in the context of NF1 Disease. This patient was successfully treated by clitoroplasty. The biopsied clitoral tissue was sent to pathology and revealed plexiform neurofibroma.

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