scholarly journals Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Rachna Rath ◽  
Sheetal Kaur ◽  
Shadab Ali Baig ◽  
Punyashlok Pati ◽  
Sonalisa Sahoo
Keyword(s):  
Soft Tissue Mass ◽  
Three Dimensional ◽  
Neurofibromatosis Type ◽  
Lytic Lesion ◽  
Type I ◽  
Tissue Mass ◽  
Cross Sectional ◽  
Distinct Disease ◽  
Magnetic Resonance Imaging Mri

Neurofibromatosis type 1 (NF1) is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO) and extraosseous (EO) neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG), three-dimensional computed tomography (3D CT) and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI) helped to identify the solid nature of the lesion and true extent of the soft tissue mass.

Neurofibroma of the hard palate

2021 ◽  
Vol 14 (4) ◽  
pp. e239887
Author(s):  
Bethany Cartwright ◽  
Kenneth Corsar
Keyword(s):  
Soft Tissue ◽  
Hard Palate ◽  
Soft Tissue Mass ◽  
Treatment Options ◽  
Neurofibromatosis Type ◽  
Incisional Biopsy ◽  
Tissue Mass ◽  
Benign Tumours

Neurofibromas are defined as benign tumours arising from peripheral nerve sheaths. Few intraoral palatal cases have been reported. Neurofibromas can occur as part of neurofibromatosis, type 1 (NF1) or type 2 (NF2). A 41-year-old patient presented with a slowly enlarging soft tissue mass on the hard palate. An incisional biopsy was performed, which confirmed the diagnosis of a neurofibroma associated with NF1. It should be considered that there is a chance of malignant transformation. Here, we discuss the clinical features, types, diagnosis, histopathology and treatment options.

scholarly journals Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association

2007 ◽  
Vol 65 (3b) ◽  
pp. 855-857 ◽  
Author(s):  
Andre Carvalho Felício ◽  
Clecio de Oliveira Godeiro-Junior ◽  
Vanderci Borges ◽  
Sonia Maria de Azevedo Silva ◽  
Henrique Ballalai Ferraz
Keyword(s):  
Hemifacial Spasm ◽  
Botulinum Toxin Type A ◽  
Neurofibromatosis Type ◽  
Botulinum Toxin Type ◽  
Type I ◽  
Unique Case ◽  
Chiari Type I Malformation ◽  
Arnold Chiari Malformation ◽  
Magnetic Resonance Imaging Mri

BACKGROUND: The association of hemifacial spasm (HFS), Chiari type I malformation (CIM) and neurofibromatosis type 1 (NF1) has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI) a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects. CONCLUSION:Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.

scholarly journals Kesesuaian MRI 1,0 Tesla untuk Membedakan Spondilitis dan Metastasis Vertebra dengan Konfirmasi Hasil Histopatologi

2015 ◽  
Vol 1 (2) ◽  
pp. 65-72
Author(s):  
Dhanti Erma Widiasi ◽  
Yuyun Yueniwati ◽  
Eviana Norahmawati ◽  
Nanik Setijowati
Keyword(s):  
Soft Tissue Mass ◽  
Histopathological Diagnosis ◽  
Resonance Imaging ◽  
Mr Images ◽  
Tissue Mass ◽  
Cross Sectional ◽  
Discus Intervertebralis ◽  
Vertebral Involvement ◽  
Vertebral Bodies ◽  
Magnetic Resonance Imaging Mri

Background: Magnetic Resonance Imaging (MRI) is the most accurate modality imaging to evaluate vertebral abnormality. Infection and metastatic in musculoskeletal is most commonly found in the vertebra. It is often difcult to di?erentiate between spondylitis and metastatic, both clinically and radiographically, mainly on atypical case.Objective: To analyze the precision of MRI 1,0 Tesla in di?erentiation of radiological imaging between spondylitis and vertebral metastatic with histopathological confrmation.Materials and methods: This is an analytic observational study, with cross-sectional research design. Statistical analysis was performed with Mc Neemar test. Samples were selected by consecutive sampling with 35 patients (15 men, 20 women), 22samples of spondylitis and 13 of samples metastatic which were confrmed by histopathological examination.Result: From 22 samples of spondylitis confrmed by histopathology, only 86% (19 samples) were diagnosed as having spondylitis on MRI, whereas 13 metastatic samples 100% was correctly diagnosed on MRI.Conclusion: Statistically there was no signifcant di?erences between radiology diagnostic using 1,0 Tesla MRI with histopathological diagnosis, p=0,250 (p> 0,05), with tendency MRI 1,0 Tesla is more precise in diagnosing metastatic. MR imagesshow typical fndings in spondylitis such as anterior component corpus vertebral and discus intervertebralis involvement, disk signal abnormalities, paravertebral abscesses and involvement of multiple vertebral bodies sequentially. MR images show typical fndings in metastasis such as anterior and posterior corpus vertebral involvement, paravertebral soft tissue mass and skip lesion.

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.

The Association of Chiari Type I Malformation and Neurofibromatosis Type 1

1993 ◽  
Vol 32 (3) ◽  
pp. 189-190 ◽  
Author(s):  
Joseph Dooley ◽  
Daniel Vaughan ◽  
Michael Riding ◽  
Peter Camfield
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Chiari Malformation ◽  
Neurofibromatosis Type ◽  
Foramen Magnum ◽  
Type I ◽  
Chiari Type ◽  
Chiari Type I Malformation ◽  
Chiari Type I ◽  
Chiari Malformations

The association of neurofibromatosis type 1 (NF1) with Chiari malformations of the cerebellum and brain stem has been reported on only two previous occasions.1,2 The pathogenesis of both conditions has remained unclear, although the Chiari type I malformation is most likely due to hypoplasia of the posterior fossa with subsequent extension of the cerebellum through the foramen magnum.3 NF1 is also associated with a variety of cerebral dysplasias.4 We present a patient with both of these dysplastic lesions whose Chiari malformation was asymptomatic.

scholarly journals A Cross-Sectional Study of Gender Differences in Quality of Life Domains in Patients With Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Geohana Hamoy-Jimenez ◽  
Hadiya Elahmar ◽  
Meg Mendoza ◽  
Raymond Kim ◽  
Vera Bril ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Physical Appearance ◽  
Neurofibromatosis Type ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Appearance Anxiety ◽  
Sf 36

Abstract Background. There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Neurofibromatosis type 1 living in Canada.Methods: This is a cross sectional study of adults with Neurofibromatosis type 1 attending a tertiary NF centre at Toronto General Hospital between January 2016 to December 2017. Demographic and clinical data were collected. We compared scores of generic measures (SF-36, EQ-5D-5L, pain interference) and a disease-specific measure (PedsQL-NF1 module) between women and men. We also assessed the relationship between disease visibility scored by an examiner (Ablon’s visibility index) and self-reported perceived physical appearance, stratified by gender.Results. One hundred and sixty-two participants were enrolled, 92 females and 70 males. Ablon’s index score 1 was in 43% and score 2 in 44%, while only 13% of patients had a score 3. Women had worse scores on the total PedsQL-NF1 scales, and also in the perceived physical appearance, anxiety and emotional health domains. In women, there was a significant association between Ablon’s index and perceived physical appearance, with lower scores with increments in Ablon’s class (ANOVA p<0.001). In men, there was no difference in self-reported physical appearance by Ablon’s index. There were no differences between men and women in the SF-36 or EQ-5D-5L scores.Conclusion. Women with NF1 reported worse NF1-related quality of life than men, with worse perceived physical appearance, anxiety, and mental health. Perceived physical appearance did not always correlate to disease visibility; therefore, healthcare providers should inquire about body image, physical appearance concerns, and mental health, especially among women with NF1.

scholarly journals Spontaneous hemothorax associated with neurofibromatosis type I: A review of the literature

2014 ◽  
Vol 05 (03) ◽  
pp. 269-271 ◽  
Author(s):  
Swaroopa Pulivarthi ◽  
Byron Simmons ◽  
John Shearen ◽  
Murali Krishna Gurram
Keyword(s):  
Surgical Treatment ◽  
Neurofibromatosis Type ◽  
Benign Disease ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Review Of The Literature ◽  
Spontaneous Hemothorax ◽  
Massive Hemothorax ◽  
Fatal Complications

ABSTRACTNeurofibromatosis is generally a benign disease, but has the potential for rare and fatal complications, such as spontaneous hemothorax. We report a case of massive hemothorax due to neurofibroma in a 49-year-old woman with neurofibromatosis type 1. The configuration of the radiological opacity and frank blood withdrawn on thoracentesis should suggest the diagnosis of hemothorax in a patient with neurofibromatosis. Surgical treatment for hemothorax is limited by arterial fragility and the prognosis is relatively poor. Any evidence of aneurysmal disease in the thoracic vessels should be aggressively managed percutaneously by coil embolization to prevent future rupture.

scholarly journals Quality of Life in Romanian Children with Type 1 Diabetes: A Cross-Sectional Survey Using an Interdisciplinary Healthcare Intervention

Healthcare ◽  
2020 ◽  
Vol 8 (4) ◽  
pp. 382
Author(s):  
Constanta Urzeală ◽  
Aura Bota ◽  
Silvia Teodorescu ◽  
Mihaela Vlăiculescu ◽  
Julien S Baker ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Type 1 Diabetes ◽  
Well Being ◽  
Healthcare Intervention ◽  
Type I ◽  
Cross Sectional ◽  
Significant Difference ◽  
Interdisciplinary Healthcare

Background: The purpose of this study was to assess the quality of life in Romanian type 1 diabetes mellitus (T1DM) children attending an early interdisciplinary healthcare intervention. Hypothesis: engaging T1DM children in leisure sports leads to a better quality of life. Methods: This research embeds a cross-sectional observational study, incorporating some clinical characteristics relevant for diabetes management. The Kidscreen 27 questionnaire was issued to 100 T1DM children aged between 7 and 17 years. Parents completed the questionnaire. All subjects received interdisciplinary healthcare in the previous year. Statistics were performed using SPSS, v20. The required sample size of 100 subjects was obtained with a confidence interval of 95% and a sampling error of 0.009. The tests were two-sided, with a type I error set at 0.05. Results: Subjects reached an increased level of physical well-being, psychological well-being, autonomy, parent relationships, peer and social support, and school inclusion. There was a significant difference (p < 0.05) between children who practice leisure activities and children who only participated in physical education (PE) classes, regarding their physical well-being (t = 2.123). ANOVA demonstrated significant differences between age groups regarding physical well-being. Conclusion: The interdisciplinary healthcare intervention increased the efficiency of T1DM management with positive effects on life quality.

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