Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 451
Filtrar
1.
J Comput Assist Tomogr ; 44(6): 928-940, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33196600

RESUMO

We aim to review the imaging appearance of peripheral nerve sheath tumors (PNSTs) of head and neck according to updated fourth edition of World Health Organization classification. Peripheral nerve sheath tumor can be sporadic or associated with neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Schwannoma is the most common benign PNST that can be intracranial or extracranial and appears heterogeneous reflecting its histologic composition. Melanotic schwannoma is a different entity with high prediction of malignancy; it shows hypointense signal on T2-weighted image. Neurofibroma can present by localized, plexiform, or diffuse lesion. It usually appears homogeneous or shows a characteristic target sign. Perineurioma can be intraneural seen with the nerve fiber or extraneural appearing as a mass. Solitary circumscribed neuroma and neurothekeoma commonly present as dermal lesions. Nerve sheath myxoma may exhibit high signal on T1 weighted image. Benign triton tumors can be central, aggressive lesion, or peripheral nonaggressive lesion. Granular cell tumor shows hypointense signal on T2 weighted image. Neuroglial heterotopia most commonly occurs in the nasal cavity. Ectopic meningioma arises from ectopic arachnoid cells in the neck. In hybrid PNST, combined histological features of benign PNST occur in the same lesion. Malignant PNSTs are rare with an aggressive pattern. Computed tomography and magnetic resonance imaging are complementary studies to determine the location and extent of the tumor. Advanced magnetic resonance sequences, namely, diffusion-weighted imaging and dynamic contrast enhancement, can help in differentiation of benign from malignant PNST.


Assuntos
Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Neoplasias da Bainha Neural/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neurofibroma/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Diagnóstico Diferencial , Cabeça/diagnóstico por imagem , Humanos , Pescoço/diagnóstico por imagem , Organização Mundial da Saúde
2.
World Neurosurg ; 139: 31-38, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32289509

RESUMO

BACKGROUND: Tumors arising from oculomotor nerve are rare, with few cases reported in the literature. Generally, whereas schwannomas are well encapsulated tumors, neurofibromas tend to invade the entire nerve fibers. These differences influence surgical resection and neurological clinical outcome, with neurofibroma often requiring the sacrifice of the nerve. Accordingly, an incorrect preoperative diagnosis can lead to incomplete patient counseling before surgery. CASE DESCRIPTION: We report 2 cases: a patient with oculomotor schwannoma and a patient with oculomotor neurofibroma. After tumor resection, the patient with a diagnosis of schwannoma recovered with 3rd nerve palsy, while patient with the neurofibroma developed a complete oculomotor nerve deficit. For each patient, surgical strategy and neurological outcome are elucidated in relation with differences in preoperative magnetic resonance imaging and histology. CONCLUSIONS: To the best of our knowledge, this is the first report of an oculomotor neurofibroma. When an oculomotor nerve tumor is suspected, a careful preoperative evaluation of magnetic resonance imaging guides in distinguishing the different histology, in selecting the treatment strategy, and in correctly informing the patient on expected postoperative neurologic outcome.


Assuntos
Neoplasias dos Nervos Cranianos/cirurgia , Neurilemoma/cirurgia , Neurofibroma/cirurgia , Doenças do Nervo Oculomotor/cirurgia , Adulto , Seio Cavernoso/diagnóstico por imagem , Neoplasias dos Nervos Cranianos/complicações , Neoplasias dos Nervos Cranianos/diagnóstico por imagem , Neoplasias dos Nervos Cranianos/patologia , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Imagem por Ressonância Magnética , Neurilemoma/complicações , Neurilemoma/diagnóstico por imagem , Neurilemoma/patologia , Neurofibroma/diagnóstico por imagem , Neurofibroma/patologia , Doenças do Nervo Oculomotor/complicações , Doenças do Nervo Oculomotor/diagnóstico por imagem , Doenças do Nervo Oculomotor/patologia , Recuperação de Função Fisiológica , Resultado do Tratamento , Derivação Ventriculoperitoneal
3.
Neurology ; 94(24): e2521-e2531, 2020 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-32345730

RESUMO

OBJECTIVE: To investigate the genotype-phenotype correlation between neurofibromatosis 1 (NF1) germline mutations and imaging features of neurofibromas on whole-body MRI (WBMRI) by using radiomics image analysis techniques. MATERIALS AND METHODS: Twenty-nine patients with NF1 who had known germline mutations determined by targeted next-generation sequencing were selected from a previous WBMRI study using coronal short tau inversion recovery sequence. Each tumor was segmented in WBMRI and a set of 59 imaging features was calculated using our in-house volumetric image analysis platform, 3DQI. A radiomics heatmap of 59 imaging features was analyzed to investigate the per-tumor and per-patient associations between the imaging features and mutation domains and mutation types. Linear mixed-effect models and one-way analysis of variance tests were performed to assess the similarity of tumor imaging features within mutation groups, between mutation groups, and between randomly selected groups. RESULTS: A total of 218 neurofibromas (97 discrete neurofibromas and 121 plexiform neurofibromas) were identified in 19 of the 29 patients. The unsupervised hierarchical clustering in heatmap analysis revealed 6 major image feature patterns that were significantly correlated with gene mutation domains and types with strong to very strong associations of genotype-phenotype correlations in both per-tumor and per-patient studies (p < 0.05, Cramer V > 0.5), whereas tumor size and locations showed no correlations with imaging features (p = 0.79 and p = 0.42, respectively). The statistical analyses revealed that the number of significantly different features (SDFs) within mutation groups were significantly lower than those between mutation groups (mutation domains: 10.9 ± 9.5% vs 31.9 ± 23.8% and mutation types: 31.8 ± 30.7% vs 52.6 ± 29.3%). The first and second quartile p values of within-patient groups were more than 2 times higher than those between-patient groups. However, the numbers of SDFs between randomly selected groups were much lower (approximately 5.2%). CONCLUSION: This preliminary study identified the NF1 radiogenomics linkage between NF1 causative mutations and MRI radiomic features, i.e., the correlation between NF1 genotype and imaging phenotype on WBMRI.


Assuntos
Imagem por Ressonância Magnética , Neurofibromatose 1/diagnóstico por imagem , Neurofibromatose 1/genética , Adulto , Feminino , Estudos de Associação Genética , Genótipo , Mutação em Linhagem Germinativa/genética , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Neurofibroma/diagnóstico por imagem , Fenótipo , Imagem Corporal Total
4.
Sci Rep ; 10(1): 5046, 2020 03 19.
Artigo em Inglês | MEDLINE | ID: mdl-32193437

RESUMO

Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant disease with variable clinical presentations. Large animal models are useful to help dissect molecular mechanisms, determine relevant biomarkers, and develop effective therapeutics. Here, we studied a NF1 minipig model (NF1+/ex42del) for the first 12 months of life to evaluate phenotype development, track disease progression, and provide a comparison to human subjects. Through systematic evaluation, we have shown that compared to littermate controls, the NF1 model develops phenotypic characteristics of human NF1: [1] café-au-lait macules, [2] axillary/inguinal freckling, [3] shortened stature, [4] tibial bone curvature, and [5] neurofibroma. At 4 months, full body computed tomography imaging detected significantly smaller long bones in NF1+/ex42del minipigs compared to controls, indicative of shorter stature. We found quantitative evidence of tibial bowing in a subpopulation of NF1 minipigs. By 8 months, an NF1+/ex42del boar developed a large diffuse shoulder neurofibroma, visualized on magnetic resonance imaging, which subsequently grew in size and depth as the animal aged up to 20 months. The NF1+/ex42del minipig model progressively demonstrates signature attributes that parallel clinical manifestations seen in humans and provides a viable tool for future translational NF1 research.


Assuntos
Modelos Animais de Doenças , Neurofibromatose 1/diagnóstico por imagem , Neurofibromatose 1/patologia , Fenótipo , Animais , Progressão da Doença , Humanos , Imagem por Ressonância Magnética , Neurofibroma/diagnóstico por imagem , Neurofibroma/patologia , Suínos , Porco Miniatura , Tíbia/diagnóstico por imagem , Tíbia/patologia , Fatores de Tempo , Tomografia Computadorizada por Raios X , Pesquisa Médica Translacional
6.
Can Assoc Radiol J ; 71(2): 161-173, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32063006

RESUMO

Imaging studies of the hands and fingers are common, and radiologists are generally comfortable with traumatic and degenerative conditions which arise frequently in daily practice. However, a variety of common and uncommon soft-tissue tumors also occur in the hand, the appropriate diagnosis of which can be a source of confusion for both clinicians and radiologists. These lesions often have overlapping imaging characteristics; however, a structured approach can help provide a focused differential diagnosis and impact further workup and management. We discuss several such tumors, categorizing them as cystic-appearing, noncystic masses along tendons and aponeuroses, adipocytic tumors, vascular lesions, and miscellaneous lesions with imaging features that can aid diagnosis.


Assuntos
Fibroma/diagnóstico por imagem , Tumor de Células Gigantes de Bainha Tendinosa/diagnóstico por imagem , Tumor Glômico/diagnóstico por imagem , Lipoma/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neurofibroma/diagnóstico por imagem , Sarcoma Sinovial/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Malformações Arteriovenosas/diagnóstico por imagem , Diagnóstico Diferencial , Cisto Epidérmico/diagnóstico por imagem , Fasciite/diagnóstico por imagem , Cistos Glanglionares/diagnóstico por imagem , Mãos , Humanos , Imagem por Ressonância Magnética , Radiografia , Cisto Sinovial/diagnóstico por imagem , Ultrassonografia
7.
Korean J Radiol ; 21(3): 341-355, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32090527

RESUMO

Ultrasonography (US) is usually the first imaging examination performed to evaluate palpable or visible superficial soft tissue lesions that are common in children. Although clinical assessments, such as age at presentation, clinical course, and overlying skin discoloration, are important for the differentiation of pediatric soft tissue lesions, US allows a specific diagnosis of some typical benign lesions and helps in guiding further investigation since it provides detailed information about the lesion location, characterization including solid versus cystic, vascularity, and compressibility. Therefore, sufficient knowledge of the normal anatomy, proper ultrasonographic techniques, and the imaging findings of common and uncommon soft tissue lesions in children are crucial for accurate assessment and management of patients. In this article, we review the techniques and imaging findings focusing on the ultrasonographic features of a variety of superficial soft tissue lesions detected in children.


Assuntos
Neoplasias de Tecidos Moles/diagnóstico , Ultrassonografia/métodos , Adolescente , Criança , Pré-Escolar , Fasciite/diagnóstico , Fasciite/diagnóstico por imagem , Feminino , Hemangioendotelioma/diagnóstico , Hemangioendotelioma/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Síndrome de Kasabach-Merritt/diagnóstico , Síndrome de Kasabach-Merritt/diagnóstico por imagem , Lipoblastoma/diagnóstico , Lipoblastoma/diagnóstico por imagem , Masculino , Miofibromatose/diagnóstico , Miofibromatose/diagnóstico por imagem , Neurofibroma/diagnóstico , Neurofibroma/diagnóstico por imagem , Sarcoma de Kaposi/diagnóstico , Sarcoma de Kaposi/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Malformações Vasculares/diagnóstico , Malformações Vasculares/diagnóstico por imagem
8.
Isr Med Assoc J ; 22(1): 53-59, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31927807

RESUMO

BACKGROUND: Primary retroperitoneal neoplasms (PRN) arise from diverse retroperitoneal tissues. Soft tissue sarcomas (STS) comprise the majority and are well studied. Other non-sarcomatous PRN are very rare and less familiar. OBJECTIVES: To evaluate the clinicopathologic and radiologic features of non-sarcomatous PRN, as well as the outcome of complete tumor resection (TR). METHODS: Retrospective data were collected on consecutive patients (June 2006 to January 2015) who underwent resection of retroperitoneal lesions at our department. Final pathology of non-sarcomatous PRN was included. RESULTS: The study population included 36 patients (26% with PRN). PRN were neurogenic (17%), fat-containing (3%), and cystic (6%). The preoperative diagnosis was correct in only 28%. All patients underwent TR via laparotomy (72%) or laparoscopy (28%), for mean operative time of 120 ± 46 minutes. En bloc organ resection was performed in 11%. Complete TR was achieved in 97%. Intra-operative spillage occurred in 8%. Intra-operative, 90-day postoperative complications, and mortality rates were 11%, 36%, and 0%, respectively. The mean length of stay was 6.5 ± 5.5 days. The median overall survival was 53 ± 4.9 months. CONCLUSIONS: Familiarity with radiologic characteristics of PRN is important for appropriate management. Counter to STS, other PRN are mostly benign and have an indolent course. Radical surgery is not required, as complete TR confers good prognosis. Expectant management is reserved for small, asymptomatic, benign neoplasms.


Assuntos
Neoplasias Retroperitoneais/diagnóstico , Idoso , Feminino , Ganglioneuroma/diagnóstico , Ganglioneuroma/diagnóstico por imagem , Ganglioneuroma/patologia , Ganglioneuroma/cirurgia , Humanos , Lipoma/diagnóstico , Lipoma/diagnóstico por imagem , Lipoma/patologia , Lipoma/cirurgia , Masculino , Pessoa de Meia-Idade , Neurilemoma/diagnóstico , Neurilemoma/diagnóstico por imagem , Neurilemoma/patologia , Neurilemoma/cirurgia , Neurofibroma/diagnóstico , Neurofibroma/diagnóstico por imagem , Neurofibroma/patologia , Neurofibroma/cirurgia , Paraganglioma/diagnóstico , Paraganglioma/diagnóstico por imagem , Paraganglioma/patologia , Paraganglioma/cirurgia , Neoplasias Retroperitoneais/diagnóstico por imagem , Neoplasias Retroperitoneais/patologia , Neoplasias Retroperitoneais/cirurgia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
9.
World Neurosurg ; 133: e97-e104, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31505279

RESUMO

BACKGROUND: Intraspinal tumors are 10 to 15 times less common than brain tumors. The midline approach with extensive laminectomies represents the current gold-standard for resection, causing instability, muscle damage, and kyphosis among other well-known complications. Minimally invasive series reported their results using retractor-based systems. We analyzed a patient series treated with a non-expansile tubular approach, describing the technique, grade of resection, and clinical outcomes. METHODS: A series of consecutive cases operated between 2016 and October 2018 were analyzed retrospectively. The database included age, sex, clinical presentation, intraspinal location (intra/extradural), number of laminotomies, grade of resection, surgical time, bleeding, and follow-up. The initial and follow-up clinical condition was analyzed using the Frankel scale. RESULTS: A total of 13 patients underwent surgery: 3 intraspinal/extradural (23%), 8 intradural/extramedullary (61.5%), and 2 intramedullary tumors (15.3%); these were classified as 5 meningiomas (38.4%), 4 neurofibromas (30.7%), 2 schwannomas (15.3%), 1 hemangioblastoma (7.6%), and 1 astrocytoma (7.6%). Eleven (84.61%) patients had complete motor improvement, 1 patient had partial improvement, and 1 patient had no improvement (7.6% each). An 18-mm working channel tube was used for extramedullary lesions and 20-mm tubes for intramedullary injuries. Total tumor resection was achieved in 11 patients (84.6%) and subtotal in 2 patients (15.38%) corresponding to intramedullary tumors. CONCLUSIONS: Although this study consisted of a small series, we have shown the possibility of resecting intraspinal tumors (some intradural-intramedullary) with non-expansile tubes in a safe and effective way with no complications. Most of the patients had complete neurological improvement at the end of follow-up.


Assuntos
Descompressão Cirúrgica/métodos , Fixadores Internos , Microcirurgia/métodos , Neoplasias da Medula Espinal/cirurgia , Neoplasias da Coluna Vertebral/cirurgia , Adulto , Idoso , Descompressão Cirúrgica/instrumentação , Desenho de Equipamento , Feminino , Seguimentos , Humanos , Imagem por Ressonância Magnética , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/cirurgia , Meningioma/diagnóstico por imagem , Meningioma/cirurgia , Microcirurgia/instrumentação , Pessoa de Meia-Idade , Neurilemoma/diagnóstico por imagem , Neurilemoma/cirurgia , Neurofibroma/diagnóstico por imagem , Neurofibroma/cirurgia , Estudos Retrospectivos , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Adulto Jovem
10.
Pan Afr Med J ; 33: 242, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31692794

RESUMO

The sciatic nerve is the terminal branch of the sacral plexus. Sciatalgia is a nerve root pain. In most cases, sciatica originates from degenerative disc disease. Tumor involving the sciatic nerve is extremely rare. We here report the case of a 33-year old patient with nerve tumor detected on MRI performed for drug-resistant sciatica. Tumor involving the sciatic nerve is rare and diagnosis is difficult. MRI data are crucial for establishing an effective surgical approach.


Assuntos
Imagem por Ressonância Magnética/métodos , Neurilemoma/diagnóstico por imagem , Neurofibroma/diagnóstico por imagem , Nervo Isquiático/diagnóstico por imagem , Adulto , Diagnóstico Diferencial , Humanos , Masculino , Nervo Isquiático/patologia , Ciática/diagnóstico
11.
Clin Nucl Med ; 44(12): 991-992, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31689283

RESUMO

A 48-year-old woman with intermittent lower back pain for 9 months and known retroperitoneal neurofibroma underwent F-NaF PET/CT scan to assess possible bony lesions causing the pain. Incidentally, the images showed elevated NaF activity in the retroperitoneal neurofibroma. In addition, uterine leiomyoma with heterogeneous calcifications revealed increased NaF activity.


Assuntos
Calcinose/complicações , Radioisótopos de Flúor , Leiomioma/complicações , Neurofibroma/metabolismo , Neoplasias Retroperitoneais/metabolismo , Fluoreto de Sódio/metabolismo , Transporte Biológico , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibroma/complicações , Neurofibroma/diagnóstico por imagem , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Neoplasias Retroperitoneais/complicações , Neoplasias Retroperitoneais/diagnóstico por imagem
12.
BMC Oral Health ; 19(1): 197, 2019 08 29.
Artigo em Inglês | MEDLINE | ID: mdl-31464607

RESUMO

BACKGROUND: Neurofibromas (NF) are benign tumors of the peripheral nerves that are composed of Schwann cells, perineural-like cells and fibroblasts. The differential diagnosis for a solitary intraneural variant of neurofibroma arising in the floor of the mouth is broad and includes a submandibular gland neoplasm and adenopathy, among others. The intraoral approach is the best choice for a medium-sized lesion. CASE PRESENTATION: We report a rare case of a solitary neurofibroma of the floor of the mouth in a 31-year-old male. The patient consulted the dental emergency department for acute pain of the left mandible. Systematic clinical examination revealed the presence of a mass in the left mouth floor. The panoramic x-ray was not conclusive and the magnetic resonance imaging (MRI) revealed a well-defined soft tissue lesion with homogenous isosignal intensity on the T1-weighted image, high intensity signal on the T2-weighted image and heterogeneous enhancement following contrast-enhancement on the T1-weighted Fast Sat image. The surgical excision of the soft-tissue neoplasm was accomplished by an intraoral approach. The specimen was sent for histopathologic analysis and Immunohistochemical studies which confirmed the diagnosis of a myxoid predominant intraneural solitary neurofibroma. CONCLUSION: The diagnosis of neurofibroma was confirmed by histopathological evaluation and immunohistochemical studies which also excluded other entities in the histopathologic differential diagnosis including schwannoma and a malignant peripheral nerve sheath tumor among other. Localized (solitary) neurofibromas most often occur as sporadic lesions, however; diagnosis of a solitary neurofibroma prompts clinical evaluation to exclude the remote possibility of neurofibromatosis. The purpose of this case report is to raise awareness of the uncommon presentation of neurofibroma and to document the successful management of such a lesion using an intraoral approach.


Assuntos
Nervo Lingual , Neurofibroma , Adulto , Diagnóstico Diferencial , Humanos , Nervo Lingual/diagnóstico por imagem , Nervo Lingual/cirurgia , Imagem por Ressonância Magnética , Masculino , Neurofibroma/diagnóstico por imagem , Neurofibroma/cirurgia , Exame Físico
13.
World Neurosurg ; 130: 1-6, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31254713

RESUMO

BACKGROUND: Cases of multiple intracranial tumors are common; however, cases of multiple intraspinal tumors are rare. Except for cases of neurofibromatosis, it is very rare for tumors of different pathological types to exist concurrently at the same spinal level. Only 9 cases have been reported to date, with meningioma found with schwannoma in 7 cases and with neurofibroma in 2 cases. CASE DESCRIPTION: We have reported another rare case in which neurofibroma and meningioma were identified within a single dumbbell-shaped tumor at the same cervical level without neurofibromatosis. The preoperative magnetic resonance imaging findings indicated a single extra- and intradural extramedullary dumbbell-shaped neurogenic tumor on the left ventral side of the cervical spine. Intraoperatively, we found that the mass consisted of 2 pathologically different tumors. The results of surgical resection were mostly satisfactory. CONCLUSIONS: To the best of our knowledge, the present case is the first reported case of intradural neurofibroma (not meningioma) and extradural meningioma growing mixed together at the same spinal level without neurofibromatosis. The precise mechanism underlying the formation of the tumor is unknown, and multidirectional differentiation of a common progenitor cell is one possibility. Intra- and extradural exploration and component biopsies are useful for treatment planning, especially when the magnetic resonance imaging is not sufficiently sensitive for the diagnosis of coexisting tumor types.


Assuntos
Vértebras Cervicais/diagnóstico por imagem , Neoplasias Meníngeas/diagnóstico por imagem , Meningioma/diagnóstico por imagem , Neurofibroma/diagnóstico por imagem , Neurofibromatoses , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Feminino , Humanos , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/cirurgia , Meningioma/complicações , Meningioma/cirurgia , Pessoa de Meia-Idade , Neurofibroma/complicações , Neurofibroma/cirurgia , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/cirurgia
14.
Radiographics ; 39(2): 468-490, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30844353

RESUMO

While intradural extramedullary spinal disease varies widely, identification of tumors in this location and their radiologic manifestations greatly facilitates narrowing of the diagnostic considerations. Meningioma and schwannoma are the two most common intradural extramedullary tumors, and both are associated with neurofibromatosis. Meningiomas are most common in the thoracic spine and show a strong female predilection and a clinical manifestation related to compression of the spinal cord or nerve roots. Schwannomas typically are associated with radicular pain and other sensory symptoms. Melanotic schwannoma frequently shows T1 hyperintensity at MRI related to the presence of paramagnetic free radicals in melanin. Neurofibroma, known for its T2 hyperintensity, frequently involves the cervical spine, where it may make surgical resection challenging. Less commonly, malignant peripheral nerve sheath tumor commonly mimics the imaging appearance of a schwannoma but has decidedly more aggressive biologic behavior. In the cauda equina, myxopapillary ependymoma and paraganglioma are believed to arise from the filum terminale and have characteristic imaging manifestations based on their underlying pathologic features. Recent identification of a common genetic marker has led to reclassification of what had previously been regarded as separate tumors and are now known as solitary fibrous tumor/hemangiopericytoma. In the proper clinical setting, the presence of nodular intradural enhancement strongly suggests the presence of leptomeningeal metastatic disease, even when results of cerebrospinal fluid analysis are negative. This article highlights the characteristic neuroimaging manifestations of these neoplasms, with emphasis on radiologic-pathologic correlation. See Illumination by Frazier .


Assuntos
Neuroimagem/métodos , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Meios de Contraste , Ependimoma/diagnóstico por imagem , Ependimoma/patologia , Feminino , Gadolínio , Hemangiopericitoma/diagnóstico por imagem , Hemangiopericitoma/patologia , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/patologia , Neoplasias Meníngeas/secundário , Meningioma/diagnóstico por imagem , Meningioma/patologia , Neurilemoma/diagnóstico por imagem , Neurilemoma/patologia , Neurofibroma/diagnóstico por imagem , Neurofibroma/patologia , Paraganglioma/diagnóstico por imagem , Paraganglioma/patologia , Neoplasias da Coluna Vertebral/patologia
15.
J Neurosurg Spine ; 30(1): 126-132, 2018 10 19.
Artigo em Inglês | MEDLINE | ID: mdl-30485203

RESUMO

OBJECTIVEC2 nerve root neurofibromas have been reported frequently in patients with neurofibromatosis type 1 (NF1), although their genetic and imaging characteristics are unexplored. The aim of this study was to characterize genetic and spinal imaging findings in a large cohort of NF1 patients with C2 neurofibromas.METHODSThe authors performed a review of national NF1 referrals between 2009 and 2016. Inclusion criteria were at least 1 C2 root neurofibroma and cervical-spine or whole-spine MRI scans available for analysis. Blinded imaging review was performed by a neuroradiologist with an interest in NF1.RESULTSFifty-four patients with 106 C2 neurofibromas were included. The median age was 32.5 years (range 15-61 years), and there were slightly more male patients (33 vs 21 female patients). Splice-site (30%) and missense (20%) variants were frequent. Spinal neurofibromas were distributed in all spine regions (65%) or in the cervical spine alone (22%). Most (93%) C2 neurofibromas were visible on MRI scans of the head. Intradural invasion and cord compression in the cervical spine included the C2 level in 95% and 80% of patients, respectively. Compared with all other cervical spine neurofibromas in these patients, C2 neurofibromas had higher rates of intraspinal extension (75% vs 32%; OR 6.20, 95% CI 3.85-9.97; p < 0.001), intradural invasion (53% vs 26%; OR 3.20, 95% CI 2.08-4.92; p < 0.001), and cord compression (25% vs 13%; OR 2.26, 95% CI 1.35-3.79; p = 0.002). However, C2 neurofibromas had lower rates of extraforaminal growth beyond the transverse process (12% vs 62%; OR 0.09, 95% CI 0.05-0.16; p < 0.001).CONCLUSIONSC2 neurofibromas are associated with an aggressive intraspinal phenotype, limited growth outside the spinal canal, and an uncommon genetic profile. These observations require future study.


Assuntos
Neurofibroma/diagnóstico por imagem , Neurofibromatose 1/diagnóstico por imagem , Compressão da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/diagnóstico por imagem , Adolescente , Adulto , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Neurofibroma/complicações , Neurofibromatose 1/complicações , Fenótipo , Compressão da Medula Espinal/complicações , Neoplasias da Medula Espinal/complicações , Coluna Vertebral/patologia , Adulto Jovem
16.
BMJ Case Rep ; 20182018 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-30297491

RESUMO

An occurrence of vallecular neurofibroma with airway obstruction is extremely rare and to the best of our knowledge, no case report has been documented in the literature to date. Although microlaryngeal surgery with cold knife excision is the standard surgical procedure offered to patients of vallecular lesions, it can be successfully managed with the help of endoscopic coblation as later can provide a bloodless surgical field preventing the unmet need for the tracheostomy and reducing the postoperative morbidities.


Assuntos
Neoplasias Laríngeas/diagnóstico , Neurofibroma/diagnóstico , Adulto , Obstrução das Vias Respiratórias/etiologia , Transtornos de Deglutição/etiologia , Diagnóstico Diferencial , Endoscopia , Feminino , Humanos , Neoplasias Laríngeas/complicações , Neoplasias Laríngeas/diagnóstico por imagem , Neoplasias Laríngeas/cirurgia , Laringoscopia , Neurofibroma/complicações , Neurofibroma/diagnóstico por imagem , Neurofibroma/cirurgia , Tomografia Computadorizada por Raios X
18.
BMJ Case Rep ; 20182018 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-29764827

RESUMO

A 13-year-old boy with neurofibromatosis type 1 presented to the emergency department twice in a fortnight with moderate intermittent abdominal pain, radiating to the back and associated with nausea and vomiting. He examined as a well child with a soft abdomen and minimal tenderness. A history of constipation was identified but he failed to respond to a trial of laxatives. Subsequent ultrasound abdomen demonstrated a large mass surrounding the porta hepatis. MRI further characterised a focal, non-aggressive lesion extending from his liver, encapsulating his pancreas, portal vessels and laterally displacing his spleen and left kidney. Biopsy performed at a specialist cancer treatment hospital of our reference later confirmed this to be a benign neurofibroma of a size not previously reported in the literature. He will be managed conservatively with surveillance imaging and the potential for chemotherapy should the lesion continue to grow.


Assuntos
Neoplasias Abdominais/patologia , Dor Abdominal/diagnóstico por imagem , Achados Incidentais , Neurofibroma/patologia , Neurofibromatose 1/complicações , Neoplasias Abdominais/diagnóstico por imagem , Neoplasias Abdominais/etiologia , Neoplasias Abdominais/terapia , Adolescente , Biópsia , Tratamento Conservador , Humanos , Imagem por Ressonância Magnética , Masculino , Neurofibroma/diagnóstico por imagem , Neurofibroma/etiologia , Neurofibroma/terapia , Ultrassonografia
19.
Skeletal Radiol ; 47(11): 1553-1558, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29632963

RESUMO

Pacinian corpuscles, the main touch receptors to pressure and vibration, are ubiquitous in the deep dermis and hypodermis of the fingers and palms. Nevertheless, their existence is largely unknown to most radiologists. We frequently noted hyperintense nodules in the palms of patients on water-sensitive MRI sequences, but were unable to explain their etiology. We recently encountered two patients who had Pacinian corpuscles identified at surgical exploration and pathological analysis. Pre-operative MRI examinations in these patients showed T2 hyperintense subcutaneous palmar nodules corresponding to these corpuscles in a pattern identical to those seen incidentally in other patients. Descriptions from the dermatopathological and orthopedic literature closely correspond to our MRI observations. Based on these data, we hypothesize that the MRI finding that we previously noted represents normal Pacinian corpuscles.


Assuntos
Mãos/diagnóstico por imagem , Achados Incidentais , Corpúsculos de Pacini/diagnóstico por imagem , Idoso , Feminino , Dedos/diagnóstico por imagem , Mãos/inervação , Humanos , Imagem por Ressonância Magnética , Masculino , Neurofibroma/diagnóstico por imagem , Estudos Retrospectivos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA