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1.
World Neurosurg ; 135: 171-172, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31870821

RESUMO

Benign peripheral nerve sheath tumors are well known to neurosurgeons and a relatively commonly seen pathology. Intraneural ganglion cysts, once thought to be rare and poorly understood, are increasingly recognized in clinical practice and better understood based on the advent of high-resolution imaging. There are few reports of different nerve lesions in the same anatomic location appearing concurrently. Herein we present a patient with 2 distinct pathologies explaining 2 distinct symptom complexes-sensory changes in the superficial peroneal distribution (from a schwannoma of the superficial peroneal nerve) and mild motor weakness in the tibialis anterior (from an intraneural ganglion cyst arising from the superior tibiofibular joint affecting this motor branch). Recognition of the 2 pathologies allowed targeted surgical approaches, which led to resolution of the symptoms.


Assuntos
Cistos Glanglionares/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neoplasias do Sistema Nervoso Periférico/diagnóstico por imagem , Neuropatias Fibulares/diagnóstico por imagem , Idoso , Feminino , Cistos Glanglionares/complicações , Cistos Glanglionares/cirurgia , Humanos , Imagem por Ressonância Magnética , Neurilemoma/complicações , Neurilemoma/cirurgia , Neoplasias do Sistema Nervoso Periférico/complicações , Neoplasias do Sistema Nervoso Periférico/cirurgia , Nervo Fibular/diagnóstico por imagem , Nervo Fibular/cirurgia , Neuropatias Fibulares/complicações , Neuropatias Fibulares/cirurgia
2.
World Neurosurg ; 135: 267-272, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31883482

RESUMO

BACKGROUND: Sacral schwannomas are rare tumors arising from nerve sheath Schwann cells. They are classified into 3 types: first type schwannoma arising from the sacrum, second type schwannoma eroding the sacrum, and third type schwannoma extending extensively, involving anterior, posterior, and retroperitoneal space. Among these type 2 sacral tumors, according to Klimo's classification, an eroding sacrum extending all over posteriorly, anteriorly, and laterally is still rarer. Only 38 cases have been reported in literature reviews. Only 6 cases of giant tumors of >10 cm in any 1 dimension have been reported. CASE DESCRIPTION: We present such a giant sacral schwannoma, with invasiveness eroding the sacrum; compressing the ureters, aortic bifurcation, bladder, and bowel; and presenting as lower abdominal pain, hydronephrosis, dysuria, and constipation. This is the first case reported in the literature that has described a large retroperitoneal tumor compressing retroperitoneal structures-aortic bifurcation vascular compression and ureter compression causing hydronephrosis. CONCLUSIONS: Though complete resection, which caused various severe postoperative complications in the reported cases, is the best option, a less morbid procedure would be appropriate; hence we underwent subtotal excision of the tumor, with complete recovery of our patient's symptoms without neurologic deficit.


Assuntos
Doenças da Aorta/etiologia , Hidronefrose/etiologia , Neurilemoma/complicações , Neoplasias da Coluna Vertebral/complicações , Aorta , Colo , Constipação Intestinal/etiologia , Feminino , Humanos , Hidronefrose/diagnóstico por imagem , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Invasividade Neoplásica , Neurilemoma/diagnóstico por imagem , Neurilemoma/patologia , Neurilemoma/cirurgia , Sacro/diagnóstico por imagem , Sacro/patologia , Sacro/cirurgia , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/patologia , Neoplasias da Coluna Vertebral/cirurgia , Raízes Nervosas Espinhais , Carga Tumoral , Ureter
3.
Pain Res Manag ; 2019: 5392945, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31662812

RESUMO

Background: Recurrent painful ophthalmoplegic neuropathy (RPON), previously known as ophthalmoplegic migraine (OM), is an uncommon disorder with repeated episodes of ocular cranial nerve neuropathy associated with ipsilateral headache. The age of presentation is most often during childhood or adolescence. MRI has a central role in the assessment of the RPON, especially to distinguish orbital, parasellar, or posterior fossa lesions that mimic symptoms of RPON. Actually, oculomotor nerve tumors may be masquerade as RPON so that MRI follow-ups are required to detect the possibility of tumor etiology. Case presentation: We report a 16-year-old boy with a 7-year follow-up and multiple brain MRI data, previously diagnosed as OM. The last brain MRI, performed during an acute phase of oculomotor paresis with ipsilateral headache, showed a nodular lesion described as schwannoma of III cranial nerve. Then, we reviewed the literature on OM and RPON in pediatric age with a focus on brain MRI findings. Conclusions: This review highlights the important role of serial brain MRIs in the long-term follow-up of RPON, especially in the cases with childhood onset, in order to not delay the diagnosis of a possible oculomotor nerve schwannoma.


Assuntos
Neoplasias dos Nervos Cranianos/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Doenças do Nervo Oculomotor/diagnóstico por imagem , Enxaqueca Oftalmoplégica/etiologia , Adolescente , Neoplasias dos Nervos Cranianos/complicações , Seguimentos , Humanos , Imagem por Ressonância Magnética , Masculino , Neurilemoma/complicações , Doenças do Nervo Oculomotor/complicações
5.
BMJ Case Rep ; 12(8)2019 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-31413058

RESUMO

A 69-year-old woman presented with an 8-month history of diplopia and examination findings consistent with a right third-nerve palsy. Head MRI identified the presence of a 5.8 mm, nodular, isointense lesion in the suprasellar cistern, which demonstrated enhancement with gadolinium contrast. The lesion did not show any evidence of growth over a 3-month follow-up period. These MRI findings, alongside the clinical features, suggest oculomotor nerve schwannoma. Oculomotor schwannomas are a rare cause of third-nerve palsy. The presenting features and management options for oculomotor schwannomas are discussed to provide a framework for the diagnosis and management of these patients.


Assuntos
Neoplasias dos Nervos Cranianos/diagnóstico , Neurilemoma/diagnóstico , Doenças do Nervo Oculomotor/etiologia , Nervo Oculomotor , Idoso , Neoplasias dos Nervos Cranianos/complicações , Neoplasias dos Nervos Cranianos/diagnóstico por imagem , Diagnóstico Diferencial , Diplopia/etiologia , Feminino , Humanos , Angiografia por Ressonância Magnética , Neurilemoma/complicações , Neurilemoma/diagnóstico por imagem
6.
S Afr J Surg ; 57(3): 58, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31392870

RESUMO

BACKGROUND: Intradural extramedullary (IDEM) spinal masses are common lesions with varying histological diagnoses often associated with significant neurological deficits. This study aimed to describe the epidemiology, management and perioperative outcome of IDEM tumours seen at the teaching hospitals of the University of the Witwatersrand, Johannesburg, between 2014 and 2017. RESULTS: 92 patients were included in the study. The ages ranged from 21 to 87 years, sex ratio was M:F 1:1.4, and duration of symptoms prior to diagnosis ranged between 3 days to 18 months. Local and radicular type pain as well as motor weakness were the commonest symptoms. 67% had severe neurological deficit McCormick Grade III and IV. Schwannoma (26) Neurofibromas (21) and Meningiomas (16) and were the most frequent tumour types. Meningiomas predominantly occurred at the cranio-cervical and thoracic levels. Nerve sheath tumours were mostly found at the cervical and lumbar levels while filum terminale ependymomas occurred at the thoracolumbar area. Laminectomy was the commonest surgical approach employed, and the extent of resection varied, with total excision in half the cases. Neurological function was regained in 3 patients, deteriorated in two and was unchanged in the remainder. CONCLUSION: IDEM tumours are an important subset of spinal cord compressive lesions Presentation with severe neurological deficit is common and though resection is feasible neurological deficit remains in the vast majority. Earlier detection should improve the results of surgery.


Assuntos
Meningioma/cirurgia , Neurilemoma/cirurgia , Neurofibroma/cirurgia , Neoplasias da Medula Espinal/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Dor nas Costas/etiologia , Feminino , Hospitais de Ensino , Humanos , Laminectomia , Masculino , Meningioma/complicações , Meningioma/epidemiologia , Pessoa de Meia-Idade , Debilidade Muscular/etiologia , Neurilemoma/complicações , Neurilemoma/epidemiologia , Neurofibroma/complicações , Neurofibroma/epidemiologia , Radiculopatia/etiologia , África do Sul/epidemiologia , Compressão da Medula Espinal/etiologia , Neoplasias da Medula Espinal/complicações , Neoplasias da Medula Espinal/epidemiologia , Adulto Jovem
7.
J Clin Neurosci ; 69: 272-276, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31439491

RESUMO

Mobile or migratory intradural extramedullary schwannoma have been reported many times in the lumbar levels, however only twice in cervical spine and six times in thoracic spine. Double migration was reported only once. The exact cause of the migration of a schwannoma arising from the nerve sheath of a spinal nerve root is unclear and especially mysterious in cervical and thoracic spine. We report a 49 year old male who presented with multiple sclerosis confirmed on brain MRI and CSF showing oligoclonal bands, with concomitant spinal myelopathy from a thoracic intradural extramedullary lesion. Serial MRIs showed rostral migration of lesion initially from T10 level to T6 and then caudally to T9 level on day of surgery. Intra operatively it was mobile with respirations and disconnected from any neural or vascular attachments. Histopathology confirmed a benign schwannoma with areas of necrosis. This is the rare occurrence of double migration of thoracic intradural schwannoma with possibility of tumor disconnection due to high dose steroid therapy for multiple sclerosis.


Assuntos
Esclerose Múltipla/complicações , Neurilemoma/complicações , Neurilemoma/patologia , Neoplasias da Medula Espinal/complicações , Neoplasias da Medula Espinal/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Vértebras Torácicas
8.
BMJ Case Rep ; 12(8)2019 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-31439570

RESUMO

A constellation of newly diagnosed benign tumours and glioblastoma is an uncommon occurrence in a single individual. We present a case of a patient with a history of skin lipomas who presented with seizures and was found to have a left frontotemporal multifocal enhancing mass on MRI. Work-up for metastatic disease revealed a benign lung carcinoid tumour, a cervical schwannoma, adrenal masses, a growth hormone-secreting pituitary adenoma, and lastly a glioblastoma following brain biopsy.


Assuntos
Neoplasias Encefálicas/diagnóstico , Tumor Carcinoide/diagnóstico , Glioblastoma/diagnóstico , Adenoma Hipofisário Secretor de Hormônio do Crescimento/diagnóstico , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias Pulmonares/diagnóstico , Neoplasias Primárias Múltiplas/diagnóstico , Neurilemoma/diagnóstico , Idoso , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico por imagem , Tumor Carcinoide/complicações , Tumor Carcinoide/diagnóstico por imagem , Vértebras Cervicais , Evolução Fatal , Lobo Frontal , Glioblastoma/complicações , Glioblastoma/diagnóstico por imagem , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Adenoma Hipofisário Secretor de Hormônio do Crescimento/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/complicações , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Humanos , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/diagnóstico por imagem , Imagem por Ressonância Magnética , Masculino , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Neurilemoma/complicações , Neurilemoma/diagnóstico por imagem , Convulsões/etiologia , Tomografia Computadorizada por Raios X
9.
World Neurosurg ; 131: 53-57, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31376556

RESUMO

BACKGROUND: Intracranial schwannomas are rarely confined to the skull. We here report a large schwannoma localized in the petrous apex that presented with intratumoral hemorrhage. CASE DESCRIPTION: A 35-year-old woman with mild hearing disturbance and ear fullness underwent computed tomography scan and magnetic resonance imaging, which demonstrated a tumor accompanied with intratumoral hematoma in the right petrous apex. Bone marrow was totally destroyed, but the bone cortex was relatively preserved. Pathologic specimen showed that the tumor was composed of proliferation of elongated neoplastic cells and positive for S-100 protein. It showed a nuclear palisading pattern, compatible with schwannoma. The lack of any cranial nerve signs and relative preservation of canals through which cranial nerves pass suggested the neurilemma cells surrounded vessels or mismigrated fetal neurilemma cells in the petrous apex as origin of the tumor. Benign nature of the tumor and total disappearance of the symptoms, supposedly due to the spontaneous absorption of the hematoma, made the patient choose a wait-and-watch approach. Magnetic resonance imaging studied 7 years after the diagnosis showed significant decrease of the tumor volume and disappearance of the hematoma. CONCLUSIONS: Although it is a large intraosseous schwannoma in the petrous apex, it has a benign nature, its size is reduced due to the hematoma absorption, and the patient is asymptomatic. We observed the patients for 7 years after the diagnosis.


Assuntos
Hemorragias Intracranianas/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Osso Petroso/diagnóstico por imagem , Adulto , Biópsia , Feminino , Perda Auditiva Condutiva/etiologia , Humanos , Hemorragias Intracranianas/complicações , Imagem por Ressonância Magnética , Neurilemoma/irrigação sanguínea , Neurilemoma/complicações , Neurilemoma/patologia , Carga Tumoral
10.
Cir Cir ; 87(4): 377-384, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31264987

RESUMO

Objective: To describe the clinical presentation of the facial nerve schwannomas according to the anatomical site of origin. Method: A retrospective study in which the clinical presentation, diagnostic protocol and treatment of facial nerve tumors in adults was evaluated. Results: We found 6 cases, 4 cases of tympanic-mastoid location at the spectrum of its possible clinical presentation: from symptomatic cases with facial paralysis, to an asymptomatic case in the tympanic portion found as intraoperative finding; and also found two cases located at the parotid gland, one with complete facial paralysis and one without facial palsy. Conclusions: For the diagnosis of intratemporal and parotid schwannomas of the facial nerve, a high clinical suspicion is required given its heterogeneous presentation; its clinical course depends on the segment of origin and expansion: more frequently asymptomatic at the tympanic horizontal portion and symptomatic at the mastoid vertical portion. These tumors must be assessed with imaging studies, incisional biopsy is not recommended. The treatment is surgical resection in symptomatic patients with facial paralysis greater than grade III of House-Brackmann, with immediate reconstruction of the nerve.


Assuntos
Neoplasias dos Nervos Cranianos/complicações , Doenças do Nervo Facial/complicações , Processo Mastoide/inervação , Neurilemoma/complicações , Neoplasias Parotídeas/complicações , Membrana Timpânica/inervação , Adulto , Neoplasias dos Nervos Cranianos/patologia , Neoplasias dos Nervos Cranianos/cirurgia , Doenças do Nervo Facial/patologia , Doenças do Nervo Facial/cirurgia , Paralisia Facial/etiologia , Paralisia Facial/cirurgia , Feminino , Perda Auditiva Condutiva/etiologia , Humanos , Masculino , Neurilemoma/patologia , Neurilemoma/cirurgia , Glândula Parótida/inervação , Neoplasias Parotídeas/patologia , Neoplasias Parotídeas/cirurgia , Estudos Retrospectivos , Zumbido/etiologia , Adulto Jovem
11.
J Int Adv Otol ; 15(2): 330-332, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31287431

RESUMO

Facial nerve schwannomas are rare benign neoplasms. We report a case of a 60-year-old woman who initially presented with vestibular complaints. Magnetic resonance imaging (MRI) revealed a facial nerve schwannoma centered on the right geniculate ganglion extending in the labyrinthine segment. The patient consulted again after 2 months because she developed a sudden and severe right-sided sensorineural hearing loss. MRI showed no progression or pathological enhancement in the membranous labyrinth. A cone beam computed tomography (CT) of the temporal bone was performed and revealed a large erosion at the region of the geniculate ganglion in open communication with the middle turn of the cochlea. This case report demonstrates the importance of CT in facial nerve schwannomas for evaluating the impact on the surrounding structures.


Assuntos
Doenças Cocleares/etiologia , Neoplasias dos Nervos Cranianos/complicações , Doenças do Nervo Facial/complicações , Neurilemoma/complicações , Doenças Cocleares/diagnóstico por imagem , Tomografia Computadorizada de Feixe Cônico , Neoplasias dos Nervos Cranianos/diagnóstico por imagem , Doenças do Nervo Facial/diagnóstico por imagem , Feminino , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/etiologia , Humanos , Pessoa de Meia-Idade , Neurilemoma/diagnóstico por imagem , Osso Temporal/diagnóstico por imagem
12.
J Clin Neurophysiol ; 36(6): 468-470, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31274708

RESUMO

A 55-year-old woman presented with an 18-month history of intermittent left-hand paresthesias affecting her first, second, and third digits. A small, immobile, nontender midline mass on the volar aspect of the left wrist was also present. Evaluation included normal routine nerve conduction studies and needle electromyography. An ultrasound was performed in the electromyography laboratory, verifying median nerve involvement of the mass within the proximal carpal tunnel. This finding guided the electromyographer to perform the unconventional technique of sensory nerve short segmental stimulation across the carpal tunnel, which confirmed focal slowing across the lesion, achieving electrodiagnostic confirmation of median nerve impairment. This case of atypical carpal tunnel syndrome due to a median nerve schwannoma demonstrates both the utility and specificity of short segmental sensory stimulation in some cases of median neuropathy at the wrist and the value of sonography in the electromyography laboratory.


Assuntos
Síndrome do Túnel Carpal/diagnóstico , Eletromiografia/métodos , Nervo Mediano/patologia , Neurilemoma/diagnóstico , Síndrome do Túnel Carpal/etiologia , Feminino , Humanos , Pessoa de Meia-Idade , Neurilemoma/complicações , Ultrassonografia/métodos , Punho/inervação , Punho/patologia
13.
Medicine (Baltimore) ; 98(30): e16582, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31348294

RESUMO

RATIONALE: The presence of a mediastinal neurilemmoma accompanied by intrapulmonary sequestration is a rare occurrence. The clinical symptoms of a neurilemmoma depend on the site of the tumor. Diagnosis of pulmonary sequestration mainly depends on the presence of aberrant feeding arteries. PATIENT CONCERNS: A 78-year-old woman was admitted to our hospital with a mediastinal space-occupying lesion of 50 years. Computed tomography and magnetic resonance imaging showed 2 roundish low-density shadows in the left posterior mediastinum. DIAGNOSIS: The pathological findings of the upper cystic mass support the diagnosis of neurilemmoma. A branch of aorta was found supplying blood to the lower mass; it was considered a pulmonary sequestration. INTERVENTIONS: Left-sided thoracotomy was planned to remove the chest space-occupying lesions. Two masses were completely removed. Severe adhesion between the left lower lobe and the diaphragm was successfully separated, the aberrant feeding vessel was properly managed, and the lower lobe was resected completely. OUTCOMES: The patient experienced remission of symptoms, had no significant postoperative complications, and was discharged from the hospital. LESSONS: Special attention should be paid to neurological involvement of the neurilemmoma and the fragile feeding arteries of the intrapulmonary sequestration. Early diagnosis and treatment are important in such cases.


Assuntos
Sequestro Broncopulmonar/complicações , Neoplasias do Mediastino/complicações , Neurilemoma/complicações , Idoso , Sequestro Broncopulmonar/diagnóstico , Feminino , Humanos , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/patologia , Neurilemoma/diagnóstico , Neurilemoma/patologia
14.
BMJ Case Rep ; 12(7)2019 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-31302617

RESUMO

We present an unusual case of spinal neurinoma with intralesional and subarachnoid bleeding with acute cauda equina syndrome. A 38-year-old man was admitted to our department after a minor thoracic spinal trauma with right lower limb plegia and urinary retention. MRI showed a T11 intradural tumour with intralesional and subarachnoid haemorrhage. The patient was operated of spinal cord decompression and complete tumour resection. The histological examination documented a schwannoma with large haemorrhagic intratumoural areas. A full neurological recovery was documented at 6-month follow-up.


Assuntos
Síndrome da Cauda Equina/etiologia , Neurilemoma/complicações , Neoplasias da Coluna Vertebral/complicações , Hemorragia Subaracnóidea/etiologia , Adulto , Descompressão Cirúrgica , Humanos , Imagem por Ressonância Magnética , Masculino , Neurilemoma/diagnóstico por imagem , Neurilemoma/cirurgia , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Hemorragia Subaracnóidea/cirurgia
15.
World Neurosurg ; 129: 210-215, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31203077

RESUMO

BACKGROUND: Sacral schwannomas are very rare nerve sheath tumors. Patients usually present with a variety of nonspecific symptoms, which often lead to a delay in diagnosis. Although most schwannomas are benign, they present surgical challenges owing to their proximity to neurologic and other anatomic structures. CASE DESCRIPTION: This 58-year-old female presented with a 2-month old history of left-sided perineal and radicular pain secondary to a right S2 sacral nerve root schwannoma. The sacral mass demonstrated homogenous enhancement with cystic changes in a T2-weighted magnetic resonance imaging sequence. The patient underwent S1-S3 laminectomy and tumor excision through a posterior surgical approach. Intraoperative monitoring was used to distinguish nonfunctional tissue during tumor resection. The patient had an unremarkable postoperative course. CONCLUSIONS: Sacral schwannomas can present with a variety of nonspecific symptoms. They pose unique challenges given their location, size, and involvement of surrounding structures. Complete surgical resection is the main goal of sacral schwannoma treatment. A combined anterior-posterior surgical approach and a multidisciplinary surgical team are associated with improved outcomes.


Assuntos
Neurilemoma/patologia , Neoplasias do Sistema Nervoso Periférico/patologia , Raízes Nervosas Espinhais/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Neuralgia/etiologia , Neurilemoma/complicações , Neurilemoma/cirurgia , Neoplasias do Sistema Nervoso Periférico/complicações , Neoplasias do Sistema Nervoso Periférico/cirurgia , Região Sacrococcígea , Raízes Nervosas Espinhais/cirurgia
16.
Fam Cancer ; 18(4): 445-449, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31240424

RESUMO

A 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner's syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.9, (B) a large heterogeneous enhancing pelvic mass (C) mesenteric adenopathy standardised uptake value max = 10.3 and (D) 6 cm right lung apex mass standardised uptake value max = 4.3. Computerised tomography-guided biopsy of lesion A was reported as neurofibroma with occasional atypia, lesion B a benign uterine leiomyoma and lesion C follicular lymphoma world health organisation Grade 2. Although she had been given the diagnosis of Neurofibromatosis Type-1 (NF1) 25-years previously following removal of an intradural extramedullary schwannoma she had no cutaneous stigmata of NF1. Genetic analysis of blood lymphocyte DNA identified a pathogenic variant in SMARCB1 confirming a diagnosis of schwannomatosis. Following 6-months chemotherapy for lymphoma, surgery was performed to remove lesion A. Histology revealed a malignant peripheral nerve sheath tumour with areas of low and high-grade change. An incidental, well-differentiated small bowel neuroendocrine carcinoma was also excised. Close surveillance continues with no recurrence after 6 years. This case study describes a novel finding of three separate synchronous primary malignancies in a patient with schwannomatosis and a proven SMARCB1 pathogenic variant.


Assuntos
Hemangioma/genética , Neoplasias Primárias Múltiplas/genética , Neurilemoma/genética , Neurofibromatoses/genética , Neurofibrossarcoma/genética , Proteína SMARCB1/genética , Neoplasias Cutâneas/genética , Feminino , Hemangioma/terapia , Síndrome de Horner/diagnóstico por imagem , Humanos , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/terapia , Neurilemoma/complicações , Neurilemoma/patologia , Neurilemoma/terapia , Neurofibromatoses/complicações , Neurofibromatoses/terapia , Neurofibrossarcoma/patologia , Neurofibrossarcoma/terapia , Neoplasias Retroperitoneais/genética , Neoplasias Retroperitoneais/terapia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/terapia
17.
Schmerz ; 33(4): 333-336, 2019 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-31123817

RESUMO

This is the first report of a schwannoma of the inferior gluteal nerve (IGN) as a cause of chronic low back pain in a 43-year-old man. The patient suffered from severe pain radiating to the gluteal region. He was treated for months without pain relief and was on long-term disability. Only a targeted sonographic exam revealed a hypoechoic intrapelvic mass along the course of the IGN. By tumor resection, a schwannoma was histologically confirmed. After tumor removal the patient is free of pain with all medication discontinued. He has been fully reintegrated into his professional life.


Assuntos
Dor Lombar , Neurilemoma , Adulto , Nádegas/patologia , Humanos , Dor Lombar/etiologia , Dor Lombar/cirurgia , Masculino , Neurilemoma/complicações , Neurilemoma/cirurgia , Resultado do Tratamento
18.
Eur J Med Genet ; 62(8): 103680, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31128261

RESUMO

Schwannomatosis is a rare affection predisposing to multiple peripheral neurologic tumors development. Approximatively, one third of patients with schwannomatosis are carriers of a germline mutation in LZTR1 (Leucin Zipper Transcription Regulator 1). Tumorigenesis in schwannomatosis responds to a somatic 5-hit/3-step mechanism resulting in a loss of function (LOF) of LZTR1 and the contiguous genes of locus 22q11.2q12.2. Effectively, LZTR1 is mapped on 22q11.2 and centromeric to SMARCB1 also implicated in the determinism of schwannomatosis and NF2, responsible for neurofibromatosis type 2. On a somatic point of view, LZTR1 mutations are known to drive with a significant frequency glioblastoma (GB) development. We report here two families in which segregate both multiple schwannomas and GB. In the first family, the proband received a diagnosis with of schwannomatosis after a surgery for a lumbar schwannoma at age 43, molecularly confirmed by identification of a germline heterozygous mutation in LZTR1. Her father, having unremarkable medical history deceased from an apparently isolated GB at age 59. In the second family, LZTR1-related schwannomatosis was diagnosed in the index case at age 70 after multiple schwannomas surgeries. Her elder sister had no neurological medical history before occurrence of a lethal GB at age 78. Molecular analysis of GB sample from both affected relatives showed the presence of the familial mutation. These observations hypothesize a potential link between schwannomatosis and the GB development.


Assuntos
Predisposição Genética para Doença , Glioblastoma/diagnóstico , Neurilemoma/diagnóstico , Neurofibromatoses/diagnóstico , Neoplasias Cutâneas/diagnóstico , Fatores de Transcrição/genética , Adulto , Idoso , Carcinogênese/genética , Feminino , Mutação em Linhagem Germinativa/genética , Glioblastoma/complicações , Glioblastoma/genética , Glioblastoma/patologia , Humanos , Masculino , Neurilemoma/complicações , Neurilemoma/genética , Neurilemoma/patologia , Neurofibromatoses/complicações , Neurofibromatoses/genética , Neurofibromatoses/patologia , Linhagem , Proteína SMARCB1/genética , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia
19.
World Neurosurg ; 126: 508-512, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30904802

RESUMO

BACKGROUND: Migratory tumors of the spinal cord are rare and can present as a missing tumor intraoperatively. This can lead to unnecessary abandonment of surgery or unnecessary laminectomies. CASE DESCRIPTION: We present a case of migratory intradural extramedullary tumor of the spine, which was missing intraoperatively. The surgery was abandoned, and on reimaging the tumor was found to have migrated. Here we summarize a review of the literature of such cases and the lessons we learned from our experience, emphasizing the measures to prevent tumor displacement and the importance of intraoperative imaging. CONCLUSIONS: Migratory schwannoma should be suspected in case of a missing lesion. Intraoperative ultrasonography and myelography use should be definitely considered where facility for intraoperative magnetic resonance imaging is not available. Preventive measures should be taken to avoid tumor migration in all routine cases of intradural extramedullary lesions.


Assuntos
Neurilemoma/diagnóstico por imagem , Neurilemoma/patologia , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/patologia , Adulto , Medula Cervical/diagnóstico por imagem , Medula Cervical/patologia , Humanos , Masculino , Neurilemoma/complicações , Neoplasias da Medula Espinal/complicações
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