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BACKGROUND: Wilms tumor (WT), also known as nephroblastoma, is rare in adults, accounting for merely 3% of all nephroblastomas or 0.2 cases per million individuals. Extrarenal Wilms tumor (ERWT) emerges outside the renal boundaries and comprises 0.5 to 1% of all WT cases, with even rarer incidences in adults. Oncogenic mutations associated with ectopic nephrogenic rests (NR) may contribute to ERWT development. Diagnosis involves surgical resection and pathology examination. Due to scarce cases, adults often rely on pediatric guidelines. We thoroughly searched PubMed, Scopus, and Web of Science databases to establish our case's uniqueness. To the best of our knowledge, this is the first documented incidence of extrarenal Wilms tumor within the spinal canal in the adult population. CASE PRESENTATION: A 22-year-old woman with a history of congenital lipo-myelomeningocele surgery as an infant presented with a 6-month history of back pain. This pain gradually resulted in limb weakness, paraparesis, and loss of bladder and bowel control. An MRI showed a 6 × 5 × 3 cm spinal canal mass at the L4-S1 level. Consequently, a laminectomy was performed at the L4-L5 level to remove the intramedullary tumor. Post-surgery histopathology and immunohistochemistry confirmed the tumor as ERWT with favorable histology without any teratomatous component. CONCLUSION: This report underscores the rarity of extrarenal Wilms tumor (ERWT) in adults, challenging conventional assumptions about its typical age of occurrence. It emphasizes the importance of clinical awareness regarding such uncommon cases. Moreover, the co-occurrence of spinal ERWTs and a history of spinal anomalies warrants further investigation.
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Canal Medular , Tumor de Wilms , Humanos , Tumor de Wilms/cirugía , Femenino , Canal Medular/patología , Canal Medular/diagnóstico por imagen , Adulto Joven , Incidencia , Neoplasias Renales/cirugía , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico por imagen , Neoplasias de la Columna Vertebral/cirugía , Neoplasias de la Columna Vertebral/diagnóstico por imagenRESUMEN
INTRODUCTION: Spinal epidermoid tumors are exceptionally rare, comprising less than 1 % of all spinal tumors. True intramedullary epidermoid cysts (IECs) are even more infrequent, constituting only 0.8 % of all spinal epidermoid tumors, with a notable cranial preference. Due to their gradual growth, the clinical presentation varies widely based on factors such as size, location, and the patient's age. CASE PRESENTATION: A 17-year-old male patient was admitted after experiencing an eight-month-long gradual weakening of both lower limbs. Initially, he experienced paresthesia in the right lower extremities, which progressed to gait disturbances, impacting balance and coordination. Clinical examination indicated bilateral lower limb weakness, reduced vibration sense, and proprioception with a positive clonus sign and extensor plantar responses. Magnetic resonance imaging (MRI) revealed an intramedullary lesion at the T3-T4 level, appearing hypointense on T1-weighted and hyperintense on T2-weighted images. Subsequently, the patient underwent laminectomy of the T2-T5 vertebrae and microsurgical resection of the intramedullary lesion. Histopathological analysis confirmed the diagnosis of an epidermoid cyst. Following two months of physiotherapy, there was progressive improvement in the lower limb coordination and mobility. CLINICAL DISCUSSION: Progressive neurological deficits emphasize the importance of comprehensive neurological evaluation. Diagnosis involves clinical manifestations, imaging, and histopathological examination. Patients often exhibit gradual motor weakness, sensory alterations, and varying degrees of pain. Advanced neuroimaging such as MRI aids diagnosis. Surgical resection is the primary treatment with potential complications. CONCLUSION: A multidisciplinary approach is imperative for timely diagnosis and patient management, ensuring favorable outcomes while minimizing complications.
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INTRODUCTION AND IMPORTANCE: Medulloblastoma in adults is a rare and highly aggressive central nervous system (CNS) tumor, representing less than 1 % of all brain tumors. Supratentorial metastasis is uncommon, and extra-neural metastasis occurs in approximately 5 % of cases, primarily in frontal and temporal lobes. Here, we present an exceptional case of parietal lobe metastasis in an adult with desmoplastic/nodular medulloblastoma. To explore prior cases and establish the uniqueness of our case, we conducted a thorough search on the PubMed database. CASE PRESENTATION: A 46-year-old male, who was previously treated for medulloblastoma with surgery and adjuvant chemoradiotherapy seven years ago, presented with clinical symptoms suggestive of potential tumor recurrence. Despite two years of dedicated adjuvant chemoradiotherapy, the patient exhibited progressive right hemiparesis, ataxia, and gait disturbances. Subsequent brain magnetic resonance imaging (MRI) revealed a distinct 6 × 4 × 2 cm lesion in the left parietal lobe, which, upon post-operative histopathological examination, was identified as a supratentorial metastasis originating from desmoplastic/nodular medulloblastoma. CLINICAL DISCUSSION: Medulloblastomas, once categorized as primitive neuroectodermal tumors (PNET), are now distinctly classified as high-grade embryonal tumors, mainly characterized by their histological features and cellular origin. Common clinical presentations include hydrocephalus, headache, unsteady gait, and truncal ataxia. Surgical intervention aims for radical excision, complemented by vital adjuvant chemoradiotherapy to minimize recurrence risk. CONCLUSION: Considering the possibility of tumor recurrence or intracranial metastasis in patients with medulloblastoma is crucial. Therefore, regular follow-ups are strongly recommended to promptly detect any signs of reoccurrence in these atypical presentations.
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Introduction and importance: Osteoblastoma (OB) is a rare benign bone tumor, representing less than 1% of all bone neoplasms. In contrast to the typical OB, a smaller subset known as 'epithelioid osteoblastoma (EO)' exhibits a distinctive inclination for local invasion and recurrence. This rare variant can pose diagnostic challenges, particularly due to its unclear clinical and radiological presentation. Case presentation: This study details a clinical case of a 12-year-old boy experiencing pain from a lytic bone tumor located in the thoracic vertebrae (T3-T4), initially suggesting malignancy. Following extensive curettage, histopathological analysis confirmed the diagnosis of EO through immunohistochemical staining. Subsequent follow-up at 3 months revealed the absence of no pain or recurrence of the lesion. Clinical discussion: Distinguishing EO from a malignant tumor requires a multidisciplinary approach, considering clinical, radiographic, and histological features that differentiate the two entities. Conclusion: The goal of this case presentation is to increase awareness regarding this recurrent tumor variant, which poses diagnostic challenges, particularly in distinguishing it from malignant tumors, including osteosarcoma.
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Introduction and Importance: Schwannomas, originating from Schwann cells surrounding nerve sheaths, tend to be slow-growing. Among these, giant ancient schwannomas are remarkable for their rare occurrence and their capacity for substantial growth and regressive changes. Furthermore, the expansiveness and flexibility of the retroperitoneal space often conceal the symptoms of retroperitoneal schwannomas, leading to delayed diagnosis and allowing these tumors to grow significantly and become large and long-standing before detection. Case Presentation: A 24-year-old man presented with left flank pain and a growing abdominal bulge in the left upper quadrant. Computed tomography scan revealed a 15×15×10 cm lytic expansile lesion. Consequently, the encapsulated mass was surgically excised and diagnosed as an ancient retroperitoneal schwannoma through histological and immunohistochemical studies. Clinical Discussion: Comprehensive preoperative planning and a multidisciplinary strategy are imperative for the complete excision of schwannomas. These tumors can present diagnostic complexities, particularly due to nuclear atypia and pleomorphism, which might lead to misinterpretation regarding malignancy. Despite the risks associated with percutaneous biopsies, the low mitotic count is a critical diagnostic factor. Our study underscores the consensus that the definitive diagnosis should rely on postoperative histopathological findings, highlighting the importance of accurate assessment. Conclusion: Rare giant retroperitoneal ancient schwannomas pose diagnostic challenges due to their rarity, lack of distinct symptoms, and atypical locations. This study presents a successful case and management.
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One of the most invasive malignant tumors of the cerebellum is medulloblastoma, which is also the most common malignant tumor of the brain in children. Patients with a recurrent disease following initial treatment have the most unfavorable prognosis. The most common metastasis locations are the spine, the posterior fossa, the bones, and the supratentorium. Late medulloblastoma metastasis in the supratentorial intraventricular region is uncommon. We report here a case with supratentorial seeding.