RESUMO
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.
Assuntos
Canal Medular , Tumor de Wilms , Humanos , Tumor de Wilms/cirurgia , Feminino , Canal Medular/patologia , Canal Medular/diagnóstico por imagem , Adulto Jovem , Incidência , Neoplasias Renais/cirurgia , Neoplasias Renais/patologia , Neoplasias Renais/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Neoplasias da Coluna Vertebral/diagnóstico por imagemRESUMO
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.