Presacral Ganglioneuroma in a 30-Year-Old Female: Case Report and Literature Review

Background: Ganglioneuromas are rare, benign tumors derived from neural crest cells of the sympathetic nervous system. These tumors are typically found in the posterior mediastinum and retroperitoneum, and are characterized by well-differentiated ganglion and Schwann cells. Presacral ganglioneuromas are extremely uncommon, with few cases documented in the literature. Their rarity and nonspecific clinical presentation can pose diagnostic challenges. It is worth mentioning that there are few cases in the literature report ganglioneuroma in association with MEN type 2B. Case Presentation: We report the case of a 30-year-old female who presented with a three-month history of mild lower abdominal discomfort and non-radicular lower back pain. Her physical examination was unremarkable, and routine laboratory investigations, including tumor markers and catecholamine levels, were within normal limits. Initial ultrasonography was inconclusive. However, contrast-enhanced computed tomography (CT) revealed a well-circumscribed, 5 × 3 cm lesion in the presacral region, causing widening of the right middle sacral foramina. Magnetic resonance imaging (MRI) further characterized the mass as isointense on T1-weighted imaging and heterogeneously hyperintense on T2-weighted imaging, with peripheral enhancement after gadolinium administration. Given its location and imaging characteristics, the lesion was surgically excised via microscopic resection. The postoperative course was uneventful, and the patient was discharged in stable condition. Histopathologic analysis confirmed the diagnosis of ganglioneuroma, revealing mature ganglion cells embedded in a schwannian stroma with fibrous and edematous areas. Conclusion: This case underscores the importance of considering ganglioneuroma in the differential diagnosis of presacral masses. Timely imaging and surgical intervention are key to effective management and favorable outcomes. We present a rare case of a presacral ganglioneuroma in a 30-year-old female patient who experienced mild lower abdominal discomfort and non-radicular lower back pain over a three-month period, without significant neurological symptoms. Diagnostic imaging revealed a presacral lesion at the S2-3 level, leading to a surgical intervention that resulted in a subtotal excision of the mass. Histopathological analysis confirmed the diagnosis of ganglioneuroma. This case underscores the importance of considering presacral ganglioneuroma in the differential diagnosis of presacral lesions, given their subtle presentation and potential complications.