Clinical Presentation, Radiological Features, and Treatment Response of Basal Ganglia Germinoma: Case Series
JCX Chan, TW Yeung, HY Lau, CB Tan, YC Wong, JCW Siu
Hong Kong J Radiol 2019;22:39-48
https://doi.org/10.12809/hkjr1916929
Objective: To evaluate the clinical presentation, radiological features, and treatment response of basal ganglia
germinoma upon retrospective review of five patients.
Methods: From 2007 to 2015, five patients had histological diagnosis of basal ganglia germinoma at a tertiary centre in Hong Kong. Their clinical presentation, initial serum beta human chorionic gonadotropin (bHCG) and alpha fetoprotein (AFP) levels, radiological features, and treatment response were reviewed.
Results: All five patients were male (mean [± standard deviation] age, 15.6 ± 6.8 years). The most common presentation was contralateral weakness (n=3). 80% of the patients (n=4) had elevated serum bHCG level (normal range: <5.0 IU/L) while all had normal serum AFP level (normal range: <6.0 ng/mL). Computed tomography (CT) brain studies detected hyperdense component in all basal ganglia germinoma. Magnetic resonance imaging (MRI) brain studies demonstrated complex mixed cystic and solid appearance (mean [± standard deviation] diameter, 2.7 ± 0.6 cm) with variable degree of contrast enhancement. Cerebrospinal fluid dissemination was seen in one patient complicated by hydrocephalus. More than half of the patients (n=3) showed smaller ipsilateral cerebral peduncle at the time of presentation. Radiotherapy was given to all patients while three received adjuvant chemotherapy. Most (n=4) showed complete response without MRI evidence of residual tumour. One patient had excellent recovery without any focal neurological deficit; three experienced mild residual hemiplegia.
Conclusion: Atypical location of germinoma in basal ganglia commonly presents with contralateral weakness and elevated serum bHCG level. Characteristic imaging features include hyperdense component on CT and complex mixed cystic and solid appearance, contrast enhancement and ipsilateral Wallerian degeneration on MRI. Early recognition of the disease is essential for accurate diagnosis and prompt management to improve the neurological outcomes of these patients.
Author affiliation(s):
JCX Chan, TW Yeung, HY Lau, CB Tan, YC Wong, JCW Siu: Department of Radiology, Tuen Mun Hospital, Tuen Mun, Hong Kong
中文摘要
基底核生殖細胞瘤臨床表現、影像學表徵及治療反應的病例研究
陳積聖、楊子慧、劉顯宇、陳崇文、王耀忠、蕭志偉
目的：回顧性評論五位基底核生殖細胞瘤患者的臨床表現、影像學表徵及治療效果。
方法：由2007年到2015年期間，回顧香港一所專科醫療中心五位組織學確診基底核生殖細胞瘤病人的臨床表現，始初血清內乙型絨毛膜促性腺激素及甲胎蛋白的水平，影像學表徵及治療效果。
結果：：五位病人全為男性（平均年齡 ± 標準差：15.6 ± 6.8歲）。最常見的表徵為對側肢體無力（n=3）。八成病人（n=4）的血清內乙型絨毛膜促性腺激素的水平過高（正常值低於5.0 IU/L），而甲胎蛋白的水平則為正常（正常值低於6.0 ng/mL）。電腦斷層掃描（CT）顯示所有基底核生殖細胞瘤均有高密度部分。磁力共振成像（MRI）顯示複雜性囊性及腫塊（平均長度 ± 標準差：2.7± 0.6 cm），並有不同程度的造影訊號增強。一位病人發現腦脊液擴散導致腦積水。超過一半患者（n=3）於病發時的同側大腦腳細小。所有病人均接受放射治療，三位病人接受輔助化療。大部分病人（n=4）的治療效果為完全有效並且在MRI上沒有剩餘腫瘤。一位病人康復良好並沒有任何局部神經功能缺損；三位病人則有輕微偏癱。
結論：生殖細胞瘤原發於基底核為非典型的位置，通常表徵包括對側肢體無力，以及血清內乙型絨毛膜促性腺激素水平升高。影像學特性在CT上為高密度部分，在MRI上為複雜性囊性及腫塊，造影訊號增強及同側Wallerian退變。早期發現病情可準確診斷及迅速處理病情，從而改善這些病人的神經學治療結果。