Familial neurofibromatosis 1 with germinoma involving the basal ganglion and thalamus

Tai-Tong Wong, Donald M. Ho, Te Kau Chang, Dje Dong Yang, Liang Shong Lee

研究成果: 雜誌貢獻文章同行評審

21 引文 斯高帕斯(Scopus)


Intracranial germinoma associated with neurofibromatosis 1 (NF-1) has never been documented previously. We report a case of familial NF-1 with a germinoma involving the right basal ganglion and thalamus. A 12-year-old boy presented with multiple café-au-lait spots and a family history of neurofibromatosis in his mother, one of two siblings, and his maternal grandfather. His intracranial lesion was subtotally resected. Histologically, it was a pure germinoma. Serum α-feto protein and β-human chorionic gonadotropin levels were within the normal range. Postoperative myelographic examination and cerebrospinal fluid cytology study showed no evidence of subarachnoid seeding. The patient received postoperative combination chemotherapy resulting in complete response and clearance of the residual tumor. Although this finding of an intracranial germinoma in a patient with familial NF-1 may be coincident, it is suggestive of a potential genetic predisposition. Longitudinal evaluation for the possibility of neoplasm, especially germ cell tumor, in basal ganglion lesions in NF-1 patients is necessary.

頁(從 - 到)456-458
期刊Child's Nervous System
出版狀態已發佈 - 8月 1 1995

ASJC Scopus subject areas

  • 兒科、圍產兒和兒童健康
  • 神經病學(臨床)


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