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

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20 Citations (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.

Original languageEnglish
Pages (from-to)456-458
Number of pages3
JournalChild's Nervous System
Issue number8
Publication statusPublished - Aug 1 1995
Externally publishedYes


  • Autosomal disorder
  • Germinoma
  • Intracranial
  • Neurofibromatosis 1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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