Germinoma in the basal ganglia with an abnormal karyotype: case report and review of the literature

Germ cell tumor of basal ganglia with abnormal constitutional karyotype has been rarely reported. A 9-year-old boy presented with precocious puberty and right hemiparesis. Magnetic resonance imaging showed high intensity on T1-weighted, T2-weighted, and contrast-enhanced T1-weighted images in the left basal ganglia and ipsilateral cerebral hemiatrophy predominantly in the basal ganglia and midbrain. Germinoma in the left basal ganglia was confirmed by stereotactic biopsy and immunochemical examination. His constitutional karyotype was 46, XY, t (8; 19), (p23.1; p13.1), a novel chromosomal abnormality. Intracranial germinoma, a potentially curable tumor, should be considered in children with nonspecific neurological symptoms, endocrinologic changes, and ipsilateral cerebral hemiatrophy on computed tomography or magnetic resonance. Investigation of chromosomal aberrations in those patients would clarify the tumorigenesis and lead to possibilities for novel disease-specific therapies.