Suprasellar germ cell tumor presenting as weight loss in a 15-year-old girl with Down syndrome

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  • 体重減少を主訴に鞍上部胚細胞腫が発見されたダウン症の1例

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We are reporting on a 15-year-old girl with Down syndrome who was routinely followed up at a pediatric cardiology outpatient clinic. She had presented height and weight growth impairment 5 years earlier. A hormonal study performed 12 months earlier revealed hypothyroidism. The serum concentration of the thyroid hormone recovered with levothyroxine treatment. She was admitted to our hospital because of a 6-kg weight loss during the preceding 8 months. Magnetic resonance of the brain revealed a 1.6×1.9-cm suprasellar mass that showed high signal intensity on T1-weighted images and diffusion-weighted images, and low signal intensity on T2-weighted images. A neuroendoscopic biopsy revealed pure germinoma. The patient was treated with 3 cycles of chemotherapy consisting of carboplatin and etoposide, and with radiotherapy (25.2Gy) delivered to the sella, the lateral ventricles, and the third ventricle. The patient has remained tumor-free for 12 months. Although brain tumors are rarely associated with Down syndrome, they should be considered in patients showing neurological symptoms and growth retardation.

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