Pyruvate carboxylase deficiency
Nov. 09, 2024
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Brain metastases: clinical vignette
This 69-year-old woman presented with confusion and word-finding difficulties. Brain MRI was obtained and showed a dominant 2.5 cm enhancing lesion in the left temporo-occipital lobe (1A). Multiple other enhancing lesions were seen, including a 7 mm left frontal gyrus (1D). Chest CT showed no evidence of a primary tumor. After multidisciplinary discussion, resection of the left temporal lesion was recommended. She was taken for a left temporal craniotomy, and the tumor was removed en bloc. Pathology from the surgery showed metastatic adenocarcinoma, and immunohistochemistry was consistent with a lung primary origin. Postoperative MRI (1B) showed no evidence of residual disease. She was evaluated by thoracic medical oncology, neuro-oncology, and radiation oncology. Postoperative radiation therapy was recommended for the resection cavity, along with stereotactic radiosurgery to the residual lesions. The resection cavity was treated with 3D conformal radiation to 30 Gy in 10 fractions (1C), and stereotactic radiosurgery was delivered to the intact lesion, 18 Gy in 1 fraction (1E.) Following completion of radiation therapy, she was treated with carboplatin, pemetrexed, and pembrolizumab. She showed no evidence of further CNS disease over 1 year after presentation. (Contributed by Dr. Helen Shih.)