Young children with emaciation caused by a hypothalamic glioma are considered to have diencephalic syndrome (DS), which is often poorly controlled with conventional treatment. We describe an infant with DS whose tumor progressed following chemotherapy. Biopsy was performed for molecular testing and demonstrated a BRAF fusion. Treatment with the MEK inhibitor trametinib for 18 months resulted in reduction of tumor size, normalization of his weight curve, and marked neurodevelopmental improvement. Our results build on earlier reports of using targeted agents for low-grade glioma, and we review the evolving management strategy for such patients in the era of precision medicine.
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Department of Neurology, University of Virginia, Charlottesville, VA, United States.
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View Article and Find Full Text PDFPituitary gland duplication syndrome - An international imaging analysis.
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From the Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK (U.L.,F.D.), Laboratory of Developmental Biology, CNRS, Sorbonne-University, IPBS, Paris, France (M.C.), Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, United States (M.H.L.), Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy (R.P.), Department of Radiology, Tartu University Hospital, Tartu, Estonia (P.I., D.L., A.T.), Department of Radiology, The University of Tartu, Tartu, Estonia (P.I.), UOC Neuroradiologia, ASST Papa Giovanni XXIII, Bergamo, Italy (G.P.), Department of Radiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK (I.C.), Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy (M.S., A.R.) and Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy (A.R.).
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- Duplication of the pituitary gland is a rare condition, typically associated with various craniofacial malformations; this study reviewed ten patients to explore imaging features and potential causes of these anomalies.
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