GLUT1DS-related developmental and epileptic encephalopathy
May. 14, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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MRI, T1 in sagittal plane, of ectopic neurohypophysis in 3-day old neonate born at 37 weeks by caesarean section. This lesion was not identified in a fetal MRI performed at 25 weeks’ gestation. This infant also has bilateral periventricular nodular heterotopia, agenesis of corpus callosum, colpocephaly, hypoplastic optic nerves, and Dandy-Walker malformation. At 3 years of age, the child had epilepsy controlled by medications and was globally developmentally delayed. (Contributed by Dr. Xing-Chang Wei.)