Abstract
The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972 + 3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, spasticity, and epilepsy. Ketogenic diet was started at the age of 30 months with epilepsy improvement. She presented paroxysmal ocular movements in the first 12 months of life, recently defined as “aberrant gaze saccades”, that are present in the early phase of visual system development, being one of the first disease signs, but easily disregarded. Recognizing these particular ocular movements would allow an early diagnosis, followed by ketogenic diet implementation, improving significantly the prognosis and the neurological development of those children.
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Reis, S., Matias, J., Machado, R. et al. Paroxysmal ocular movements – an early sign in Glut1 deficiency Syndrome. Metab Brain Dis 33, 1381–1383 (2018). https://doi.org/10.1007/s11011-018-0225-3
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DOI: https://doi.org/10.1007/s11011-018-0225-3