Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment

The Journal of Pediatrics
Cigdem Inan AkmanDarryl C De Vivo

Abstract

To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers. Average age of the first event was 8.15 ± 11.9 months (range: 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r: -0.17, 0.22, and 0.25 respectively, P < .05). There was no correlation with age of first event and red blood cell glucose uptake or mutation type. Glut1 DS is a treatable cause of infantile onset encephalopathy. Health care providers should recognize the wide spectrum of paroxysmal events t...Continue Reading

References

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Citations

Jul 30, 2016·Developmental Medicine and Child Neurology·Clara D M Van Karnebeek
May 2, 2017·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·Valentina PucciarelliChiarella Sforza
Feb 27, 2019·Current Neurology and Neuroscience Reports·Sean T HwangSimona V Proteasa
Nov 11, 2018·Archives of Disease in Childhood·Richard E Appleton, Rajat Gupta
Mar 28, 2017·Neurology·Toni S PearsonDarryl C De Vivo
Jul 12, 2018·Clinical Genetics·K A MyersD A Dyment
May 8, 2018·Metabolic Brain Disease·Sofia ReisJosé Paulo Monteiro
Nov 30, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·Lisette H KoensTom J de Koning

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