| CASE REPORT |
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| Year : 2018 | Volume
: 13
| Issue : 4 | Page : 496-499 |
Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene
Tullio Messana, Angelo Russo, Raffaella Vergaro, Antonella Boni, Margherita Santucci, Antonella Pini
Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Bologna, Italy
Correspondence Address:
Dr. Tullio Messana
Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences, Via Altura N 3, Bologna 40139
Italy
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/JPN.JPN_169_17
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, and dystonia can frequently be present. GLUT1-DS is an inborn error of metabolism caused by impaired glucose transport through blood–brain barrier in the majority of patients because of mutation of solute carrier family 2 (facilitated glucose transporter) member 1 gene (SLC2A1), encoding the transporter protein. We report a 6-year-old girl with GLUT1-DS, which is caused by a novel heterozygous variant c.109dupC of the SLC2A1 gene. The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability. Treatment with ketogenic diet showed clinical improvement with the reduction of ataxia and seizure control in a 10-month follow-up period.
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