Atypical Manifestations in Glut1 Deficiency Syndrome

V De Giorgis; C Varesio; C Baldassari; E Piazza; S Olivotto; J Macasaet; U Balottin; P Veggiotti

doi:10.1177/0883073816650033

Atypical Manifestations in Glut1 Deficiency Syndrome

J Child Neurol. 2016 Aug;31(9):1174-80. doi: 10.1177/0883073816650033. Epub 2016 Jun 1.

Authors

V De Giorgis¹, C Varesio², C Baldassari², E Piazza¹, S Olivotto², J Macasaet³, U Balottin⁴, P Veggiotti⁵

Affiliations

¹ Brain and Behaviour Department, University of Pavia, Pavia, Italy.
² Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
³ Department of Neurosciences, Makati Medical Center, Manila, Philippines.
⁴ Brain and Behaviour Department, University of Pavia, Pavia, Italy Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
⁵ Brain and Behaviour Department, University of Pavia, Pavia, Italy Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy pierangelo.veggiotti@unipv.it.

PMID: 27250207
DOI: 10.1177/0883073816650033

Abstract

Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that we consider equally peculiar but that have so far been poorly described in literature. In this review, supported by a video contribution, we will accurately describe this type of clinical manifestation such as oculogyric crises, weakness, paroxysmal kinesigenic and nonkinesigenic dyskinesia in order to provide an additional instrument for a correct, rapid diagnosis.

Keywords: GLUT1DS; SCL2A1; fatigue; oculogyric crises; paroxysmal kinesigenic dyskinesia; paroxysmal nonkinesigenic dyskinesia.

MeSH terms

Adolescent
Carbohydrate Metabolism, Inborn Errors / diagnosis*
Carbohydrate Metabolism, Inborn Errors / genetics
Carbohydrate Metabolism, Inborn Errors / physiopathology*
Child
Child, Preschool
Diagnosis, Differential
Disease Progression
Female
Glucose Transporter Type 1 / genetics
Humans
Infant
Male
Monosaccharide Transport Proteins / deficiency*
Monosaccharide Transport Proteins / genetics
Mutation
Phenotype
Retrospective Studies
Video Recording
Young Adult

Substances

Glucose Transporter Type 1
Monosaccharide Transport Proteins
SLC2A1 protein, human

Supplementary concepts

Glut1 Deficiency Syndrome