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Academia Mexicana de Neurología, A.C.

2016, Number 1

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Rev Mex Neuroci 2016; 17 (1)

GLUT1-deficiency syndrome: Report of an atypical phenotype

Centeno-Arispe JJ, Escalante-Canorio J, Escalante-Gavancho C

Language: Spanish
References: 17
Page: 98-104
PDF size: 224.64 Kb.


ABSTRACT

Introduction: Glucose transporter protein type 1 (GLUT1)-deficiency syndrome is rare. It usually occurs in children and is caused by an alteration of GLUT1, secondary to a mutation in the SLC2A1 gene located on chromosome 1p34.2. It manifests itself as a classic phenotype characterized by mental retardation, movement disorders and epilepsy. The so-called non-classical phenotype is characterized by movement disorders without epilepsy, and the atypical phenotype as paroxysmal dyskinesia induced by exercise. The hypoglycorrhachia in absence of neuroinfection suggests the diagnosis.
Case report: We present the case of a 7-yearold boy with normal psychomotor development, who after physical activity of moderate intensity presented self-limiting choreic movements in the lower limbs. He had a normal physical exam. CSF glucose concentration was 1.94mmol/L (reference range: 2.5-3.7 mmol/L). The study of video-electroencephalogram showed small bilateral occipital spikes followed by bilateral frontal spike-and-slow-wave complexes without clinical seizures. Neuropsychological assessment showed borderline intellectual capacity, with an intelligence quotient of 75.
Conclusion: This case report shows a rare neurological condition, which may present in children with paroxysmal exercise-induced dyskinesia, with or without other neurological disorders. Hypoglycorrhachia in the absence of neuroinfection suggests the diagnosis and is a highly sensitive biochemical marker of GLUT-1 deficiency syndrome.


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