Objective: To report the case of a patient with refractory seizures who was diagnosed with Glut-1 deficiency.

Background: Although Epilepsy is commonly diagnosed by child neurologists, glucose transporter-1 deficiency (GLUT1D) has recently been identified as an important cause of generalized epilepsies in childhood. A heterozygous mutation in the SLC2A1 gene compromises glucose transport into the brain, leading to insufficient glucose levels for brain metabolism. The clinical picture is characterized by refractory epilepsy, developmental delay, hypotonia, spasticity and complex movement disorder consisting of ataxia, dystonia or a combination of both.  

Methods: We report the case of a patient with refractory seizures who was diagnosed with Glut-1 deficiency.

Results: The patient was born following a normal pregnancy labor and unremarkabledelivery, with normal Apgar scores. No history of consanguinity was mentioned. At 3 months of age he started with muscles spams. His EEG was abnormal due to disorganized background activity. He also presented with global developmental delay. When he started to walk wat 2 years, new clinical symptoms were observed: episodes of asthenia during physical activity associated with hypoglycemia. Dietery changes were made to no avail.  In his first evaluation with a neurologist, he was diagnosed with possible congenital myasthenia and Mestinon was initiated. His symptoms worsened progressively until he was 13 y/o, when a new neurological evaluation revealed dystonia, ataxia, maintenance of seizures and severe intellectual disability with deficits in adaptive functioning. Due to significant clinical worsening a new work-up was done and CSF biochemistry found reduced levels of glucose. A genetic evaluation (MLPA analysis) showed a heterozygous deletion of the SLC2A1 gene, compatible with GLUT1 deficiency syndrome. Ketogenic diet was adopted and an excellent control of symptoms was achieved. The patient improved considerably his clinical condition with complete control of seizures and a remarkable reduction of the severity of the neurological disabilities.

Conclusions: Recognition of GLUT 1 deficiency as a possible cause of refractory epilepsy of childhood is important, since it is a treatable condition. Ketogenic diet can significantly reduce neurological disabilities. 

References: 1. Wang D, Kranz-Eble P, De Vivo DC. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum Mutat 2000; 16: 224–31.

2. De Giorgis V et al. Atypical manifestations in GLUT1 deficiency syndrome. J Child Neurol August 2016 vol. 31 no. 9 1174-1180.

« Back to 2017 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/glut-1-deficiency-a-case-report/