<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2019-006_s_001"><h3>Background.</h3><p>Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic disorder caused by mutation in the <italic>SLC2A1</italic> gene. The functional deficiency of the GLUT1 protein leads to impaired glucose transport into the brain, resulting in a spectrum of neurological phenotypes. The most severe classic phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor coordination disturbances, and spasticity. The less severe clinical features, such as paroxysmal exercise-induced dystonia with or without epileptic seizures, are also observed.</p></sec><sec id="j_joepi-2019-006_s_002"><h3>Aim.</h3><p>Hypothesis, that one possible treatment option entails intrathecal injection of glucose.</p></sec><sec id="j_joepi-2019-006_s_003"><h3>Material and Methods.</h3><p>We describe a woman, who was diagnosed as having epilepsy and treated for years with different antiepileptic drugs with no clinical effect. She had only two generalized tonic clonic seizures in her life. The patient suffered from increasing frequency of the paroxysmal involuntary movements of lower limbs, leading to gait disturbances and falls, which were misdiagnosed as epileptic seizures. The jerks of the head and limbs were observed from the first months of her life. The symptoms were provoked by stress and exertion. Additionally, mild intellectual disability was noted during her growth.</p></sec><sec id="j_joepi-2019-006_s_004"><h3>Results.</h3><p>Glucose concentrations in cerebrospinal fluid were low. The <italic>SLC2A1</italic> gene analysis resulted in the identification of a heterozygous missense mutation p.Arg333Trp. identification. The diagnosis of GLUT1-DS was confirmed.</p></sec><sec id="j_joepi-2019-006_s_005"><h3>Conclusion.</h3><p>Delayed diagnosis resulted in many problems with the acceptance of the ketogenic diet, which is considered the treatment of choice in GLUT1 deficiency syndromes. To our knowledge, this is the first case report of GLUT1-DS diagnosis occurring in adulthood and published in Poland.</p></sec></abstract>

Background.Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic disorder caused by mutation in the SLC2A1 gene. The functional deficiency of the GLUT1 protein leads to impaired glucose transport into the brain, resulting in a spectrum of neurological phenotypes. The most severe classic phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor coordination disturbances, and spasticity. The less severe clinical features, such as paroxysmal exercise-induced dystonia with or without epileptic seizures, are also observed.Aim.Hypothesis, that one possible treatment option entails intrathecal injection of glucose.Material and Methods.We describe a woman, who was diagnosed as having epilepsy and treated for years with different antiepileptic drugs with no clinical effect. She had only two generalized tonic clonic seizures in her life. The patient suffered from increasing frequency of the paroxysmal involuntary movements of lower limbs, leading to gait disturbances and falls, which were misdiagnosed as epileptic seizures. The jerks of the head and limbs were observed from the first months of her life. The symptoms were provoked by stress and exertion. Additionally, mild intellectual disability was noted during her growth.Results.Glucose concentrations in cerebrospinal fluid were low. The SLC2A1 gene analysis resulted in the identification of a heterozygous missense mutation p.Arg333Trp. identification. The diagnosis of GLUT1-DS was confirmed.Conclusion.Delayed diagnosis resulted in many problems with the acceptance of the ketogenic diet, which is considered the treatment of choice in GLUT1 deficiency syndromes. To our knowledge, this is the first case report of GLUT1-DS diagnosis occurring in adulthood and published in Poland.

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report

Journal of Epileptology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Background.Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic disorder caused by mutation in the SLC2A1 gene. The functional...

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report

Article Category: case-report

Publié en ligne: 21 nov. 2019

Pages: 49 - 54

Reçu: 03 oct. 2019

Accepté: 04 nov. 2019

DOI: https://doi.org/10.21307/joepi-2019-006

Mots clés
GLUT-1 deficiency, ketogenic diet, epilepsy, dystonia

© 2019 Piotr Bogucki et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report

Article Category: case-report

Publié en ligne: 21 nov. 2019

Pages: 49 - 54

Reçu: 03 oct. 2019

Accepté: 04 nov. 2019

DOI: https://doi.org/10.21307/joepi-2019-006

Mots clésGLUT-1 deficiency, ketogenic diet, epilepsy, dystonia

© 2019 Piotr Bogucki et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Mots clés
GLUT-1 deficiency, ketogenic diet, epilepsy, dystonia