<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...

Age	Symptoms and signs
Infancy	“Uncontrolled” eyes (nystagmus)
	Head and limbs movement
	Trunk twisting
	“Stiffness”
	Fatigability of lower limbs
Childhood (early)	Sudden “absence states”
	Balance disturbances
	Collapses
	Increased muscles strains
	The attacks resulted from even little effort
	Tension of muscles decreased in limbs
	The psychomotor development delayed
	Delayed walking, at the age of 2,5 yrs
	Delayed speech, at the age of 3 yrs
	The first generalized epileptic seizure at the age of 4 yrs
	The second and the last epileptic seizure at the age of 6 yrs
Chlidhood	Sudden involuntary movements with collapses
Chlidhood	Optic-motor coordination disturbances
Adolescence	Paroxysmal speech difficulties (“aphasia”) with pyramidal symptoms in right limbs and involuntary movements of lower limbs
	Gait disturbances lasting for several hours leading to falls, escalated by exertion
	Paroxysmal incidents during awaking and falling asleep (myoclonic jerks)
	Headaches
	Writing disturbances
	Abrupt body stiffness
	Tightened eyes followed by head and trunk dropping on a desk
	Incidents of hypoglycemia connected with symptoms
Adulthood	Tremor of upper limbs

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

Article Category: case-report

Publicado en línea: 21 nov 2019

Páginas: 49 - 54

Recibido: 03 oct 2019

Aceptado: 04 nov 2019

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

Palabras clave
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.

Figure 1.

Clinical symptoms during the course of disease

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

Article Category: case-report

Publicado en línea: 21 nov 2019

Páginas: 49 - 54

Recibido: 03 oct 2019

Aceptado: 04 nov 2019

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

Palabras claveGLUT-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.

Figure 1.

Clinical symptoms during the course of disease

Palabras clave
GLUT-1 deficiency, ketogenic diet, epilepsy, dystonia