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
© 2019 Piotr Bogucki et al., published by Sciendo
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
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
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.