Category: Rare Genetic and Metabolic Diseases
Objective: Submit a case of GLUT-1 deficiency for consideration in the differential diagnosis of movement disorders and refractory epilepsies because early treatment will prevent progressive neurological damage.
Background: Diagnosis of paroxysmal movement disorders can be very challenging. Among the causes of onset in childhood is GLUT-1 deficiency (500 cases worldwide) that can present as ataxia, chorea, dystonia and myoclonus.
Method: Review the medical history of a 27-year-old female patient in follow-up due to GLUT-1 deficiency.
Results: Patient with neurodevelopmental delay who had seizures in a febrile context at 10 months and 3 years of age. He was started on valproate with a good response and was withdrawn at 6 years.
The onset of epileptic visual hallucinations was at age 9, associated with greater motor clumsiness and difficulty speaking. Multiple antiepileptic drugs were used without effect. In the course of the disease, tremor and action myoclonus appeared in the extremities, retrocollis that made eating difficult, spasticity with postural alteration with a tendency to opisthotonus and ataxo-spastic gait. Symptoms worsened with menstruation and exercise, improves with eating.
Blood tests and brain MRI without findings. Discrete hypoglycorrhachia was observed in the CSF, so a molecular genetic study of the GLUT-1 gene was requested, where a heterozygous G175V mutation was observed.
A ketogenic diet adjusted by the Nutrition Unit of our center was started, after which motor skills improved and seizures disappeared. For cervical dystonia, she received botulinum toxin type A, allowing him to eat. Myoclonus partially improved with clonazepam and perampanel, pending of deep brain stimulation surgery.
Conclusion: -GLUT-1 deficiency is characterized by neurodevelopmental delay, childhood epilepsy and refractory paroxysmal movement disorders that worsen with increased energy demand.
-The CSF shows hypoglycorrhachia and the definitive diagnosis will be genetic with the mutation of the SLC2A1 gene in more than 90% of cases.
-They have a good response to the ketogenic diet, the early initiation of which will influence the prognosis.
To cite this abstract in AMA style:DD. García-Meléndez, F. Muñoz Escudero, MI. Morales-Casado, P. Lobato Casado, AM. Diezma Martín, G. Tabar Comellas, N. Sánchez Cano, B. Canovas Gaillemin, N. López Ariztegui. A bitter syndrome as a cause of refractory movement disorders [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/a-bitter-syndrome-as-a-cause-of-refractory-movement-disorders/. Accessed September 28, 2023.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-bitter-syndrome-as-a-cause-of-refractory-movement-disorders/