The First Case of Glucose Transporter Type 1 (GLUT-1) Deficiency Syndrome in Slovakia
V. Bzdúch 1; D. Behúlová 2; V. Klčová 1; P. Sýkora 3
I. detská klinika Lekárskej fakulty Univerzity Komenského a DFNsP, Bratislava
prednostka doc. MUDr. M. Benedeková, PhD.
1; Oddelenie klinickej biochémie DFNsP, Bratislava
vedúca MUDr. D. Behúlová, PhD.
2; Klinika detskej neurológie Lekárskej fakulty Univerzity Komenského a DFNsP, Bratislava
prednosta doc. MUDr. P. Sýkora, CSc.
Čes-slov Pediat 2006; 61 (10): 586-588.
Glucose transporter type 1 (GLUT-1) deficiency is clinical syndrome characterized by an infantile-onset epileptic encephalopathy, caused by primary deficiency of glucose transport into the brain. Early diagnosis of this condition is important, because an effective treatment is available by means of a ketogenic diet. Here authors present the first case of GLUT-1 deficiency syndrome in Slovakia.
A boy of unrelated parents presented at the age of 2.5 months with tonic seizures and shallow respiration, flushing, winking, salivation, smacking, lasted approximately 15 seconds. Two days later after DiTePer vaccination seizures were longer and more intensive. EEG was without pathology. At the age of 6 months blood and cerebrospinal fluid (CSF) glucose was estimated concurrently. The plasma glucose was 5.8 mmol/l whilst the CSF glucose was only 1.1 mmol/l. Importantly the lactate was shown to be normal at 0.86 mmol/l. Ratio of CSF/blood glucose was 0.19, the normal value being 0.6. DNA analysis confirm the diagnosis of GLUT-1 deficiency by mutation in the SLC2A1 gene. A ketogenic diet was introduced at 6 months of age. The patient tolerated the ketogenic formula well and remained seizure-free.
glucose transporter type 1 (GLUT-1) deficiency, ketogenic diet, epileptic encephalopathy
General practitioner for children and adolescents