Summary We report the case of a 19 year old male patient presenting several episodes of involuntary movements of the legs in the last 3 years. These episodes were more frequent while he was working and during fatigue. In the reported circumstances he felt psychic torpor and wasn’t able to answer to questions. Moreover he had to sit down in order to avoid falling down. These episodes were always associated with a fasting state. In his family history similar episodes were reported in his father. Clinical showed only mild hyperexcitability of osteotendinea reflexes on both sides. WAIS-R testing showed a mild mental impairment and the EMG revealed abnormal amplitudes of CMAPs at the long exercise test. Preprandial EEG recording showed a slow background activity and the presence of sharp waves with a high amplitude diffuse on all regions, especially on fronto-temporal ones. Such abnormalities were clinically silent since the patient showed only a light slowness in answering questions. The postprandial EEG recording revealed a dramatic reduction of the epileptiform discharges reported as they were present only during hyperventilation. Although the CSF values were close to the normality (glycorrachia=44 mg/dl, glycorrachia/glycemia=0.59), the peculiar EEG improvement after food intake seen on the patient led us to continue our diagnostic strategy with genetic testing for Glut 1-Deficiency Syndrome, that confirmed our clinical suspect. Key words: epilepsy, EEG, Glut 1-DS, Glut 1 Deficiency

The role of pre and post prandial EEG recordings in diagnosing Glut 1-DS [Ruolo dell’EEG pre- e postprandiale nella diagnosi di Glut 1-ds]

SOFIA, Vito;BARONE, RITA MARIA ELISA;ZAPPIA, MARIO
2012-01-01

Abstract

Summary We report the case of a 19 year old male patient presenting several episodes of involuntary movements of the legs in the last 3 years. These episodes were more frequent while he was working and during fatigue. In the reported circumstances he felt psychic torpor and wasn’t able to answer to questions. Moreover he had to sit down in order to avoid falling down. These episodes were always associated with a fasting state. In his family history similar episodes were reported in his father. Clinical showed only mild hyperexcitability of osteotendinea reflexes on both sides. WAIS-R testing showed a mild mental impairment and the EMG revealed abnormal amplitudes of CMAPs at the long exercise test. Preprandial EEG recording showed a slow background activity and the presence of sharp waves with a high amplitude diffuse on all regions, especially on fronto-temporal ones. Such abnormalities were clinically silent since the patient showed only a light slowness in answering questions. The postprandial EEG recording revealed a dramatic reduction of the epileptiform discharges reported as they were present only during hyperventilation. Although the CSF values were close to the normality (glycorrachia=44 mg/dl, glycorrachia/glycemia=0.59), the peculiar EEG improvement after food intake seen on the patient led us to continue our diagnostic strategy with genetic testing for Glut 1-Deficiency Syndrome, that confirmed our clinical suspect. Key words: epilepsy, EEG, Glut 1-DS, Glut 1 Deficiency
2012
EPILEPSY; EEG; GLUT1 DEFICIENCY SYNDROME
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/43027
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