Paroxysmal tonic upgaze of childhood and childhood absence epilepsy |
| |
| Authors: | Alberto Verrotti Giovanna Di Marco Rosanna la Torre Francesco Chiarelli |
| |
| Institution: | 1. IRCCS Istituto delle Scienze Neurologiche di Bologna, Division of Neurosurgery, AUSL di Bologna, Italy;2. IRCCS Istituto delle Scienze Neurologiche di Bologna, AUSL di Bologna, Italy;3. Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy;4. IRCCS Istituto delle Scienze Neurologiche di Bologna, Division of Neurology, AUSL di Bologna, Italy;5. Danish Epilepsy Center, Epilepsihospitalet, Dianalund, Denmark;6. Section of Pathology “M. Malpighi” at Bellaria Hospital, Department of Biomedical and Neuro Motor Sciences, University of Bologna, Bologna, Italy;1. Division of Neuropediatrics and Social Pediatrics, Dept. of Pediatrics, University Hospital RWTH Aachen, Germany;2. Department of Nephrology, Medical School, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany;3. Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany;4. Core Unit Bioinformatics, Berlin Institute of Health, Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité – Universitätsmedizin Berlin, Germany;5. Department of Nephrology and Medical Intensive Care, BCRT, Charité – Universitätsmedizin Berlin and Berlin Institute of Health, Berlin, Germany;1. Magna Graecia University, Catanzaro, Italy;2. Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy;1. Magna Graecia University, Catanzaro, Italy;2. Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy;1. Magna Graecia University, Catanzaro, Italy;2. Regional Epilepsy Center, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy;1. Pediatric Neurology Unit, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel;2. Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel;3. Institute of Medical Genetics, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel;4. Molecular Laboratory, Wolfson Medical Center, Sackler School of Medicine, Tel-Aviv University, Holon, Israel |
| |
| Abstract: | Paroxismal tonic upgaze of childhood (PTU) is a distinctive neuro-ophtalmological syndrome of unknown aetiology and pathogenesis that is characterized by episodes of sustained upward deviation of the eyes, often with incomplete downward saccades on attempted downgaze.Only few cases of PTU with co-existent epilepsy have been reported.We describe a case of female child affected by PTU who developed a childhood absence epilepsy (CAE) after 3 years from the beginning of disturbance.During hospitalization she presented repeated absence seizures; after the diagnosis of CAE, we started therapy with valproic acid (VPA). At the 6-month follow-up from the beginning of VPA therapy the child showed the disappearance of absence seizures with normalization of EEG, while no attenuation of PTU was observed.Our case suggests a possible association between PTU and epilepsy. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
