A patient with Muenke syndrome manifesting migrating neonatal seizures
| Autor: | Takuya Miyabayashi, Hiroshi Oba, Sato Suzuki-Muromoto, Yukimune Okubo, Mai Anzai, Wakaba Endo, Noriko Togashi, Naomichi Matsumoto, Hirotomo Saitsu, Taro Kitamura, Kazuhiro Haginoya, Takehiko Inui, Yusuke Takezawa |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Hippocampus Hippocampal formation Lateralization of brain function Muenke syndrome Craniosynostoses 03 medical and health sciences 0302 clinical medicine Japan Developmental Neuroscience Neuroimaging Seizures medicine Humans Focal status epilepticus Epileptic encephalopathy Brain Ictal eeg Electroencephalography General Medicine medicine.disease Magnetic Resonance Imaging Temporal Lobe 030104 developmental biology Epilepsy Temporal Lobe nervous system Child Preschool Anesthesia Pediatrics Perinatology and Child Health Epilepsies Partial Neurology (clinical) Psychology 030217 neurology & neurosurgery |
| Zdroj: | Brain and Development. 39:873-876 |
| ISSN: | 0387-7604 |
| Popis: | We report a patient with Muenke syndrome who had repetitive apneic spell followed by focal status epilepticus in the early infancy. Ictal EEG showed focal spikes bursts originated from the left hemisphere and sifted to the right hemisphere, during which he had migrating tonic seizures from right side of the body to the left side of the body. Brain MRI showed abnormal development of bilateral hippocampus, which was characterized as abnormal folding of hippocampal gyri. However, the long-term seizure prognosis was favorable. Results from this and previous studies failed to support the notion that FGFR3 (P250) mutation results in epileptic encephalopathy. |
| Databáze: | OpenAIRE |
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