Teaching NeuroImages: Atrophy in epileptic encephalopathy
| Autor: | Ingo Helbig, Laura Adang |
|---|---|
| Rok vydání: | 2023 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Inversion recovery 03 medical and health sciences 0302 clinical medicine Atrophy Thalamus Neuroimaging Gene panel medicine Humans Child medicine.diagnostic_test business.industry Epileptic encephalopathy Disease progression Magnetic resonance imaging medicine.disease Magnetic Resonance Imaging 030104 developmental biology Disease Progression Female Neurology (clinical) Signal intensity business Spasms Infantile 030217 neurology & neurosurgery |
| Zdroj: | Neurology. 100:S38-S39 |
| ISSN: | 1526-632X 0028-3878 |
| Popis: | Neuroimaging in a 6-year-old girl with an unknown neurodegenerative disorder showed atrophy and bilateral thalamic T2/fluid-attenuated inversion recovery hyperintense signal intensity (figure). A mitochondrial or metabolic condition was suspected. Through a targeted gene panel, the patient was found to have a de novo KCNT1 mutation, a gene known to cause of a broad range of epileptic encephalopathies.1 |
| Databáze: | OpenAIRE |
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