Misdiagnosis Analysis of Neuronal Intranuclear Inclusion Disease with MELAS

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作者单位: 济宁医学院临床医学院(附属医院)，山东济宁山东第一医科大学附属济宁市第一人民医院放射科，山东济宁山东第一医科大学附属济宁市第一人民医院放射科，山东济宁山东第一医科大学附属济宁市第一人民医院神经内科，山东济宁

关键词: 神经元核内包涵体病皮层肿胀磁共振成像基因检测 Neuronal Intranuclear Inclusion Disease Cortical Swelling Magnetic Resonance Imaging Gene Detection

摘要: This paper reports a case of neuronal intranuclear inclusion disease characterized by cortical swelling on MRI. A 56-year-old male patient was admitted to the hospital due to mental disorders and right limb weakness for three days. The left parietal-occipital-temporal lobe cortex was swollen, T1WI showed a slightly low signal, T2WI showed a slightly high signal, T2-FLAIR showed a high signal, DWI showed a high signal, MRS showed a wide Lac peak, an enhanced scan showed left cerebral hemisphere g...更多; This paper reports a case of neuronal intranuclear inclusion disease characterized by cortical swelling on MRI. A 56-year-old male patient was admitted to the hospital due to mental disorders and right limb weakness for three days. The left parietal-occipital-temporal lobe cortex was swollen, T1WI showed a slightly low signal, T2WI showed a slightly high signal, T2-FLAIR showed a high signal, DWI showed a high signal, MRS showed a wide Lac peak, an enhanced scan showed left cerebral hemisphere gyrus-like enhancement and meningeal enhancement. Because of its lack of characteristic high signal along the corticomedullary junction on DWI, it was misdiagnosed as meningoencephalitis and MELAS. After genetic testing, it was diagnosed as neuronal intranuclear inclusion disease.收起

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