Diffusion tensor imaging and magnetic resonance spectroscopy in a patient with adult onset tuberous sclerosis complex
Diffusion tensor imaging and magnetic resonance spectroscopy in a patient with adult onset tuberous sclerosis complex
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成人结节性硬化症患者的弥散张量成像和磁共振波谱
DOI：
10.1016/j.jocn.2017.10.072
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发表时间：
2018
期刊：
影响因子：
2
通讯作者：
Tomimoto Hidekazu
中科院分区：
文献类型：
--
作者：
Ishikawa Hidehiro;Niwa Atsushi;Asahi Masaru;Matsuura Keita;Masuzugawa Satoshi;Niida Yo;Maeda Masayuki;Kondo Mineo;Tomimoto Hidekazu
结节性硬化症 (TSC) 1 或 TSC2 在大多数 TSC 患者中发生突变。与 TSC1 相比，TSC2 突变更常与更差的预后、癫痫发作年龄更早、更严重的智力障碍和更高的结节负荷相关。白质受累程度被认为与神经损伤的严重程度有关。目前，TSC 的基因型-表型相关性以及块茎负担与神经功能障碍之间的关系尚存在争议。我们介绍了一名 43 岁的 TSC2 突变患者，尽管有多个脑结节，但症状仅为不完全象限视野缺损。视野缺损被认为是由于弥散张量成像显示视辐射上部内侧部分的小病变所致。她的脑块在磁共振波谱中显示正常。我们的病例表明，TSC 的神经学和神经精神表现受病变质量而非数量的影响。此外，MRS 可能有助于确定 TSC 患者脑结节与神经功能障碍之间的相关性。
Tuberous sclerosis complex (TSC) 1orTSC2is mutated in most TSC patients.TSC2mutations are more frequently associated with worse outcomes, earlier age at seizure onset, more severe intellectual disability, and higher tuber load thanTSC1. The degree of white matter involvement is thought to be associated with the severity of neurological impairment. At present, genotype–phenotype correlations and relationship between tuber burden and neurological disability in TSC are debatable. We presented a 43-year-old patient withTSC2mutation, whose symptom was only incomplete quadrantic visual field deficit in spite of multiple brain tubers. The visual field deficit was thought to be due to a small lesion in the upper medial part of the optic radiation revealed by diffusion tensor imaging. Her brain tubers showed normal findings in magnetic resonance spectroscopy. Our case suggested that neurological and neuropsychiatric manifestations of TSC are affected by the quality rather than number of the lesions. In addition, MRS may be useful to identify the correlation between brain tubers and neurological disability in TSC patients.