PTEN hamartoma tumor syndrome (PHTS) is a spectrum of hereditary cancer syndromes caused by germline mutations in PTEN. PHTS is of high interest, because of its high rate of neurological comorbidities including macrocephaly, autism spectrum disorder, and intellectual dysfunction. Since detailed brain morphology and connectivity of PHTS remain unclear, we quantitatively evaluated brain magnetic resonance imaging (MRI) in PHTS. Sixteen structural T1-weighted and 9 diffusion-weighted MR images from 12 PHTS patients and neurotypical controls were used for structural and high-angular resolution diffusion MRI (HARDI) tractography analyses. Mega-corpus callosum was observed in 75%, polymicrogyria in 33%, periventricular white matter lesions in 83%, and heterotopia in 17% of the PHTS participants. While gyrification index and hemispheric cortical thickness showed no significant differences between the two groups, significantly increased global and regional brain volumes, and regionally thicker cortices in PHTS participants were observed. HARDI tractography showed increased volume and length of callosal pathways, increased volume of the arcuate fasciculi (AF), and increased length of the bilateral inferior longitudinal fasciculi (ILF), bilateral inferior fronto-occipital fasciculi (IFOF), and bilateral uncinate fasciculus. A decrease in fractional anisotropy and an increased in apparent diffusion coefficient values of the AF, left ILF, and left IFOF in PHTS.

中文翻译：

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PTEN错构瘤肿瘤综合征的脑形态学分析。

PTEN 错构瘤肿瘤综合征 (PHTS) 是由 PTEN 种系突变引起的一系列遗传性癌症综合征。PHTS 备受关注，因为其神经系统合并症的发生率很高，包括大头畸形、自闭症谱系障碍和智力障碍。由于 PHTS 的详细脑形态和连通性尚不清楚，我们定量评估了 PHTS 中的脑磁共振成像 (MRI)。来自 12 名 PHTS 患者和神经典型对照的 16 幅结构 T1 加权和 9 幅弥散加权 MR 图像用于结构和高角分辨率扩散 MRI (HARDI) 纤维束成像分析。在 PHTS 参与者中，75% 的人观察到胼胝体巨型胼胝体、33% 的多小脑回、83% 的脑室周围白质病变和 17% 的异位。虽然 gyrification 指数和半球皮质厚度显示两组之间没有显着差异，但观察到 PHTS 参与者的全球和区域脑容量显着增加，并且区域皮质更厚。HARDI 纤维束成像显示胼胝体通路的体积和长度增加，弓状束 (AF) 体积增加，双侧下纵束 (ILF)、双侧下额枕束 (IFOF) 和双侧钩状束的长度增加。PHTS 中 AF、左侧 ILF 和左侧 IFOF 的各向异性分数降低和表观扩散系数值增加。HARDI 纤维束成像显示胼胝体通路的体积和长度增加，弓状束 (AF) 体积增加，双侧下纵束 (ILF)、双侧下额枕束 (IFOF) 和双侧钩状束的长度增加。PHTS 中 AF、左侧 ILF 和左侧 IFOF 的各向异性分数降低和表观扩散系数值增加。HARDI 纤维束成像显示胼胝体通路的体积和长度增加，弓状束 (AF) 体积增加，双侧下纵束 (ILF)、双侧下额枕束 (IFOF) 和双侧钩状束的长度增加。PHTS 中 AF、左侧 ILF 和左侧 IFOF 的各向异性分数降低和表观扩散系数值增加。