【双语病例】颅脑|女，33岁，癫痫发作

病史及MR图像

病史：33岁女性,复杂性部分发作型癫痫。

下列哪一结构未见受累？

•  Temporal lobe颞叶

•  Amygdala杏仁核

•  Hippocampus海马

•  Temporal pole颞极

•  Parahippocampal gyrus海马旁回

病灶有强化。

•  对

•  错

侧脑室颞角有阻塞。

•  对

•  错

该病变与病人临床表现相关。

•  对

•  错

最有可能的诊断是？

•  Arachnoid cyst蛛网膜囊肿

•  Dysembryoplastic neuroepithelial tumor胚胎发育不良性神经上皮瘤

•  Dilated perivascular space V-R间隙扩大

•  Pleomorphic xanthoastrocytoma多形性黄色星形细胞瘤

  
  

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MRI demonstrates a left medial temporal lobe mass consisting of numerous small to medium-sized cystic components with “bubbly appearance” involving the amygdala, anterior hippocampus, and anterior parahippocampal gyrus.
There is a larger area of surrounding expansile T2 FLAIR signal abnormality extending through the left posterior hippocampus, midfusiform gyrus, and temporal periventricular white matter along the inferolateral temporal horn.
There is faint peripheral enhancement around one of the cystic components in the left parahippocampal gyrus.
A cystic component extending into the lateral ventricle results in mild trapping and prominence of the anterior temporal horn.
MRI示：左内侧颞叶占位，内见多发小至中等大小囊泡样结构，呈泡沫样改变。病灶累及杏仁核、前海马体及前海马旁回。T2WI-FLAIR病灶周围可见大片异常信号，包括左侧海马后部、梭状回和侧脑室颞角周围白质。 位于左侧海马旁回的一枚囊性灶周围可见轻度强化。囊性成分延伸至左侧脑室导致其轻度阻塞，左侧颞角为著。

鉴别诊断

• Dysembryoplastic neuroepithelial tumor (DNET)

• Pilocytic astrocytoma毛细胞型星形细胞瘤

• Pleomorphic xanthoastrocytoma多形性黄色星形细胞瘤

• Multinodular and vacuolating neuronal tumor多结节和空泡神经肿瘤

• Tumefactive perivascular spaces血管周围间隙

• Arachnoid cysts蛛网膜囊肿

• Cystic periventricular leukomalacia囊性脑室周围白质软化症

• 
  

• 诊断: 胚胎发育不良性神经上皮瘤(DNET)

附加题

适当的治疗是？

•  Surgical resection手术切除

•  Medical treatment of epilepsy针对癫痫的药物治疗

•  Observation观察

This tumor is highly aggressive.此肿瘤有极强的侵袭性。

•  对

•  错

This lesion is associated with cortical dysplasia.此病与皮质发育不良相关。

•  对

•  错

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Discussion讨论

Pathophysiology/epidemiology 病理生理/流行病

Dysembryoplastic neuroepithelial tumors are benign, slow-growing, glioneuronal World Health Organization (WHO) grade 1 tumors arising from cortical or deep gray matter. They are solid tumors with cystic/microcystic components that usually occur in younger patients, with the peak age of presentation between ages 10 and 30 years. They are more common in males than females. They are a common cause of tumor-related intractable epilepsy. They are most commonly associated with complex partial seizures in the temporal lobe.
The histopathologic hallmark of DNETs is the presence of the specific glioneuronal element (SGNE), which consists of small, round, oligodendroglial-like cells arranged in columns around a central core of axon bundles that run perpendicular to the cortical surface. DNETs are associated with adjacent cortical dysplasia in up to 80% of cases. There are three main histologic forms. The simple form only contains SGNE. The complex form contains SGNE and glial nodules, multinodular architecture, and focal cortical dysplasia. The nonspecific form has similar neuroimaging features but no SGNE. There have been only a few reported cases of malignant transformation, which have been associated with extratemporal locations (Moazzam et al, 2014).
DNETs是一种缓慢生长的良性神经胶质肿瘤（WHO 1级），起源于皮质或深部灰质。肿瘤为实性伴有囊或微囊成分，通常发生于年轻人，高峰发病年龄为10到30岁，男性多于女性。是肿瘤相关性难治性癫痫的常见病因。常与颞叶复杂性部分发作型癫痫相关。
DNETs组织病理学标志性的特征是它特殊的胶质成分（SGNE），由围绕在垂直于皮层表面的轴突束周围的小圆少突胶质样细胞构成。大约80%的DNETs病例伴有相邻的皮质发育不良。主要有三种组织形式。简单形只包含SGNE。复杂形包含SGNE和胶质结节、多结节架构及局灶性皮质发育不良。非特异形有类似的影像学特征但没有SGNE。仅见数例恶变报道，认为与颞叶外生长相关。

Imaging features 影像特征

• Most commonly located in the temporal lobe (lateral, medial and amygdala/hippocampus complex). Can also be found in the frontal lobe, caudate, and cerebellum.

• Pseudocysts with “bubbly appearance” are characteristic. The fluid collections lack epithelial or membranous linings. They are hypointense on T1, hyperintense on T2, and mixed signal on FLAIR. They vary in size from 1 mm to 5 cm.

• Surrounding noncystic tissue usually has hypo- or isointense signal on T1 and hyperintense signal on T2 and FLAIR.

• There is contrast enhancement in 20% to 30% of cases, which is usually nodular or ring-like in the periphery of the cysts.

• There is no restricted diffusion on diffusion-weighted imaging (DWI).

• Calcification has been seen in approximately 10% of cases.

• 常发生于颞叶（外侧、内侧及杏仁核/海马复合体），也可发生于额叶、尾状核及小脑。

• 泡沫样假囊肿为其特征。液性结构缺乏上皮或膜衬里。表现为T1低信号、T2高信号，FLAIR混杂信号。大小从1毫米到5厘米。

• 周边的非囊性成分T1上为等或低信号、T2及FLAIR为高信号。

• 约20%到30%的病例可见强化，常为囊肿周边结节样或环样强化。

• DWI序列无弥散受限。

• 约10%病例可见钙化。

Clinical presentation and treatment 临床表现及治疗

Children and young adults with DNETs typically present with longstanding, treatment-resistant partial seizures. Patients can also present with progressive neurological deficits, such as sensory deficits, behavioral disorders, or intellectual disability. DNETs arising in the cerebellum can present with ataxia. These lesions are very slow-growing but require surgical resection to treat epilepsy. They have been shown to account for approximately 15% of surgical epilepsy tumors. Surgery is associated with a very good prognosis and low recurrence.

儿童及年轻成人DNETs典型症状为持续性、难治性、部分性癫痫。病人常表现为进行性神经功能缺陷，如：感觉障碍、行为失常或智力残疾。发生于小脑的DNETs可表现为共济失调。病变进展缓慢但需要手术切除以治疗癫痫。大约占到癫痫外科手术切除病例的15％。手术预后良好、复发率低。

References

1. Borja MJ, Plaza MJ, Altman N, Gaurav S. Conventional and advanced features of pediatric intracranial tumors. AJR Am J Roentgenol. 2013;200(5):483-503.

2. Campos AR, Clusmann H, von Lehe M, et al. Simple and complex dysembryoplastic neuroepithelial tumors (DNT) variants: Clinical profile, MRI, and histopathology. Neuroradiology. 2009;51(7):433-443.

3. Fernandez C, Girard N, Paz Paredes A, Bouvier-Labit C, Lena G, Figarella-Branger D. The usefulness of MR imaging in the diagnosis of dysembryoplastic neuroepithelial tumor in children: A study of 14 cases. AJNR Am J Neuroradiol. 2003;24(5):829-834.

4. Moazzam AA, Wagle N, Shiroishi MS. Malignant transformation of DNETs: a case report and literature review. Neuroreport. 2014;25(12):894-899.

5. Thom M, Toma A, An S, et al. One hundred and one dysembryoplastic neuroepithelial tumors: an adult epilepsy series with immunohistochemical, molecular genetic, and clinical correlations and a review of the literature. J Neuropathol Exp Neurol. 2011;70(10):859-878.