双语病例——结节性硬化症的皮质结节

朗读老师：Aimee   上海某医院

翻译老师：朱勤勤     衢州市人民医院

审校老师：姜春雷   青岛市第九人民医院

History: A 25-year-old man with a family history of a genetic disorder (history withheld) presented with headache and blurry vision to an outside hospital, where he underwent a CT, which was normal. He subsequently sought a neurology consult. The neurologist noted scattered hypopigmented areas on the patient’s skin and ordered an MRI of the brain with and without contrast.

Five fluid-attenuated inversion-recovery (FLAIR) images and T1-weighted precontrast, T1-weighted postcontrast, and T2-weighted images are provided corresponding to the level of the third FLAIR image. Click to enlarge.

病史：25 岁男性，有家族遗传病史（病史隐瞒），因头痛和视力模糊到外院行CT 检查，结果正常。随后就诊于神经科。神经科医生发现患者皮肤散在分布的色素减退区，遂要求患者行颅脑 MRI 平扫检查。

包括：5幅FLAIR图像，T1WI、T1WI增强和T2WI对应于第三幅 FLAIR 图像水平。

indings

• MRI:

• Multiple scattered FLAIR/T2-hyperintense lesions extending from the cortex into the white matter, some of which extend toward the ventricles

• Lesions demonstrate no enhancement

Differential diagnosis

• Cortical tubers of tuberous sclerosis

• Type II focal cortical dysplasia

Diagnosis: Cortical tubers of tuberous sclerosis

多发散在分布的 FLAIR/T2 高信号病变，从皮质延伸至白质，其中一些延伸至脑室

· 病灶无强化

鉴别诊断

· 结节性硬化症的皮质结节

· II 型局灶性皮质发育不良

诊断：结节性硬化症的皮质结节

Cortical tubers of tuberous sclerosis

Pathophysiology

• Tuberous sclerosis (TS) can be sporadic or familial and is sporadic in the majority of cases.

• In the majority of sporadic cases and 50% of familial cases, the mutation is in the TSC2 gene on chromosome 16, which encodes for tuberin, a tumor suppressor gene. The remainder are related to TSC1 on chromosome 9, which encodes for hamartin, a protein that inhibits the chaperone function of a heat shock protein.

• Cortical tubers are hamartomas that extend from the cortex into the white matter.

Epidemiology

• TS is most common in young children. Incidence is approximately one per 10,000 births.

• The vast majority have brain involvement; up to 90% have cortical tubers.

Clinical presentation

• Seizures

• Intellectual disability

• Neuropsychiatric behavioral disturbances

结节性硬化症的皮质结节

病理生理学

· 结节性硬化症(TS) 可以散发，也可以是家族性的，并且在大多数情况下是散发的。

· 在大多数散发病例和 50% 的家族性病例中，突变发生在 16 号染色体上的 TSC2 基因中，是一种肿瘤抑制基因，该基因编码结节蛋白。其余病例与 9 号染色体上的 TSC1 基因相关，编码抑制热休克蛋白伴侣功能的错构瘤蛋白。

· 皮质结节是从皮质延伸到白质的错构瘤。

流行病学

· TS 最常见于幼儿。发病率约为1/ 10,000。

· 绝大多数累及大脑；高达 90% 有皮质结节。

Imaging features

• CT: Often not visible except for rare calcifications

• MRI:

• FLAIR/T2: hyperintense cortical or subcortical lesions that may taper toward the ventricles (radial bands sign)

• T1: hypointense

• Enhancement: Possible but uncommon (3%-4%)

• Up to 90% are in the frontal lobes

Differential diagnosis

• The main differential consideration for cortical tubers is type II focal cortical dysplasia, particularly with transmantle sign.

Treatment

• In symptomatic patients with seizures, antiepileptic medications are first-line therapy.

• In cases of refractory epilepsy with evidence of a seizure focus in a tuber, the tuber is resected.

临床表现

· 癫痫发作

· 智力障碍

· 神经精神行为障碍

影像特点

· CT：除了罕见的钙化可见，皮质结节通常看不见，

MRI:

· FLAIR/T2：皮质或皮质下高信号病变，向脑室逐渐变细（放射带状征）

· T1：低信号

· 强化：可能有但不常见 (3%-4%)

· 高达 90% 位于额叶

鉴别诊断

· 皮质结节的主要鉴别诊断是II 型局灶性皮质发育不良，特别是伴有穿通征。

治疗

· 对于有症状的癫痫患者，抗癫痫药物是一线治疗。

· 在顽固性癫痫的情况下，如果有证据表明癫痫发作集中于此结节，则切除该结节。