Boronat Susana, Caruso Paul, Auladell Maria, Van Eeghen Agnies, Thiele Elizabeth Anne
Department of Neurology, Massachusetts General Hospital, Boston, USA; Department of Pediatric Neurology, Vall d' Hebron Hospital, Universitat Autònoma de Barcelona, Spain.
Department of Neuroradiology, Massachusetts General Hospital, Boston, USA.
Brain Dev. 2014 Oct;36(9):801-6. doi: 10.1016/j.braindev.2013.11.003. Epub 2013 Dec 8.
Some clinical findings in tuberous sclerosis complex (TSC), such as hypomelanotic macules or angiofibromas are related to problems in development of the neural crest, which is also the origin of cranial leptomeninges. Arachnoid cysts have been reported in two TSC patients to date. The purpose of this study was to assess the prevalence and characteristics of arachnoid cysts in a large cohort of TSC.
We performed a review of brain MRIs of 220 TSC patients searching for arachnoid cysts.
Arachnoid cysts were found in 12 (5.5%) (general population: 0.5%), including ten males (83.3%). Four patients (33.3%) had also autosomal dominant polycystic kidney disease (ADPKD) due to a contiguous deletion of the TSC2-PKD1 genes. Three patients (25%) had two or more arachnoid cysts, of whom two also had ADPKD. One patient with an arachnoid cyst did not have tubers, subependymal nodules or white matter migration lines.
Our study suggests that arachnoid cysts are part of the clinical spectrum of TSC and may be also present in TSC patients without other typical TSC brain lesions.
结节性硬化症（TSC）的一些临床发现，如色素减退斑或血管纤维瘤，与神经嵴发育问题有关，而神经嵴也是颅软脑膜的起源。迄今为止，已有两例TSC患者被报道患有蛛网膜囊肿。本研究的目的是评估一大群TSC患者中蛛网膜囊肿的患病率和特征。
我们对220例TSC患者的脑部MRI进行了回顾，以寻找蛛网膜囊肿。
在12例（5.5%）患者中发现了蛛网膜囊肿（普通人群：0.5%），其中男性10例（83.3%）。4例患者（33.3%）还患有常染色体显性多囊肾病（ADPKD），这是由于TSC2-PKD1基因的连续缺失所致。3例患者（25%）有两个或更多蛛网膜囊肿，其中2例也患有ADPKD。1例患有蛛网膜囊肿的患者没有结节、室管膜下结节或白质移行线。
我们的研究表明，蛛网膜囊肿是TSC临床谱的一部分，也可能出现在没有其他典型TSC脑部病变的TSC患者中。
