结节性硬化症患儿早期MRI特征与后续癫痫及神经发育结局的关联
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex.
作者信息
Hulshof Hanna M, Kuijf Hugo J, Kotulska Katarzyna, Curatolo Paolo, Weschke Bernhard, Riney Kate, Krsek Pavel, Feucht Martha, Nabbout Rima, Lagae Lieven, Jansen Anna, Otte Wim M, Lequin Maarten H, Sijko Kamil, Benvenuto Arianna, Hertzberg Christoph, Benova Barbora, Scholl Theresa, De Ridder Jessie, Aronica Eleonora M A, Kwiatkowski David J, Jozwiak Sergiusz, Jurkiewicz Elzbieta, Braun Kees, Jansen Floor E
机构信息
From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands; Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland; Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy; Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany; Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia; Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic; Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria; Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France; Katholieke Universiteit (L.L., J.D.R.),* Leuven; Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium; Utrecht University (W.M.O.), the Netherlands; Transition Technologies (K.S.), Warsaw, Poland; Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience; Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands; Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA; and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland.
出版信息
Neurology. 2022 Mar 22;98(12):e1216-e1225. doi: 10.1212/WNL.0000000000200027. Epub 2022 Jan 31.
BACKGROUND AND OBJECTIVES
Multiple factors have been found to contribute to the high risk of epilepsy in infants with tuberous sclerosis complex (TSC), including evolution of EEG abnormalities, gene variant, and MRI characteristics. The aim of this prospective multicenter study was to identify early MRI biomarkers of epilepsy in infants with TSC aged <6 months and before seizure onset, and associate these MRI biomarkers with neurodevelopmental outcomes at 2 years of age. The study was part of the EPISTOP project.
METHODS
We evaluated brain MRIs performed in infants younger than 6 months with TSC. We used harmonized MRI protocols across centers and children were monitored closely with neuropsychological evaluation and serial video EEG. MRI characteristics, defined as tubers, radial migration lines, white matter abnormalities, cysts, calcifications, subependymal nodules (SEN), and subependymal giant cell astrocytoma (SEGA), were visually evaluated and lesions were detected semiautomatically. Lesion to brain volume ratios were calculated and associated with epilepsy and neurodevelopmental outcomes at 2 years.
RESULTS
Lesions were assessed on MRIs from 77 infants with TSC; 62 MRIs were sufficient for volume analysis. The presence of tubers and higher tuber-brain ratios were associated with the development of clinical seizures, independently of gene variation and preventive treatment. Furthermore, higher tuber-brain ratios were associated with lower cognitive and motor development quotients at 2 years, independently of gene variation and presence of epilepsy.
DISCUSSION
In infants with TSC, there is a significant association between characteristic TSC lesions detected on early brain MRI and development of clinical seizures, as well as neurodevelopmental outcomes in the first 2 years of life. According to our results, early brain MRI findings may guide clinical care for young children with TSC.
CLASSIFICATION OF EVIDENCE
This study provides Class I evidence that in infants with TSC, there is a significant association between characteristic TSC lesions on early brain MRI and the development of clinical seizures and neurodevelopmental outcomes in the first 2 years of life.
背景与目的
已发现多种因素导致结节性硬化症（TSC）婴儿癫痫风险高，包括脑电图异常演变、基因变异和磁共振成像（MRI）特征。这项前瞻性多中心研究的目的是识别6个月以下且癫痫发作前的TSC婴儿癫痫的早期MRI生物标志物，并将这些MRI生物标志物与2岁时的神经发育结局相关联。该研究是EPISTOP项目的一部分。
方法
我们评估了6个月以下TSC婴儿的脑部MRI。我们在各中心使用统一的MRI方案，并通过神经心理学评估和连续视频脑电图对儿童进行密切监测。对定义为结节、放射状移行线、白质异常、囊肿、钙化、室管膜下结节（SEN）和室管膜下巨细胞星形细胞瘤（SEGA）的MRI特征进行视觉评估，并半自动检测病变。计算病变与脑体积之比，并将其与2岁时的癫痫和神经发育结局相关联。
结果
对77例TSC婴儿的MRI进行了病变评估；62例MRI足以进行体积分析。结节的存在和较高的结节与脑体积之比与临床癫痫发作的发生相关，与基因变异和预防性治疗无关。此外，较高的结节与脑体积之比与2岁时较低的认知和运动发育商相关，与基因变异和癫痫的存在无关。
讨论
在TSC婴儿中，早期脑部MRI检测到的特征性TSC病变与临床癫痫发作的发生以及生命最初2年的神经发育结局之间存在显著关联。根据我们的结果，早期脑部MRI结果可能指导TSC幼儿的临床护理。
证据分类
本研究提供了I类证据，即TSC婴儿早期脑部MRI上的特征性TSC病变与生命最初2年的临床癫痫发作和神经发育结局之间存在显著关联。
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