|
|
|
| Imaging diagnosis of Sturge-Weber syndrome in children |
| ZHANG Yu-zhen, YIN Qiu-feng, CAI Jing, DING Ming, LIU Ming, WANG Deng-bin |
| Department of Radiology, Xinhua Hospital Affiliated to Shanghai Jiaotong University,
School of Medicine, Shanghai 200092, China |
|
|
|
|
Abstract Objective: To summarize the clinical manifestations, image characteristics and proper imaging modalities of diagnosis of Sturge-Weber syndrome(SWS), and to improve the understanding and reduce misdiagnosis of SWS. Methods: Clinical features, CT, MRI and DSA images of 44 children with SWS were retrospectively reviewed. Results: Forty-four cases had ipsilateral leptomeningeal angiomatosis(12 cases were bilateral) diagnosed with CT, MRI and DSA, children presenting with seizures(n=35), ipsilateral port-wine nevus affecting the area innervated by the first and second sensory branch of the trigeminal nerve(n=33), headache(n=4), hemiparesis(n=4). CT, MRI and DSA examinations were performed in 30, 38 and 14 children respectively. One child had MR spectroscopy(MRS) and 5 children had further study of susceptibility weighted imaging(SWI). Forty-four SWS children were diagnosed with ipsilateral leptomeningeal angiomatosis after different imaging modalities and clinical manifestations. CT images showed gyriform calcifications in different regions(n=25), especially in the occipitoparietal, frontoparietal, temporoparietal or fronto-temporo-occipital regions. Ipsilateral leptomeningeal angiomatosis and abnormal veins(n=34), choroidal angioma(n=21), cerebral atrophy(n=34), and glaucoma(n=10) were shown in postcontrast MRI in 34 children. Conclusion: SWS is a rare sporadic and congenital neurocutaneous syndrome. CT is sensitive in gyriform calcifications. MRI has advantages of non-radiation and multi-planar scanning. Contrast enhanced MRI and SWI sequence should be suggested in any child presented with epilepsy and intracranial unilateral calcification, which can also be used as the preferred imaging method for the early diagnosis and follow-up study of SWS.
|
|
Received: 17 June 2019
|
|
|
|
|
|
| [1]Jagtap S, Srinivas G, Harsha KJ, et al. Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients[J]. J Child Neurol, 2013, 28(6): 725-731.
[2]Chen L, Wu J, Xu M, et al. Sturge-Weber syndrome[J]. Ann Dermatol, 2011, 23(4): 551-553.
[3]Higueros E, Roe E, Granell E, et al. Sturge-Weber syndrome: a review[J]. Actas Dermosifiliogr, 2017, 108(5): 407-417.
[4]Roach ES. Neurocutaneous syndromes[J]. Pediatr Clin North Am, 1992, 39(4): 591-620.
[5]Paresh Z, Tinkal P, Vinay S. Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus[J]. J Neurosci Rural Pract, 2015, 6(1): 105-107.
[6]Siri L, Giordano L, Accorsi P, et al. Clinical features of Sturge-Weber syndrome without facial nevus: five novel cases[J]. Eur J Pediatr Neurol, 2013, 17(1): 91-96.
[7]Sudarsanam A, Ardern-Holmes S. Sturge-Weber syndrome: from the past to the present[J]. Eur J Paediatr Neurol, 2014, 18(3): 257-266.
[8]Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ[J]. N Engl J Med, 2013, 368(21): 1971-1979.
[9]Kaseka ML, Bitton JY, Décarie JC, et al. Predictive factors for epilepsy in pediatric patients with Sturge-Weber syndrome [J]. Pediatr Neurol, 2016, 64(1): 52-58.
[10]Nozaki T, Nosaka S, Miyazaki O, et al. Syndromes associated with vascular tumors and malformations: a pictorial review[J]. Radiographics, 2013, 33(1): 175-195.
[11]Mantelli F, Bruscolini A, La Cava M, et al. Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management[J]. Clin Ophthalmol, 2016, 10: 871-878.
[12]Luat AF, Behen ME, Chugani HT, et al. Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: effect of age at seizure onset and side of brain involvement[J]. Epilepsy Behav, 2018, 80: 202-207.
[13]Pilli VK, Behen ME, Hu J, et al. Clinical and metabolic correlates of cerebral calcifications in Sturge-Weber syndrome[J]. Dev Med Child Neurol, 2017, 59(9): 952-958.
[14]Pinto AL, Chen L, Friedman R, et al. Sturge-Weber syndrome: brain magnetic resonance imaging and neuropathology findings[J]. Pediatr Neurol, 2016, 58(1): 25-30.
[15]Sijens PE, Gieteling EW, Meiners LC, et al. Diffusion tensor imaging and magnetic resonance spectroscopy of the brain in a patient with Sturge-Weber syndrome[J]. Acta Radiol, 2006, 47(9): 972-976.
[16]Juhász C, Hu J, Xuan Y, et al. Imaging increased glutamate in children with Sturge-Weber syndrome: association with epilepsy severity[J]. Epilepsy Res, 2016, 122(1): 66-72.
[17]吴洁，花放，王晓华，等. Sturge-Weber综合征的临床及影像学特点分析（附八例报道）[J]. 中华神经医学杂志，2016，15（10）：1026-1031.
[18]黄晓星，王志龙，肖学红，等. Sturge-Weber综合征临床分析及影像诊断[J]. 影像诊断与介入放射学，2015，24（1）：68-73.
[19]Comi AM. Sturge-Weber syndrome[J]. Handb Clin Neurol, 2015, 132: 157-168. |
|
|
|
