Sturge-Weber Syndrome Type III

被引:0
作者
Tekin, Hande Gazeteci [1 ]
Gokben, Sarenur [2 ]
Yilmaz, Sanem [2 ]
Tekgul, Hasan [2 ]
Serdaroglu, Gul [2 ]
机构
[1] Cigli Reg Training Hosp, Clin Pediat Neurol, Izmir, Turkey
[2] Ege Univ, Fac Med, Dept Pediat Neurol, Izmir, Turkey
关键词
Sturge-Weber; without nevus; epilepsy; children;
D O I
10.4274/jpr.44265
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Sturge-Weber syndrome (SWS) is a neurogenetic disease with an incidence of 1 in 20.000-50.000 live births. The less common form, which can be difficult to diagnose and only involves leptomeningeal angioma, has been defined as Type III SWS. A 5.5-month-old mate patient with normal neuromotor development presented with right sided partial seizures, which had been occurring frequently for the previous two days and could not be controlled. A cranial magnetic resonance imaging showed pathological contrasts in the cortical regions involving the left hemisphere and in the leptomeningeal structures. We aim to present the case of an infant with SWS, which unlike the classical form was unidentifiable in physical examination and diagnosed using imaging methods.
引用
收藏
页码:103 / 105
页数:3
相关论文
共 10 条
[1]   MR susceptibility weighted complements conventional imaging (SWI) contrast enhanced T1 weighted MRI in characterizing brain abnormalities of Sturge-Weber Syndrome [J].
Hu, Jiani ;
Yu, Yingjian ;
Juhasz, Csaba ;
Kou, Zhifeng ;
Xuan, Yang ;
Latif, Zahid ;
Kudo, Kohsuke ;
Chugani, Harry T. ;
Haacke, E. Mark .
JOURNAL OF MAGNETIC RESONANCE IMAGING, 2008, 28 (02) :300-307
[2]   A clinician's dilemma: Sturge-Weber syndrome 'without facial nevus'!! [J].
Jagtap, Sujit A. ;
Srinivas, G. ;
Radhakrishnan, Ashalatha ;
Harsha, K. J. .
ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2013, 16 (01) :118-120
[3]  
Jordan Philip Richard, 2016, BMJ Case Rep, V2016, DOI 10.1136/bcr-2016-216842
[4]  
Korf BR, 2017, PEDIATR REV, V38, P119, DOI 10.1542/pir.2015-0118
[5]   Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography [J].
Mentzel, HJ ;
Dieckmann, A ;
Fitzek, C ;
Brandl, U ;
Reichenbach, JR ;
Kaiser, WA .
PEDIATRIC RADIOLOGY, 2005, 35 (01) :85-90
[6]   Sturge-Weber Syndrome Type III [J].
Mukherjee, Devdeep ;
Kundu, Ritabrata ;
Niyogi, Prabal Chandra .
INDIAN JOURNAL OF PEDIATRICS, 2015, 82 (01) :97-98
[7]   Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ [J].
Shirley, Matthew D. ;
Tang, Hao ;
Gallione, Carol J. ;
Baugher, Joseph D. ;
Frelin, Laurence P. ;
Cohen, Bernard ;
North, Paula E. ;
Marchuk, Douglas A. ;
Comi, Anne M. ;
Pevsner, Jonathan .
NEW ENGLAND JOURNAL OF MEDICINE, 2013, 368 (21) :1971-1979
[8]   Sturge-Weber syndrome: From the past to the present [J].
Sudarsanam, Annapurna ;
Ardern-Holmes, Simone L. .
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2014, 18 (03) :257-266
[9]   STURGE-WEBER SYNDROME - AGE-OF-ONSET OF SEIZURES AND GLAUCOMA AND THE PROGNOSIS FOR AFFECTED CHILDREN [J].
SUJANSKY, E ;
CONRADI, S .
JOURNAL OF CHILD NEUROLOGY, 1995, 10 (01) :49-58
[10]   Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus [J].
Zanzmera, Paresh ;
Patel, Tinkal ;
Shah, Vinay .
JOURNAL OF NEUROSCIENCES IN RURAL PRACTICE, 2015, 6 (01) :105-107