MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
复制标题
先天性毛细血管扩张综合征的 MRI 和神经学表现：十例报道并文献复习。
作者：
Livia Garavelli;K. Leask;C. Zanacca;S. Pedori;Giuseppe Albertini;E. D. Giustina;G. Croci;Cinzia Magnani;Giacomo Banchini;Jill Clayton;M. Bocian;H. Firth;J. A. Gold;J. Hurst
MRI和神经学的表现：10例报告和文献回顾：我们描述了10例儿童的临床病史和磁共振成像（MRI）表现与巨大头-皮肤马尔莫拉塔毛细血管扩张先天性综合征（M-CMTC- MIM 602501）。该综合征最近被描述为一般组患者与皮肤萎缩毛细血管扩张（CMTC）作为一个独特的和容易识别的实体。与大多数CMTC患儿相比，M-CMTC综合征患者存在脑积水、大脑畸形、发育迟缓和智力低下等神经系统异常的高风险。MRI扫描显示我们所有患者的大脑结构异常，包括巨脑畸形、大脑半球不对称和白质信号异常增加。7名患者还患有I型Chiari畸形。回顾所有报告的病例，我们建议对已知并发症进行适当的监测。
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.