Ercan Tugba Erener, Oztunc Funda, Celkan Tiraje, Bor Meltem, Kizilkilic Osman, Vural Mehmet, Perk Yildiz, Islak Civan, Tuysuz Beyhan
Department of Neonatology, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.
J Child Neurol. 2013 Jan;28(1):115-9. doi: 10.1177/0883073812439346. Epub 2012 Mar 25.
Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosis of macrosomia and tetralogy of Fallot. He also had macrocephaly; a high forehead; capillary hemangioma on the forehead, upper lip, and philtrum; generalized loose skin; postaxial polydactyly of both hands and feet, with neuroimaging findings of polymicrogyria and thrombosis in sagittal sinus and sinus rectus. His condition was diagnosed as macrocephaly-capillary malformation syndrome in the neonatal period and he died suddenly during sleep at 6 months of age. The clinical course in this syndrome is not as benign as was previously thought. Careful follow-up of these patients with particular emphasis on neuroradiologic and cardiologic evaluation might help decrease the risk of sudden death and to improve long-term outcome.
巨头-毛细血管畸形综合征的特征为皮肤血管畸形并伴有巨头、巨体、半身肥大、肌张力减退、发育迟缓、关节松弛、皮肤松弛、多指（趾）畸形以及神经影像学异常等相关异常表现。我们报告一例产前诊断为巨体和法洛四联症的新生儿。他还患有巨头症；前额高；前额、上唇和人中处有毛细血管瘤；全身皮肤松弛；双手和双足均为轴后多指（趾）畸形，神经影像学检查发现多小脑回以及矢状窦和直窦血栓形成。他的病情在新生儿期被诊断为巨头-毛细血管畸形综合征，6个月大时在睡眠中突然死亡。该综合征的临床病程并不像之前认为的那样良性。对这些患者进行仔细随访，尤其着重于神经放射学和心脏学评估，可能有助于降低猝死风险并改善长期预后。
