Arbide Del Río Nagore, Solano Iturri Jon Danel, García Barcina María, Sarasola Díez Esther
Servicio de Anatomía Patológica, Hospital Universitario Basurto, Bilbao, Vizcaya, España.
Servicio de Anatomía Patológica, Hospital Universitario Basurto, Bilbao, Vizcaya, España.
Rev Esp Patol. 2020 Jul-Sep;53(3):193-196. doi: 10.1016/j.patol.2019.02.005. Epub 2019 Apr 8.
Arterial calcification of infancy is a rare autosomal recessive genetic disorder with extremely poor prognosis characterized by extensive calcification of internal elastic lamina and thickened of intimal tissue of large and medium sized arteries.
We present the case of a newborn necropsy with hydrops and widespread cyanosis. The internal examination revealed heart enlargement due to occlusive calcification of the arteries.
The aim of the present report is to provide a correlation of clinical and pathological features. An update of genetic diagnosis is provided.
婴儿期动脉钙化是一种罕见的常染色体隐性遗传病，预后极差，其特征是内弹性膜广泛钙化以及大中型动脉内膜组织增厚。
我们报告一例新生儿尸检病例，该新生儿有水肿和广泛发绀。内部检查显示由于动脉闭塞性钙化导致心脏增大。
本报告的目的是提供临床和病理特征的相关性。提供了基因诊断的最新情况。
