Antenatal diagnosis of idiopathic infantile arterial calcification (IIAC): a single centre experience and review of the literature

• DOI: 10.1186/s40949-018-0022-1
• Publication Date: 2019-01-23T15:31:20Z
• Authors: C. H. Mulcahy; F. Mone; F. M. McAuliffe; E. Mooney; P. McParland; C. J. Mc Mahon
• Keywords: Etiology; Prenatal ultrasound

Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disorder characterised by extensive and proliferation of the intimal layer large medium size arteries. We report 4 antenatal cases IIAC in our institution over 10 year period from 2006 to 2016. Clinical outcomes, prenatal ultrasound findings, radiological postmortem investigations are summarized. A literature review this disease presented. The possible aetiology condition role biphosphonates management discussed. This case series highlights frequent poor outcome IIAC, consistent with literature, phenotypical variability even within same family one prenatally diagnosed case. Hyperechogenicity fetal vasculature detected on particularly if there history an index pregnancy may aid earlier diagnosis. multidisciplinary approach parental counselling can then occur order optimise plan care neonatal period.