Purpose or Case Report: Idiopathic arterial calcification of infancy (IACI) is a rare condition, characterized by extensive depositions of hydroxyapatite in the internal elastic lamina of medium-sized and large arteries. It is usually diagnosed prenatally or in early infancy. Congenital intrahepatic portosystemic shunt is a persistent communication between the vitelline veins and sinus venosus, due to a focal absence of sinusoid formation. Infrequently they can present with signs of portal hypertension such as varices, ascites, and splenomegaly, but in most cases this feature usually indicates that the existing shunt is compensatory and not congenital.

We present a 29 week male neonate with a prenatal sonographic examination showing pericardial effusion, severe ascites and calcified cardiac outflow tract. After C section, the patient required resuscitation, intubation and abdominal drainage due to ascites in the NICU. Postnatal abdominal ultrasound confirmed abnormal calcification of the wall of the abdominal aorta, common iliac and origin of the superior mesenteric artery. Cranial ultrasound showed abnormal heterogeneous echotexture of the brain parenchyma with several linear parallel echogenicities, that may correspond to microcalcification of small caliber arteries. During the first few days of life the patient developed liver failure, severe cholestasis, coagulopathy and hypoalbuminemia. Follow up ultrasound done on day 12 showed hepatosplenomegaly, multiple hypoechoic focal liver lesions and an intrahepatic portosystemic shunt between the bifurcation of the main portal vein and the left hepatic vein. This finding was determined to be the primary cause of the ascites and progressive hepatosplenomegaly. By day 65 the portosystemic shunt had spontaneously resolved. Unfortunately the idiopathic arterial calcification had significantly progressed, despite bisphosphonate treatment. Multisystem organ failure had developed, the patient died on day 68.

DNA sequencing and high density target array analysis of ABCC6 and ENPP1 revealed no detectable mutation (anomaly most frequently related with IACI). Nevertheless, a c2320C>T transition in exon 23ENPP1 was identified. Finding been previously reported in a case of periarticular calcification.

This case illustrates two different and important pathologies that can be present in neonates. Each one has specific features and significant clinical relevance. This is a rare association as these two entities are usually seen separately.
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