Case Report: A Novel Genetic Mutation Causes Idiopathic Infantile Arterial Calcification in Preterm Infants

Idiopathic infantile arterial calcification (IIAC), also known as generalized arterial calcification of infancy (GACI), is a heritable ectopic mineralization disorder that results in diffuse arterial calcifications and or stenosis, which are attributed to mutations in the ENPP1 gene. In this case study, we report the development of IIAC in a 2-month-old male preterm infant. The patient presented with severe hypertension and seizures, which revealed diffused calcifications and c.130C > T and c.1112A > T mutations in the ENPP1 gene. With biphosphonate, antihypertensive, and control epilepsy therapy, his blood pressure was maintained at 110–120/50–60 mmHg. Intellectual motor development retardation was anticipated in this patient. To the best of our knowledge, this is the first case in which a novel c.130C > T mutation in the ENPP1 gene has been identified, and the administration of bisphosphonates to patients with IIAC has been assessed.

Prenatal ultrasound diagnosis of idiopathic infantile arterial calcification in early gestation

Seven cases of prenatal ultrasound diagnosis of idiopathic infantile arterial calcification in early gestation are presented. During ultrasound examination of the fetal heart in all cases was determined echogenic interventricular septum. Almost all cases have pregnancy terminated because of unfavourable prognosis. On only one occasion the baby died after 5 days after birth. The literature data on early prenatal ultrasound diagnosis of idiopathic infantile arterial calcification and features of detection this pathology were analysed.

Intra-arterial calcifications in the recipient twin in twin-to-twin transfusion syndrome

Pulmonary artery, and rarely aortic, calcifications have been reported in sporadic case reports in the recipient twin of twin-to-twin transfusion syndrome. This presentation is more likely to be secondary to the haemodynamic alterations in the recipient twin, but must be differentiated from idiopathic infantile arterial calcification as the clinical implications, treatment, and prognosis may be drastically different.