Prenatal diagnosis of idiopathic infantile arterial calcification: A case report

Document Type : Case report

Authors

1 Resident, Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

2 Medical Student, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

3 Radiologist, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

4 Assistant Professor, Department of Obstetrics and Gynecology, Research Core on Family Support and Youth Population, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

10.22038/ijogi.2025.85904.6351

Abstract

Introduction: Idiopathic neonatal arterial calcification (IIAC) is a rare disease with an autosomal recessive inheritance pattern that results in widespread calcification in medium and large arteries and can lead to adverse outcomes. In this study, a case of a fetus with IIAC is presented.
Case presentation: A 32-year-old mother with a history of giving birth to a healthy and live baby, a record of one infant death due to cardiac problems and a history of one miscarriage referred to Ommol Banin Hospital in her fourth pregnancy with 30 weeks gestation. Ultrasound examinations revealed multiple cardiac, pulmonary, and renal problems as well as some degree of intrauterine growth restriction (IUGR) for the fetus that strongly suggested idiopathic neonatal arterial calcification (IIAC). Ultimately, due to the mother's severe preeclampsia, delivery was performed and a male infant was born with an Apgar score of 3-6 that as predicted, despite resuscitation, the infant died a few hours after birth.
Conclusion: Diagnosing this disease during pregnancy, especially during ultrasound examinations of fetal abnormalities, requires high accuracy and awareness of this rare disorder. Early and accurate diagnosis of this disease can play an important role in clinical decisions related to the continuation of pregnancy, selection of treatment methods, and assessment of the newborn's prognosis. Physician awareness of this disease and careful imaging studies can help in timely diagnosis and better management of this rare disorder, ultimately leading to improved quality of prenatal care. Also, considering this diagnosis can play an important role in counseling parents to make informed decisions about future pregnancies.

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  1. Yunfeng L, Tongyan H, Jing W, Xiaomei T. Case report: a novel genetic mutation causes idiopathic infantile arterial calcification in preterm infants. Frontiers in Genetics 2021; 12:763916.
  2. Mulcahy CH, Mone F, McAuliffe FM, Mooney E, McParland P, Mc Mahon CJ. Antenatal diagnosis of idiopathic infantile arterial calcification (IIAC): a single centre experience and review of the literature. Journal of Congenital Cardiology 2019; 3:1-6.
  3. Gowda M, Papa D, Sagili H, Subbai M. Prenatal Diagnosis of Idiopathic Infantile Arterial Calcification. Journal of Fetal Medicine 2016; 3(03):143-6.
  4. Ramirez-Suarez KI, Cohen SA, Barrera CA, Levine MA, Goldberg DJ, Otero HJ. Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy. Pediatric radiology 2022; 52(12):2329-41.
  5. Mastrolia SA, Weintraub AY, Baron J, Sciaky-Tamir Y, Koifman A, Loverro G, et al. Antenatal diagnosis of idiopathic arterial calcification: a systematic review with a report of two cases. Archives of Gynecology and Obstetrics 2015; 291:977-86.
  6. Corbacioglu Esmer A, Kalelioglu I, Omeroglu RE, Kayserili H, Gulluoglu M, Has R, et al. Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy. Journal of Clinical Ultrasound 2015; 43(1):50-4.
  7. Staretz‐Chacham O, Shukrun R, Barel O, Pode‐Shakked B, Pleniceanu O, Anikster Y, et al. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. American journal of medical genetics Part A 2019; 179(10):2112-8.
  8. Azizi N, Amiri B, Pajouhi A, Zare S, Heidari G. Frequency of Congenital Heart Diseases in Infants with Imperforate Anus and Esophageal Atresia Hospitalized in NICUs of Khorramabad Teaching Hospitals from 2016 to 2020. The Iranian Journal of Obstetrics, Gynecology and Infertility 2024; 27(8):31-8.