Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Dec 23:12:763916.
doi: 10.3389/fgene.2021.763916. eCollection 2021.

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

Liu Yunfeng  1 , Han Tongyan  1 , Wang Jing  1 , Tong Xiaomei  1
Affiliations
Case Reports

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

Liu Yunfeng et al. Front Genet. .

Abstract

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.

Keywords: artery; calcification; case; genetic mutation; hypertensive; infant; preterm; report.

PubMed Disclaimer

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Enhanced contrast CT scan of the abdomen shows calcification of the abdominal aorta and its branches.
FIGURE 2
FIGURE 2
Vascular ultrasound images. (A) Strong echo in the aortic arch and its branches is indicated by the arrows. (B) Strong echo in the left coronary artery wall is indicated by the arrows. (C) Strong echo in the abdominal aortic wall is indicated by the arrows. (D) Strong echo in the femoral artery wall is indicated by the arrows.
FIGURE 3
FIGURE 3
A) Cranial MRI showing bilateral frontal and temporal lobe atrophy and abnormally high signal in the white matter around the anterior horn of the ventricle. The lesions are indicated by arrows. (B) Cerebrovascular artery MRI showing multiple luminal stenoses of the bilateral anterior, middle, and posterior cerebral arteries and vertebral arteries. The lesions are indicated by arrows.
FIGURE 4
FIGURE 4
Sanger sequencing of ENPP1 in the parents and the patient. The c.130C > T, c.1112A > T locus mutations were detected in the gene. The ENPP1 gene was inherited from both parents with heterozygous c. 130 C > T and c. 1112A > T compound heterozygous mutations. The mutation sites are indicated by the arrows.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Albright R. A., Stabach P., Cao W., Kavanagh D., Mullen I., Braddock A. A., et al. (2015). ENPP1-Fc Prevents Mortality and Vascular Calcifications in Rodent Model of Generalized Arterial Calcification of Infancy. Nat. Commun. 6, 10006. 10.1038/ncomms10006 - DOI - PMC - PubMed
    1. Bolster F., Ali Z., Southall P., Fowler D. (2015). Generalized Arterial Calcification of Infancy-Findings at Post-mortem Computed Tomography and Autopsy. Forensic Sci. Int. 254, e7–e12. 10.1016/j.forsciint.2015.06.017 - DOI - PubMed
    1. Borromini A., Rossi G., Maggi P., Speciale D., Mirri G., Cogliardi A., et al. (2016). Molecular Biology as a Diagnostic Tool in the Newborn Emergency Department: A Rare Case of Idiopathic Infantile Arterial Calcification. G Ital. Cardiol. (Rome) 17 (3), 234–236. 10.1714/2190.23670 - DOI - PubMed
    1. Bryant J. H., White W. A. (1901). A Case of Calcification of the Arteries and Obliterative Endarteritis Associated with Hydronephrosis in a Child Aged 6 Months. Guys Hosp. Rep. 55, 17–28.
    1. Cansu A., Ahmetoglu A., Mutlu M., Guven S., Osmanagaoglu M. A. (2010). Idiopathic Infantile Arterial Calcification: Prenatal Diagnosis and Postnatal Presentation. Clin. Exp. Obstet. Gynecol. 37 (1), 73–75. - PubMed

Publication types