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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.

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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

References

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