When Arteries Harden Early: A Case of Generalized Arterial Calcification of Infancy

Generalized arterial calcification of infancy (GACI) is a rare, often fatal, autosomal recessive genetic disorder, primarily caused by mutations in the ENPP1 or ABCC6 genes. While most GACI cases are associated with ENPP1 mutations (GACI type 1), a minority are linked to ABCC6 variants (GACI type 2). We report a 30-month-old female with severe, treatment-resistant hypertension. Ultrasonography and computed tomography angiography revealed calcifications in medium- to large-caliber arteries, raising the suspicion of GACI. Next-generation sequencing identified a heterozygous nonsense mutation in exon 23 of the ABCC6 gene, confirming the diagnosis. The patient was initiated on a combination of antihypertensive medications and was later started on bisphosphonate therapy. At last follow-up, the child was clinically stable. This case highlights the importance of early radiological recognition and genetic testing in GACI.