Successful bridge to diagnosis: Extracorporeal life support in generalized arterial calcification of infancy

Abstract

Introduction

Generalized arterial calcification of infancy (GACI) is a rare, difficult to recognize, autosomal recessive disorder with high neonatal mortality due to vascular calcification and cardiopulmonary collapse.

Case Report

We report a term female presenting with persistent pulmonary hypertension requiring venoarterial extracorporeal life support within 24 h of life. Despite initial stabilization, she developed progressive neurologic deterioration. Imaging revealed diffuse vascular calcification including severe carotid involvement. GACI was suspected and later genetically confirmed.

Discussion

While ECLS effectively bridged to diagnosis, the case was complicated by extensive cerebrovascular calcification, resulting in irreversible neurologic injury. This represents the utility of ECLS as bridge to diagnosis and subsequent identification of the first case of GACI with catastrophic carotid involvement.

Conclusion

Our report highlights the role of ECLS as bridge to diagnosis in GACI and potential for characterization of previously unrecognized processes in this disease.