Gopala Krishna B.A *

Department of Orthopaedics, Manipal Hospitals, Bangalore, Karnataka, India

*Corresponding Author:BA Gopala Krishna, Department of Orthopaedics, Manipal Hospitals, Bangalore, Karnataka, India.

Received: September 06, 2022; Published: November 11, 2022

Abstract

Introduction: ACDC is a rare autosomal recessive genetic disorder caused by mutation in the NT5E gene, which results in extensive calcification of vessels below the diaphragm, notably the large lower extremity arteries and small joints of hands and feet [3,4]. Also known as “calcification of joints and arteries” (CALJA) syndrome, the late-onset profound calcification spares arteries in the trunk and the coronary circulation.

Case Report: We report the case of, an 11-year-old boy, who presented with abrupt and abnormal calcific deposits at various anatomical location with pain and limitation of the movements of the involved region. The symptoms were not controlled with standard anti-inflammatory medications with other supportive measures. The symptoms were significant enough to limit his activities of daily living.

Conclusion: ACDC is a rare genetic disorder with limited knowledge to many practicing physicians and surgeons. The symptoms are debilitating depending on the anatomical region affected. Inadvertent usage of medication or intervention can lead to complications or undesired outcomes. Hence a detailed study of such cases with standard treatment recommendations are necessary. This case report shows a favourable outcome with the treatment approach that was instituted. However study of a reasonable number of similar cases can throw better light in understanding and managing such rare disorder

Keywords: Intra-arterial Calcification; NT5E Gene Mutation; ACDC; CALJA Syndrome; CD 73 Deficiency

References

1. Cudrici CD., et al. “Multifocal calcific periarthritis with distinctive clinical and radiological features in patients with CD73 deficiency”. Rheumatology (Oxford) 61.1 (2021): 163-173.
2. St Hilaire C., et al. “NT5E mutations and arterial calcifications”. The New England Journal of Medicine 5 (2011): 432-442.
3. Naomi Ichikawa., et al. “Arterial Calcification Due to Deficiency of CD73 (ACDC) As One of Rheumatic Diseases Associated with Periarticular Calcification”. Journal of Clinical Rheumatology4 (2015): 216-220.
4. Luis Balmore Gutierrez., et al. “Arterial calcification due to CD73 deficiency (ACDC): imaging manifestations of ectopic mineralization”. Skeletal Radiology 45 (2016): 1583-1587.

Citation

Citation: Gopala Krishna.B.A “Treatment of a Case of Intra-arterial Calcification of Popliteal Artery in a Young Boy”.Acta Scientific Orthopaedics 5.12 (2022): 90-92.

Copyright

Copyright: © 2022 Gopala Krishna.B.A. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.