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A Rare Case of Homocysteinemia Presenting With Multiple Aneurysms in an Adolescent Boy

Ali Hamza1, Anum Arif2, Ahsin Manzoor Bhatti2

  • 1Internal Medicine, Combined Military Hospital, Lahore, PAK.

Cureus
|October 18, 2021
PubMed

Insights

Thoracic aortic aneurysms are rare in children but can be fatal. This case highlights a rare pediatric presentation of thoracoabdominal aortic aneurysm (TAAA) type IV, linked to homocysteinemia.

Area of Science:

  • Cardiovascular Medicine
  • Pediatric Cardiology
  • Medical Genetics

Background:

  • Thoracoabdominal aortic aneurysm (TAAA) is a rare condition in children, often leading to misdiagnosis.
  • TAAA is a significant cause of mortality in the elderly, with a higher incidence in males.
  • Limited data exists on the prevalence and specific causes of aortic aneurysms in pediatric populations.

Observation:

  • A case study of an adolescent male presenting with complex cardiovascular issues.
  • The patient exhibited a left coronary artery aneurysm, left axillary artery aneurysm, and TAAA type IV.
  • These vascular abnormalities were attributed to the metabolic disorder homocysteinemia.

Findings:

  • Homocysteinemia can manifest as severe, multi-site arterial aneurysms in adolescents.
  • This case underscores the importance of considering metabolic disorders in pediatric aneurysm etiology.
  • The diagnostic journey involved identifying a rare combination of aneurysms in a young patient.

Implications:

  • Early diagnosis and management of homocysteinemia are crucial to prevent life-threatening aortic complications in children.
  • This case expands the understanding of TAAA in pediatric populations, emphasizing rare underlying causes.
  • Highlights the need for comprehensive screening in pediatric patients with unexplained arterial aneurysms.

Keywords:
aneurysmaortaatherosclerosispulsatilethoracoabdominal

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