Histopathology of an iliac aneurysm in a case of Menkes disease

Pediatr Dev Pathol. 2010 May-Jun;13(3):247-51. doi: 10.2350/08-08-0516.1.

Abstract

In Menkes disease, arterial tortuosity is frequent, whereas true aneurysms are rare. Here, we report aneurysmal pathology occurring in an infant with Menkes disease. An iliac aneurysm was diagnosed in a 2-month-old boy and attributed to Menkes syndrome on the basis of plasma copper deficiency. Samples of the aneurysmal wall were taken during surgery for histopathological analysis. As in other forms of aneurysm, the arterial wall was characterized by smooth muscle cell (SMC) disappearance, linked to SMC apoptosis and oxidative stress, areas of mucoid degeneration, and extracellular matrix breakdown, including disappearance of elastic fibers and presence of abnormal collagen.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ceruloplasmin / analysis
  • Copper / blood
  • Endoscopy
  • Humans
  • Iliac Aneurysm / blood
  • Iliac Aneurysm / complications
  • Iliac Aneurysm / pathology*
  • Iliac Aneurysm / surgery
  • Infant
  • Male
  • Menkes Kinky Hair Syndrome / blood
  • Menkes Kinky Hair Syndrome / complications
  • Menkes Kinky Hair Syndrome / pathology*
  • Treatment Outcome
  • Vascular Surgical Procedures

Substances

  • Copper
  • Ceruloplasmin