title: Histopathology of an iliac aneurysm in a case of Menkes disease.
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.
authors.affiliation: INSERM U698, CHU X. Bichat, Paris, France.
authors.forename: Luciano
authors.initials: L
authors.lastname: de Figueiredo Borges
authors.forename: Helene
authors.initials: H
authors.lastname: Martelli
authors.forename: Monique
authors.initials: M
authors.lastname: Fabre
authors.forename: Ziad
authors.initials: Z
authors.lastname: Touat
authors.forename: Guillaume
authors.initials: G
authors.lastname: Jondeau
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Michel
mesh_terms: D002570:Ceruloplasmin / Q000032:analysis; D003300:Copper / Q000097:blood; D004724:Endoscopy; D006801:Humans; D017543:Iliac Aneurysm / Q000097:blood / Q000150:complications / Q000473:pathology* / Q000601:surgery; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000097:blood / Q000150:complications / Q000473:pathology*; D016896:Treatment Outcome; D014656:Vascular Surgical Procedures
chemical_list: D003300:Copper; D002570:Ceruloplasmin