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February 2006

Aortic Rupture in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Author Affiliations

Author Affiliations: Department of Pediatrics, National University of Singapore, Singapore (Dr Tay); Departments of Neurology and Pediatrics, Children's Memorial Hospital, Chicago, Ill (Dr Nordli); Departments of Neurology (Drs Bonilla, Hirano, and DiMauro) and Pathology (Drs Bonilla and Monaco), Columbia University Medical Center, New York, NY; and Department of Pathology, OSF St Francis Medical Center, Peoria, Ill (Dr Null).

Arch Neurol. 2006;63(2):281-283. doi:10.1001/archneur.63.2.281

Background  Microangiopathy has been well described in the brain and muscle of patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Objective  To describe a patient with the common A3243G/MELAS point mutation who had aortic rupture and whose mother also died of large vessel rupture.

Design  Case report.

Setting  Collaboration between a primary care hospital and 2 academic tertiary care hospitals.

Results  Histologically, there was marked disarray of the smooth muscle architecture of the aorta, and immunohistochemical staining with antibodies against the mitochondrial DNA–encoded cytochrome-C oxidase I subunit showed uniformly decreased immunostaining of the endothelial and smooth muscle cells of the aorta and vasa vasorum. Polymerase chain reaction and restriction fragment length polymorphism analysis showed that the mutation load was 40.5% in blood but 85.3% in the blood vessels.

Conclusions  The severe vasculopathy in this patient is probably directly related to the high mutation load in the blood vessels. Although aortic rupture is an unusual manifestation of MELAS, it is an important potential complication in patients undergoing minor surgical procedures.