Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
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.


METHODS
Case report.


METHODS
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.
Department of Pediatrics, National University of Singapore, Singapore.
Stacey H K
SH
Tay
Douglas R
DR
Nordli
Eduardo
E
Bonilla
Edward
E
Null
Sara
S
Monaco
Michio
M
Hirano
Salvatore
S
DiMauro
D000293:Adolescent; D001019:Aortic Rupture / Q000209:etiology*; D017809:Fatal Outcome; D005260:Female; D005774:Gastrostomy / Q000009:adverse effects; D006801:Humans; D007150:Immunohistochemistry; D017241:MELAS Syndrome / Q000150:complications* / Q000235:genetics; D009130:Muscle, Smooth / Q000201:enzymology / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length