Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency

Stroke-like episodes, defined as periods of acute localized neurological dy sfunction during which brain imagery suggests cerebral ischemia but vascula r anatomy is normal, occurred in 3 patients with autosomal recessive Saguen ay-Lac St-Jean (SLSJ) cytochrome oxidase (COX) deficiency. The patients dev eloped focal neurological deterioration and frontal hypodensities on cerebr al computerized tomography (CT). Arteriography, performed in 1 patient duri ng an acute episode, showed normal vascular anatomy. Nevertheless, capillar y shunting was evident both in regions that appeared abnormal on the initia l cerebral CT study and in regions that appeared normal but subsequently de veloped Leigh disease. Stroke-like episodes did not exacerbate systemic aci dosis, and acidotic decompensations occurred independently of stroke-like e pisodes. In conclusion, stroke-like episodes occur in autosomal recessively inherited congenital lactic acidoses as well as in those caused by mitocho ndrial DNA mutations. In some cases, acute localized neurovascular changes occur in regions that subsequently develop Leigh disease.