Dilative Arteriopathy and Leucencephalopathy as Manifestations of a Neurometabolic Disease

Abstract

Background: Dilative arteriopathy plus leucencephalopathy as a manifestation of a mitochondrial disorder (MID) is rare.

Case report: In a 70yo Caucasian female, height 160cm, weight 62kg, with mild right-sided hemiparesis due to subacute ischemic stroke in the posterior leg of the left internal capsule, a megadolichobasilar artery and marked leucencephalopathy and gliosis of the pons were detected. In addition, microbleeds in a peripheral distribution at the cortical/subcortical border were noted. After the exclusion of various differentials, which could have explained her abnormalities, a MID was suspected.

Conclusions: Dilative arteriopathy of the intra-cerebral arteries, in association with recurrent stroke and supra- and infratentorial leucencephalopathy, but the absence of neurofibromatosis or increased low-density lipoprotein values, is most likely attributable to a non-syndromic MID.

Keywords: Mitochondrial disorder; arteriopathy; dilative arteriopathy; genetics; megadolichobasilar artery; stroke.

Fig. (1)

Cerebral imaging of the described patient. Ektasia of the basilary artery (upper left). Periventricular ischemic stroke in the territory of the left median cerebral artery (lower left). Supratentorial leucencephalopathy (upper right). Leucencephalopathy of the pons (lower right).