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.