MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL)

Abstract

Cerebral small vessel disease is a topic of growing interest for both the scientific community and the aging society. We report the magnetic resonance imaging (MRI) characteristics of a recently found autosomal dominantly inherited microangiopathy. Eighteen members (35 to 77 years) of a large German family underwent MR scanning with a standardized MRI protocol for cerebrovascular diseases. Images were evaluated independently by two neuroradiologists. Six family members revealed an unequivocally pathological phenotype on MRI with lacunar infarcts of the pons (6/6) and lesions of the subcortical and periventricular white matter (5/6). Lesions in the temporal lobes (1/6) and cerebral microbleeds (1/6) were uncommon. None of the patients revealed atherosclerotic changes in MR angiography. Retrospective analysis of 5 brain autopsies from previously reported patients of the same family confirmed the regular involvement of the pons. This cerebral autosomal dominant arteriopathy with pontine infarcts and leukoencephalopathy is characterized by a special lesion pattern strikingly different from CADASIL. The distinct MRI characteristics with pontine lesions and rare occurrence of temporal lesions argue for a new nosological entity and may be helpful for the differential diagnosis.