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

作者：Ding Xiao Qi^*; Hagel Christian; Ringelstein E Bernd; Buchheit Stefan; Zeumer Hermann; Kuhlenbaeumer Gregor; Appenzeller Silke; Fiehler Jens

来源：Journal of Neuroimaging, 2010, 20(2): 134-140.

DOI：10.1111/j.1552-6569.2008.00336.x

• Microangiopathy
• autosomal dominant
• magnetic resonance imaging
• CADASIL
• PADMAL
• NOTCH3
• vascular dementia

BACKGROUND AND PURPOSE
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.
METHODS
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.
RESULTS
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.
CONCLUSION
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.

• 出版日期2010-4