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MRI Features of Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy (PADMAL)
Author(s) -
Ding XiaoQi,
Hagel Christian,
Ringelstein E. Bernd,
Buchheit Stefan,
Zeumer Hermann,
Kuhlenbäumer Gregor,
Appenzeller Silke,
Fiehler Jens
Publication year - 2010
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/j.1552-6569.2008.00336.x
Subject(s) - cadasil , medicine , leukoencephalopathy , microangiopathy , pons , pathology , hyperintensity , magnetic resonance imaging , differential diagnosis , pathological , radiology , anatomy , diabetes mellitus , endocrinology
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.