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Published on: May 29, 2021
MRI features of pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL)
Xiao-Qi Ding1, Christian Hagel, E Bernd Ringelstein
1Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, University of Hamburg, Germany. Ding.Xiaoqi@mh-hannover.de
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.
Insights
This study identifies a unique pattern of brain lesions in an inherited microangiopathy, distinct from CADASIL. The findings aid in diagnosing this rare cerebrovascular disease.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Cerebral small vessel disease (CSVD) is gaining attention in aging populations.
- Autosomal dominant inherited microangiopathies represent a significant area of research.
- Magnetic resonance imaging (MRI) is crucial for characterizing cerebrovascular diseases.
Purpose of the Study:
- To describe the MRI characteristics of a newly identified autosomal dominantly inherited microangiopathy.
- To differentiate this condition from other known small vessel diseases.
- To establish diagnostic criteria based on imaging findings.
Main Methods:
- Eighteen members of a German family underwent standardized MRI for cerebrovascular diseases.
- Two neuroradiologists independently evaluated all MRI scans.
- Retrospective analysis of five brain autopsies confirmed pathological findings.
Main Results:
- Six family members exhibited pathological MRI findings, including pontine lacunar infarcts and white matter lesions.
- Temporal lobe lesions and cerebral microbleeds were infrequent.
- MR angiography showed no signs of atherosclerosis; autopsy confirmed pons involvement.
Conclusions:
- The described cerebral autosomal dominant arteriopathy with pontine infarcts and leukoencephalopathy presents a unique lesion pattern.
- This pattern is distinctly different from Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
- The specific MRI characteristics, particularly pontine lesions, suggest a novel nosological entity aiding differential diagnosis.
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