Document Detail

Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy.
MedLine Citation:
PMID:  18204807     Owner:  NLM     Status:  MEDLINE    
Several hereditary conditions affecting cerebral, retinal and systemic microvessels have recently been described. They include CADASIL, CRV, and HERNS. We here report on a variant form of a hereditary systemic angiopathy (HSA) affecting two generations of a Caucasian family. Clinical symptoms of HSA appear in the mid-forties and are characterized by visual impairment, migraine-like headache, skin rash, epileptic seizures, progressive motor paresis and cognitive decline. Late symptoms include hepatic and renal failure. Retinal capillary microaneurysms and arteriolar tortuosity are associated with marked optic disc atrophy. Radiological hallmarks consist of multiple cerebral calcifications and tumor-like subcortical white matter lesions. Brain, peripheral nerve, muscle, kidney and colon biopsies have revealed a multi organ small vessel involvement with partly altered endothelium, perivascular inflammation and thrombotic microangiopathy. No curative therapeutic options are known for hereditary cerebral vasculopathies. The use of cyclophosphamide, azathioprine and methotrexate was of no benefit in our cases of HSA. Early diagnosis of hereditary systemic angiopathies is important in order to prevent patients from repetitive invasive diagnostic measures and to avoid the use of inappropriate and potentially harmful drugs.
D T Winkler; P Lyrer; A Probst; D Devys; T Haufschild; S Haller; N Willi; M J Mihatsch; A J Steck; M Tolnay
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Publication Detail:
Type:  Journal Article     Date:  2008-01-22
Journal Detail:
Title:  Journal of neurology     Volume:  255     ISSN:  0340-5354     ISO Abbreviation:  J. Neurol.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2008-01-25     Completed Date:  2008-05-14     Revised Date:  2009-11-03    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  77-88     Citation Subset:  IM    
Department of Neurology, University Hospital Basel, Petersgraben 4, 4031, Basel, Switzerland.
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MeSH Terms
Brain / blood supply,  pathology,  physiopathology
Calcinosis / pathology,  physiopathology
Cerebral Arterial Diseases / pathology*,  physiopathology
Cerebral Arteries / pathology,  physiopathology
Disease Progression
Early Diagnosis
Immunosuppressive Agents / therapeutic use
Kidney Diseases / pathology*,  physiopathology
Kidney Failure / pathology,  physiopathology
Liver Diseases / pathology*,  physiopathology
Liver Failure / pathology,  physiopathology
Microcirculation / pathology,  physiopathology
Middle Aged
Retinal Artery / pathology,  physiopathology
Retinal Diseases / pathology*,  physiopathology
Treatment Outcome
Vascular Diseases / pathology*,  physiopathology
Vasculitis / pathology,  physiopathology
Viscera / blood supply,  pathology,  physiopathology
Reg. No./Substance:
0/Immunosuppressive Agents

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