Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

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...

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Bibliographic Details
Published in:Journal of neurology 2008, Vol.255 (1), p.77-88
Main Authors: Winkler, D. T., Lyrer, P., Probst, A., Devys, D., Haufschild, T., Haller, S., Willi, N., Mihatsch, M. J., Steck, A. J., Tolnay, M.
Format: Article
Language:English
Subjects:
Adult
Age
Aged
Biological and medical sciences
Brain - blood supply
Brain - pathology
Brain - physiopathology
Calcification
Calcinosis - pathology
Calcinosis - physiopathology
Cerebral Arterial Diseases - pathology
Cerebral Arterial Diseases - physiopathology
Cerebral Arteries - pathology
Cerebral Arteries - physiopathology
Convulsions & seizures
Disease
Disease Progression
Early Diagnosis
Epilepsy
Female
Humans
Immunosuppressive Agents - therapeutic use
Kidney Diseases - pathology
Kidney Diseases - physiopathology
Life Sciences
Liver Diseases - pathology
Liver Diseases - physiopathology
Liver Failure - pathology
Liver Failure - physiopathology
Male
Medical sciences
Medicine
Medicine & Public Health
Microcirculation - pathology
Microcirculation - physiopathology
Middle Aged
Migraine
Neurology
Neurons and Cognition
Neuroradiology
Neurosciences
Original Communication
Paresis
Pathology
Patients
Renal Insufficiency - pathology
Renal Insufficiency - physiopathology
Retinal Artery - pathology
Retinal Artery - physiopathology
Retinal Diseases - pathology
Retinal Diseases - physiopathology
Syndrome
Treatment Outcome
Vascular Diseases - pathology
Vascular Diseases - physiopathology
Vascular diseases and vascular malformations of the nervous system
Vasculitis - pathology
Vasculitis - physiopathology
Viscera - blood supply
Viscera - pathology
Viscera - physiopathology
Visual impairment
White people
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Description
Summary: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, migrainelike 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.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-008-0675-3