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British Journal of Medicine and Medical Research, ISSN: 2231-0614,Vol.: 4, Issue.: 36 (21-31 December)

Case Study

Two Sisters with Leukoencephalopathy, Hearing Loss and Retinopathy: A Familial Case of Susac's Syndrome?

 

Alberto Gajofatto1,2*, Francesca Gobbin1,2, Silvio Piffer1,2, Francesca Calabria1,2, Stefano Forlivesi1,2, Flavio Fenzi1,2, Alessandro Barbieri3, Claudio Lunardi3, Salvatore Monaco1,2 and Maria Donata Benedetti2

1Department of Neurological and Motor Sciences, University of Verona, Italy.
2Neurology Unit, Policlinico G. Rossi, University Hospital Integrated Verona, Italy.
3Department of Medicine, University of Verona, Italy.

Article Information

Editor(s):

(1) Dr. Costas Fourtounas, Faculty of Medicine, School of Health Sciences, University of Thessaly, Greece.

Reviewers:

(1) Anonymous

(2) Anonymous

(3) Nasrollah Maleki, Ardabil University of Medical Sciences, Iran.

Complete Peer review History: http://www.sciencedomain.org/review-history/5823

Abstracts

Aims: Susac’s syndrome is a rare clinical entity characterized by encephalopathy, sensorineural hearing loss and retinopathy caused by immune-mediated arteriole occlusion in the brain, retina and inner ear. No familial cases have been reported. We describe here the cases of two sisters who were seen at our Department for subacute neurological symptoms suggestive of a multifocal central nervous system disorder associated to hearing impairment and clinical or subclinical involvement of visual function.
Presentation of Cases: The first case presented with a two-years history of progressive paraparesis, gait ataxia and cognitive dysfunction started at age 46; she also suffered from epileptic seizures since childhood and bilateral visual loss occurred between age 37 and 38. Her sister, aged 44, had a long-standing history of headache followed by sudden-onset bilateral hearing loss at age 35, which did not recover, and an acute episode of right-sided face paresthesias nine years later. Brain MRI showed multiple T2-hyperintense supratentorial lesions involving the corpus callosum in both sisters, with “snowball” appearance in the older one. Serum anti-endothelial cell antibodies assay was positive in the youngest patient.
Discussion and Conclusion: After exclusion of other possible options, a diagnosis of Susac's syndrome looked probable for both sisters. Further studies investigating the pathogenesis and the genetic background of the disease are needed.

Keywords :

Susac's syndrome; familial cases; differential diagnosis; anti-endothelial cell antibodies.

Full Article - PDF    Page 5818-5824

DOI : 10.9734/BJMMR/2014/12662

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