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

Journal Title: Journal of Advances in Medicine and Medical Research - Year 2014, Vol 4, Issue 36

Abstract

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.

Authors and Affiliations

Alberto Gajofatto, Francesca Gobbin, Silvio Piffer, Stefano Forlivesi, Flavio Fenzi, Alessandro Barbieri, Claudio Lunardi, Salvatore Monaco, Maria Donata Benedetti

Keywords

Related Articles

Evaluating Markers of Oxidative Stress in Managing Gestational Diabetes Mellitus: A Cross Sectional Study in Iraq

Aims: The objective of the present study was to evaluate the association of oxidative stress markers and antioxidants in gestational diabetes when compared to non-diabetic pregnant women. Methodology: This is a cross-se...

Exploring Medicine Information Needs of Hypertensive Patients Using Short Message Service

Aims: To explore the pattern of unmet medicine information needs of hypertensive patients on long term therapy and their attitude to use of SMS (mobile phone short message service) for medicine information exchange with...

Reflective Learning Experience in Primary Care Medicine Posting: A Potential Qualitative Study

Purpose: The purpose of this study is to determine the effects of reflection on learning during family medicine posting, to introduce a reflective writing exercise into an undergraduate medical curriculum, including thei...

Unusual Case of Acute Flaccid Quadriparesis in South India

Aim: We report an extremely unusual case of thyrotoxicosis presenting as recurrent acute flaccid quadriparesis in a south Indian male. This case is reported to disseminate knowledge about this rare presentation of thyrot...

Histological Study on the Anterior Pituitary Gland of Monosodium Glutamate-Administered Adult Male Wistar Rats

The routine use of Monosodium glutamate (MSG) as a food additive found in commercial food products has being generating controversy regarding its health effects. This study investigated the effects of MSG administration...

Download PDF file
  • EP ID EP348619
  • DOI 10.9734/BJMMR/2014/12662
  • Views 97
  • Downloads 0

How To Cite

Alberto Gajofatto, Francesca Gobbin, Silvio Piffer, Stefano Forlivesi, Flavio Fenzi, Alessandro Barbieri, Claudio Lunardi, Salvatore Monaco, Maria Donata Benedetti (2014). Two Sisters with Leukoencephalopathy, Hearing Loss and Retinopathy: A Familial Case of Susac's Syndrome?. Journal of Advances in Medicine and Medical Research, 4(36), 5818-5824. https://www.europub.co.uk/articles/-A-348619