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Brain histopathology in three cases of Susac's syndrome: implications for lesion pathogenesis and treatment
  1. Todd A Hardy1,2,
  2. Billy O'Brien3,
  3. Natasha Gerbis4,
  4. Michael H Barnett2,5,6,
  5. Stephen W Reddel1,
  6. Janice Brewer7,
  7. Geoffrey K Herkes4,
  8. Paul Silberstein4,
  9. Roger J Garsia8,
  10. John D G Watson9,10,
  11. Ruta Gupta11,
  12. John D E Parratt4,12,
  13. Michael E Buckland5,13
  1. 1 Neuroimmunology Clinic, Concord Hospital and University of Sydney, Sydney, New South Wales, Australia
  2. 2 MS Australia Clinic, Brain & Mind Research Institute, Sydney, New South Wales, Australia
  3. 3 Department of Neurology, Gosford Hospital, Gosford, New South Wales, Australia
  4. 4 Department of Neurology, Royal North Shore Hospital, Sydney, New South Wales, Australia
  5. 5 Brain & Mind Research Institute, Sydney, New South Wales, Australia
  6. 6 Department of Neurology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  7. 7 Department of Anatomical Pathology, PaLMS, Royal North Shore Hospital, Sydney, New South Wales, Australia
  8. 8 Department of Immunology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  9. 9 Section of Neurology, Sydney Adventist Hospital, Sydney, New South Wales, Australia
  10. 10 Discipline of Medicine, Sydney Adventist Hospital Clinical School, University of Sydney, Sydney, New South Wales, Australia
  11. 11 Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital and the University of Sydney, Sydney, New South Wales, Australia
  12. 12 Department of Medicine, Institute of Clinical Neurosciences, University of Sydney, Camperdown, New South Wales, Australia
  13. 13 Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  1. Correspondence to Dr Todd A Hardy, Department of Neurology, Neuroimmunology Clinic, Concord Repatriation General Hospital, Concord, NSW 2139, Australia; thardy{at}med.usyd.edu.au

https://doi.org/10.1136/jnnp-2014-308240

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    Susac's syndrome (SS) is the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. While rare, it has become increasingly recognised since characteristic ‘snowball’ corpus callosum lesions were appreciated on MRI.1 We present clinical and histopathological findings on three patients with SS. Our findings demonstrate a T-cell-mediated inflammatory contribution to lesion pathogenesis. Treatment with the tumour necrosis factor (TNF) inhibitor, infliximab was beneficial in two patients, including in one previously reported,2 and in another who failed rituximab. This report provides a histological rationale for the observed benefit of infliximab, and suggests that infliximab should be considered as an adjunct therapy in patients with refractory SS.

    Three patients with SS most recently diagnosed among the authors’ practices who had undergone brain biopsy as part of their diagnostic clinical workup were identified. The clinical features, radiology, treatment and outcomes for the three patients are presented as online supplementary data (tables S1–S5 and figures S1 and S2). Extensive serum autoantibody screening was negative. Headache was present in all patients, highlighting the fact that it is a common manifestation of encephalopathy in SS. All three cases reported relatively non-specific auditory and visual symptoms, emphasising that fluorescein angiography±audiology testing should be considered in the diagnostic workup of patients with unexplained encephalopathy.

    Two patients underwent cerebellar biopsies and one a frontal lobe biopsy. One biopsy was from a treatment-naïve patient (case 1). All contained variable numbers of wedge-shaped microinfarcts surrounded by microglia. In cerebellar biopsies (cases 1 and 3), …

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    Footnotes

    • Contributors BO'B and JDEP conceived the idea for the article and collected the cases. TAH, BO'B, JDEP, RJG and MEB drafted the article. Pathology was reviewed by RG, JDEP and MEB. All authors revised the manuscript critically for important intellectual content, and gave final approval of the version to be published.

    • Competing interests JDEP is funded by Multiple Sclerosis Research Australia.

    • Patient consent Obtained.

    • Ethics approval Written, informed consent to publish was obtained from all patients. Use of control tissues was authorised under RPA Hospital HREC approval numbers X11/0202 & X09/0371.

    • Provenance and peer review Not commissioned; externally peer reviewed.