Cyclophosphamide and methotrexate in Susac’s Syndrome: a successful sequential therapy in a case with involvement of the cerebellum

Abstract

Susac's Syndrome (SS) is a rare disease with unknown aetiology due to a microangiopathy affecting the precapillary arterioles of the brain, retina, cochlea and semicircular canals. Neurological manifestations, visual dysfunction and hearing loss represent the classical clinical triad of SS. Diagnosis is confirmed by laboratory investigations, neuroimaging findings, fluoroangiography and inner-ear studies. An early treatment with steroids and immunosuppressors limits the sequelae of disease. We report a case of SS in which the clinical triad occurred in a very short period of time. Brain MRI showed the involvement of cerebellum, this representing a rare neuroradiological finding in SS. A full remission of disease was obtained by using corticosteroids and cyclophosphamide in the acute-subacute phase and methotrexate as maintenance therapy. This latter has never been used before in SS.

Multimodal Imaging in Susac Syndrome: A Case Report and Literature Review

“…Some authors reported specific alterations such as a reduction in retinal autofluorescence in the ischemic area [11]; in our case, we did not observe any specific alteration in retinal autofluorescence. Furthermore, SS is an important differential diagnosis in numerous cerebrovascular conditions, and early identification supports starting prompt treatment, reducing relapses, and improving outcomes [5]. Although FA is necessary for identification of the disease, this is a time-consuming, dye-dependent technique and does not allow users to examinate the deep capillary plexus.…”

“…Brain magnetic resonance imaging (BMRI) findings are not specific and could be suggestive of several neurological diseases. Moreover, prompt treatment including corticosteroids and immunosuppressants is required to limit complications of the disease [5]. Retinal branch artery occlusion (BRAO), vascular leakage, and arteriolar wall hyper-fluorescence (glass plaques) are the primary ophthalmic findings and are conventionally seen in FA and wide-field color fundus photography.…”

Susac syndrome with prominent dermatological findings and a prompt response to intravenous immunoglobulin, steroids, and rituximab: a case report

“…Other medications include mycophenolate mofetil, cyclophosphamide, and azathioprine. Cyclophosphamide for the acute phase of treatment followed by maintenance therapy with methotrexate or long-term therapy with mycophenolate mofetil and methotrexate have been reported to be successful in case reports [ 13 , 14 ]. The use of rituximab has occasionally been reported in more refractory disease [ 5 , 6 ].…”