A rare case of simple hereditary recessive optic atrophy

As our patient had no previous history of MS, it was difficult to differentiate it from other varieties of malignant demyelinating diseases especially ADEM. However, historical data, CSF analysis and radiographic characteristics of lesions suggested fulminant MS (table 2) (20) . Radiological images were almost diagnostic of tumefactive demyelinating process based on size (2cm or more), location (periventricular and juxtacortical) and nature of lesions (confluent areas, mixed T2 weighted iso and hyperintensity of enhanced regions, absence of cortical involvement and absence of a mass effect) (14,15,21,22) The lesions can be multifocal (83%) (as in our case) or unifocal (17%) (13) CSF analysis in our patient revealed absence of pleocytosis with elevated protein and presence of oligoclonal bands which is present in 11% to 33% of tumefactive MS cases, (13) favouring our diagnosis of tumefactive MS over ADEM. (23) Biopsy of the lesions is not routinely recommended to make a histological diagnosis. Standard treatment approach for fulminant MS variants is similar to severe relapses of MS. However, due to the rarity and high mortality associated with Marburg variant of MS, only a limited number of case reports have shown some promising results for Plasma exchange and Mitoxantrone as treatment for acute phase and prevention of further relapses (4,5,24) There is one published study of Fulminant MS from Pakistan also from our centre where patients were treated with IV immunoglobulins followed by Mitoxantrone, with good outcomes (22) .