A rare presentation of atypical demyelination: tumefactive multiple sclerosis causing Gerstmann's syndrome

作者：Gnanapavan Sharmilee; Jaunmuktane Zane; Baruteau Kelly Pegoretti; Gnanasambandam Sakthivel; Schmierer Klaus^*

来源：BMC Neurology, 2014, 14(1): 68.

DOI：10.1186/1471-2377-14-68

• Gerstmann's syndrome
• Tumefactive MS
• Demyelination
• Aphasia
• Agnosia
• Left-right disorientation
• Dyscalculia
• Natalizumab

Background: Tumefactive demyelinating lesions are a rare manifestation of multiple sclerosis (MS). Differential diagnosis of such space occupying lesions may not be straightforward and sometimes necessitate brain biopsy. Impaired cognition is the second most common clinical manifestation of tumefactive MS; however complex cognitive syndromes are unusual.
Case presentation: We report the case of a 30 year old woman who presented with Gerstmann's syndrome. MRI revealed a large heterogeneous contrast enhancing lesion in the left cerebral hemisphere. Intravenous corticosteroids did not stop disease progression. A tumour or cerebral lymphoma was suspected, however brain biopsy confirmed inflammatory demyelination. Following diagnosis of tumefactive MS treatment with natalizumab effectively suppressed disease activity.
Conclusions: The case highlights the need for clinicians, radiologists and surgeons to appreciate the heterogeneous presentation of tumefactive MS. Early brain biopsy facilitates rapid diagnosis and management. Treatment with natalizumab may be useful in cases of tumefactive demyelination where additional evidence supports a diagnosis of relapsing MS.

• 出版日期2014-4-2