Fatal worsening of late-onset cerebellar ataxia with neuronal intranuclear inclusions due to superimposed meningeal Rosai-Dorfman disease.

摘要

A 53-year-old woman presented in 1996 with a two-year history of gait unsteadiness and dysarthria. Her past medical and family history was unremarkable. Neurological examination showed scanning dysarthria, slow horizontal ocular sac-cades, appendicular dysmetria, gait ataxia, and impaired balance. Thyroid profile, ?-cholestanol, a-tocopherol, anti-GAD, antigliadine, and antineuronal antibodies, were all negative, as was the genetic testing for spinocerebellar ataxia (SCA) 1-3, 6, 7; dentatorubro-pallidoluysian ataxia; Huntington disease; Friedreich ataxia; and X fragile syndrome. Brain MRI only showed marked cerebellar and mild brainstem atrophy. A diagnosis of idiopathic late onset cerebellar ataxia (ILOCA) was made.The symptoms slightly progressed throughout the ensuing years. In 2001, a follow-up MRI revealed a meningioma-like mass in the cerebellar tentorium. Surgery was ruled out by cess is often overlooked, since fever and other clinical or laboratory abnormalities are inconstant. Neuroimaging reveals one or more enhancing, dural-based (meningioma-like) lesions, leading in most of cases to excisional surgery. Although RDD can be nonprogressive and even self-limited, prognosis of CNS-RDD is worse than that of RDD in other locations. Pathology of RDD consists of histiocytic infiltrates with a characteristic immunohistochemical profile (S-100-positive, CDla-negative) accompanied by small lymphocytes and plasma-cells, and emperipolesis phenomenon. Differential diagnosis includes meningioma, especially the lymphoplasmocytic-rich variant, and can be complicated by the presence of fibrosis, which can overshadow emperipolesis. Immunohistochemistry for both S100 and CDla is mandatory to differentiate CNS-RDD from Langerhans cell histiocytosis, Hodgkin disease, and plasmacytoma in cases featuring CNS plasma-cell granuloma and emperipolesis.