Central nervous system Erdheim Chester disease presenting with raised intracranial pressure and cerebellar signs mimicking neurosarcoidosis with secondary cerebral venous thrombosis

摘要

A 5-year-old boy presented with a two-day history of involuntary tongue movements. This was associated with mild dysarthtria and swallowing difficulties. Clinical examination revealed EPC of the tongue and bifacial jerks [Video 1], Magnetic resonance imaging (MRI) of brain and EEG were normal. Cerebrospinal fluid (CSF) done on the third day of illness was normal. The EPC did not respond to parenteral lorazepam, phenytoin, or levetiracetam. Meanwhile, he developed intermittent drooling and swallowing difficulties. Considering the possibility of viral encephalitis, the child was given acyclovir injection empirically. Repeat MRI after 5 days showed hyperintense lesions in frontal operculum bilaterally [Figure la-c], and EEG showed nonspecific slowing [Figure Id]. A repeat CSF study showed 15 lymphocytes per ml, protein of 45 mg/ dL, and normal glucose. Herpes simplex virus (HSV) DNA detection in the CSF by polymerase chain reaction (PCR) was positive. The child was continued on acyclovir treatment. EPC stopped after 3 weeks of illness. He recovered well without any neurological deficit.