Cytology of cerebrospinal fluid in CNS Whipple disease

Excerpt

A 50-year-old highly educated manager was admitted to the Department of Neurology UHC Zagreb due to a 2-year history of slowly progressive unsteadiness, excessive fatigue, insomnia and blurring of vision. He was transferred from the department of gastroenterology where he was investigated for abdominal pain and weight loss lasting for several months. Formal neurological and neurocognitive assessment revealed truncal ataxia, psychomotor slowing, decreased cognitive flexibility, verbal perseverations, and deficits in visuospatial organization with Mini-Mental State Exam (MMSE) score of 25/30 [1]. The results of all performed tests (CBC, renal, hepatic and thyroid function tests, vitamin B12, folic acid, immunology screening, serum and CSF antibodies to syphilis, Borrelia burgdorferi, tumor markers, hepatitis B and C, HIV, routine CSF analysis), chest X-ray, visual evoked potentials, EEG, and ECG were unremarkable. Brain MRI revealed a few small subcortical lesions in both superior frontal gyri. Ophthalmological examination revealed bilateral uveitis. Small bowel biopsy revealed expanded villi containing clusters of diastase-resistant periodic acid–Schiff (PAS)-positive, Ziehl–Neelsen negative macrophages in the lamina propria (Figs. 1, 2). Centrifuged CSF cytology revealed histiocytes with intracytoplasmic granules positive to PAS staining (Fig. 3). He was started treatment with ceftriaxone (4 g/day for a month) followed by trimethoprim–sulfamethoxazole (320/1600 mg/day scheduled for a year). He was scheduled for a follow-up visit, but died of heart attack 2 weeks after discharge from the hospital.

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