title: Clinical and neuropathological variability in clinically isolated central nervous system Whipple's disease.
abstract: Central nervous system Whipple's disease (CNS-WD) with clinically isolated neurological involvement is a rare condition fatal without an early diagnosis. We aimed to present clinical and neuropathological features of three cases of pre- or post-mortem polymerase chain reaction confirmed CNS-WD with distinct clinical presentation, outcome and pathological findings. One patient had an acute onset with spinal and brainstem involvement and died without CNS-WD diagnosis after 14 weeks. Neuropathology showed extensive inflammatory and necrotizing lesions with abundant foamy periodic-acid-Schiff (PAS)+ macrophages. The second patient had a subacute evolution with late CNS-WD diagnosis and death occurring 18 months after onset despite antibiotic treatment. Brain examination showed inflammatory lesions in the brainstem, thalamus and cerebellum, and abundant foamy PAS+ macrophages. The third case was diagnosed within 4 weeks of onset and treated with an excellent response. He died after a disease-free period of 24 months of unrelated causes. Neuropathology showed cystic residual lesions devoid of microorganisms without inflammatory reaction. CNS-WD may have an acute or subacute course with variable response to treatment. Accordingly, subjacent lesions may be those of a severe acute necrotizing encephalitic process or subacute inflammatory lesions involving diencephalic, brainstem, cerebellar and spinal regions. Chronic, cavitary brain lesions may be sequelae of a successful treatment. Early diagnosis should allow appropriate treatment and improve prognosis.
authors: Neurology Department, Hospital Clinic and Institut d'Investigació Biomèdica August Pi I Sunyer (IDIBAPS), Barcelona, Spain.
authors: Mircea
authors: M
authors: Balasa
authors: Ellen
authors: E
authors: Gelpi
authors: M J
authors: MJ
authors: Rey
authors: Jordi
authors: J
authors: Vila
authors: Lluís
authors: L
authors: Ramió-Torrentà
authors: Ana Ma
authors: AM
authors: Quiles Granado
authors: Ricard
authors: R
authors: Molina Latorre
authors: Hubert
authors: H
authors: Lepidi
authors: Didier
authors: D
authors: Raoult
authors: Albert
authors: A
authors: Saiz
mesh_terms: D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology*; D002493:Central Nervous System Diseases / Q000150:complications* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008061:Whipple Disease / Q000150:complications* / Q000473:pathology*
keywords: Whipple's disease