Intracerebral Whipple's disease diagnosed by stereotactic biopsy: A case report and review of the literature

OBJECTIVE AND IMPORTANCE: This case demonstrates the rare occurrence of int racerebral Whipple's disease in a patient lacking classic systemic manifest ations of the disease. Because of the nonspecific presentation and the typi cally deep-seated location of cerebral lesions in these patients, definitiv e diagnosis is frequently problematic. We present the first reported use of stereotaxy-guided brain biopsy to confirm the diagnosis of isolated intrac ranial Whipple's disease. CLINICAL PRESENTATION: The patient was a 36-year-old man who presented with a 4-month history of progressive lethargy, hypersomnia, behavioral changes , and weight gain. The results of the physical examination were remarkable only for findings of hypogonadism. Subsequent laboratory evaluation confirm ed the diagnosis of hypogonadotrophic hypogonadism, with low levels of test osterone, luteinizing hormone, cortisol, and prolactin. INTERVENTION: A magnetic resonance image of the brain demonstrated hyperint ense lesions on T2-weighted images in the regions of the right fornix, hypo thalamus, and putamen that subsequently enhanced with intravenously adminis tered contrast medium. A biopsy was then obtained from the right putaminal lesion under stereotactic guidance. Histopathological analysis of the tissu e revealed findings consistent with intracerebral Whipple's disease that we re subsequently confirmed using electron microscopy. CONCLUSION: Intracerebral Whipple's disease should be included in the diffe rential diagnosis of patients presenting with progressive dementia and cogn itive decline. In these patients, lesions have typically been observed in t he hypothalamus, cingulate gyrus, basal ganglia, insular cortex, and cerebe llum. As evidenced by our case, stereotaxy affords clinicians the attractiv e option of a minimally invasive technique by which to obtain tissue from s uch deep-seated areas. A review of this rare neurosurgical entity is presen ted.