MR Imaging of Central Nervous System Whipple Disease: A 15-Year Review

Abstract

SUMMARY: CNS WD is fatal if antibiotics are not begun early, but knowledge regarding the variety of presentations on MR imaging is limited. In order to more effectively recognize this entity on MR imaging, the Mayo Clinic medical records were reviewed for subjects diagnosed with CNS WD from 1992-2006 who had also undergone MR imaging of the neuraxis. Seven subjects were identified and their imaging findings were reviewed by the authors. Four of 7 had head MR imaging findings indicative of WD. Two subjects demonstrated high T2 signal within the corticospinal tracts. CNS WD may demonstrate high T2 signal with minimal enhancement and no restricted diffusion, primarily in the midline of the midbrain, hypothalamus, and mesial temporal lobes and occasionally the corticospinal tracts. MR imaging may also be normal. Radiologists should be aware of these presentations and be prepared to mention CNS WD as a diagnostic possibility since early antibiotic therapy may significantly impact morbidity and mortality.ABBREVIATIONS: asxs ϭ asymptomatic; CNS ϭ central nervous system; FLAIR ϭ fluid-attenuated inversion recovery; GI ϭ gastrointestinal; NP ϭ not performed; PAS ϭ periodic-acid-Schiff; PCR ϭ polymerase chain reaction; Rx ϭ therapy; WD ϭ Whipple disease W D is a rare disorder that was first described in 1907 and subsequently found to be caused by a bacterium. Although WD is a systemic illness, it may present with signs and symptoms isolated to gastrointestinal, cardiac, or central nervous systems.1 Approximately 33% of patients with WD experience neurologic symptoms, including encephalopathy, ophthalmoplegia, myoclonus, ataxia, upper motor neuron signs, and hypothalamic manifestations, among others.WD is invariably fatal without treatment, but even with antibiotics, 2%-33% of patients relapse, most often with a neurologic manifestation.2 CNS involvement of WD carries a grim prognosis with approximately 25% of patients dying within 4 years of diagnosis and another 25% having major neurologic sequelae.3 Approximately 60% of patients with CNS WD experience some improvement in their symptoms during antibiotic therapy; thus, early diagnosis and treatment initiation are paramount for survival.1 Diagnostic efforts may be hampered by the plethora of presenting signs and symptoms as well as the lack of sensitivity and specificity of laboratory tests.CNS WD is a subset of a rare disease. Only approximately 1000 cases of all types of WD have been reported, and our understanding of head MR imaging findings is based only on case reports; thus, each new case imaged with modern equipment has the potential to expand our understanding significantly as long as the diagnosis has been carefully established. Materials and MethodsThis retrospective study was approved by the Mayo Clinic institutional review board. The Mayo Clinic medical records from 1992 to 2006 were searched for terms including "Whipple disease" and "encephalopathy." Review of an initial 140 subjects identified with some form of WD revealed 20 patients thought to have CNS WD....

Clinical Manifestations, Treatment, and Diagnosis of Tropheryma whipplei Infections

“…Symptoms of the central nervous system (CNS) are the third most frequent manifestation of Whipple's disease (124) and range from 6 to 63% (Table 3) (33,102,125,126). Depending on the location of the lesions, symptoms can be both central or peripheral and either isolated or multifocal.…”

“…While clinically effective, there is solid in vitro evidence that the target for trimethoprim is missing in the bacterium (see below). This regimen results in good antibiotic levels in the brain, which is important, as even without specific symptoms, Whipple's disease often affects the CNS (10,33,124,147). In patients who are intolerant to ceftriaxone, meropenem can be used as an alternative, and for patients intolerant to co-trimoxazole, doxycycline can be used (147,148,209).…”

“…The prognosis for patients with symptomatic central nervous system involvement remains poor, as major sequelae are seen in 25% of patients and 4-year survival rates are Ͻ75% (131). Early diagnosis and treatment are thus essential in these patients (124). Cardiovascular involvement.…”

A 52‐Year‐Old Man with Myoclonic Jerks

“…Neurologic signs of Whipple disease are protean and isolated neurologic symptoms due to T. whipplei without histologic evidence of intestinal involvement rarely occur and present further complexity (1,4).…”

Isolated inctracranial Whipple's disease—Report of a rare case and review of the literature

“…It may be highly non-specific but useful to guide biopsy and aid in following evolution during treatment [20,27]. Black et al [45] recently published a 15 year review on MRI findings of CNS WD. They identified 7 patients with a definite diagnosis of WD who had undergone MRI imaging.…”