Erdheim-Chester disease of the central nervous system: new manifestations of a rare disease.

BACKGROUND AND PURPOSE: ECD is a rare non-Langerhans-cell histiocytosis, which can involve the CNS; therefore, CNS imaging findings have been described in only a small number of patients. To gain additional insight into the CNS manifestations of ECD, we reviewed the findings on imaging of the brain, head and neck, and spine in patients with ECD who presented to our institution. Here, we illustrate manifestations that have not, to our knowledge, been previously described. MATERIALS AND METHODS: CT, MR imaging, and PET/CT studies of the brain, maxillofacial region, and spine were reviewed in 11 patients with ECD. RESULTS: Four new manifestations of ECD were present, including the following: a stellate appearance of intracranial extra-axial lesions, ependymal enhancement along the lateral ventricle with deep linear extension to the lentiform nucleus, irregular enhancement in the pons, and diffuse involvement of the vertebral column on PET/CT. CONCLUSIONS: ECD has a variety of imaging appearances in the CNS, including new manifestations described herein. Neuroradiologists should be aware of these manifestations to avoid mistaking them for other disease processes.

Dominant NZB contributions to lupus in the (SWR x NZB)F1 model.

(SWR x NZB)F1 (or SNF1) mice succumb to lupus nephritis. Analysis of NZB x SNF1 backcross mice has recently revealed the existence of four dominant SWR loci (H2 on Chr 17, Swrl-1 on Chr 1, Swrl-2 on Chr 14 and Swrl-3 on Chr 18), and two NZB loci (Nba1 and Lbw2/Sbw2, both on Chr 4) conferring lupus susceptibility. The present study focusing on a panel of 88 SWR x SNF1 backcross mice reveals the existence of five suggestive loci for antinuclear antibody formation, consisting of three dominant NZB contributions (Nba4 on Chr 5, Lbw4 on Chr 6, and Nba5 on Chr 7), and two recessive SWR contributions (Swrl-1 on Chr 1, and Swrl-4 on Chr 10). In addition, this study reveals a dominant NZB locus for GN (Nba3 on Chr 7, peak at 31 cM), and a dominant NZB locus linked to early mortality, on Chr 10 (peak at 4 cM). Collectively, these studies suggest that lupus in the SNF1 strain is the epistatic end-product of four dominant SWR loci and four dominant NZB loci. The immunological functions and molecular identities of these loci await elucidation.