Xanthogranulomatous Hypertrophic Pachymeningitis in a Patient with Lipoprotein X Syndrome: a Rare Case Report
Nikash Shankar1, Vorapat Vorapanya2, Benjamin Cho2, Sidney Barrit2, Robert Hagan2, Jason Mock2, Stephen DeCherney2, William Fischer2, Irena Dujmovic Basuroski3
1UNC Hospitals, 2UNC Chapel Hill, 3University of North Carolina At Chapel Hill
Objective:
To report a rare case of a patient with lipoprotein X (LpX) syndrome and xanthogranulomatous hypertrophic pachymeningitis (XHP).
Background:
LpX is an abnormal lipoprotein that can be seen in cholestatic liver disease. Patients with LpX are at risk for xanthomatosis characterized by the accumulation of excess lipids in different organs. This is the first known report of XHP in a patient with LpX syndrome.
Design/Methods:
Case report.
Results:

A 41-year-old Hispanic female with history of primary biliary cholangitis/autoimmune hepatitis overlap, presented with first-time seizure. Brain magnetic resonance imaging raised a suspicion of right frontal hypertrophic pachymeningitis (HP) (1.2 cm) with midline shift. Cerebrospinal fluid (CSF) studies showed: normal cell count, normal CSF protein, normal angiotensin converting enzyme, negative CSF oligoclonal immunoglobulin G (IgG) bands, elevated CSF IgG index (1.6) and elevated CSF soluble interleukin-2 (sIL-2) receptor (107.0 pg/mL; reference,  £26.8). CSF hematopathology analysis reported no blasts or malignant cells, and infectious CSF work-up was negative. Blood work up revealed: elevated sIL-2 receptor (1133.0 pg/ml; reference, 175.3-858.2), positive antinuclear antibody (Ab) (≥1:2560), positive centromere IgG, negative antineutrophil cytoplasmic Ab, negative anti- Sjögren's-syndrome-related antigen A/B Abs, negative rheumatoid factor, normal IgG4 level, and negative infectious work-up. Lipoprotein metabolism profile evaluation showed elevated total cholesterol, low-density lipoprotein (LDL) and triglycerides, low high-density lipoprotein, and the presence of LpX. Genetic familial hypercholesterolemia and comprehensive lipidemia panels were unrevealing. Dural biopsy was suggestive of xanthogranulomatous inflammation and staining identified no fungi, spirochetes, acid-fast bacteria, or other bacteria. Skin biopsy confirmed xanthogranulomas. The patient was treated with immunosuppression, antiseizure medications, cholesterol and trygliceride- lowering agents, LDL pheresis, however due to multiorgan failure and infectious complications the outcome was poor.

Conclusions:
This case describes previously unreported presentation of LpX with XHP. Patients presenting with HP and cholestatic liver disease should be evaluated for LpX syndrome.
10.1212/WNL.0000000000213279
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