Erdheim-Chester disease masquerading as CLIPPERS Journal Article
| Authors: | Alkabie, S.; Diamond, E. L. |
| Article Title: | Erdheim-Chester disease masquerading as CLIPPERS |
| Abstract: | ObjectivesTo present 4 patients with Erdheim-Chester disease (ECD) based on clinical, radiologic, histopathologic, and molecular genetic findings who had enhancing brainstem lesions and were initially believed to have chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS).MethodsCase series.ResultsAlthough patients with ECD can demonstrate clinical and imaging features similar to CLIPPERS, refractoriness to corticosteroids, lack of fulfillment of specific MRI criteria (i.e., enhancing lesions >3 mm, T2 abnormalities that exceed areas of T1 postgadolinium enhancement), and systemic findings such as "hairy kidney"appearance and metadiaphyseal osteosclerosis on 18F-fluorodeoxyglucose PET-CT help discriminate it from CLIPPERS.DiscussionECD is a histiocytic neoplasm characterized by multiorgan infiltration of clonal histiocytes carrying activating variants of the MAPK-ERK pathway. Neurologic involvement occurs in up to 40% of ECD with frequent brainstem lesions that can mimic acquired neuroinflammatory disorders, such as CLIPPERS. ECD is an important CLIPPERS mimic with distinct pathophysiology and targeted treatments. We highlight the need to consider histiocytic disorders among other alternate diagnoses when findings are not classic for CLIPPERS. © American Academy of Neurology. |
| Keywords: | immunohistochemistry; adult; clinical article; human tissue; treatment response; aged; middle aged; genetics; prednisone; case report; treatment duration; methotrexate; brain radiation; drug megadose; molecular genetics; neuroimaging; nuclear magnetic resonance imaging; magnetic resonance imaging; diagnosis, differential; differential diagnosis; cyclophosphamide; dexamethasone; immunoglobulin; diagnostic imaging; dysphagia; disease severity; death; whole body imaging; bone marrow biopsy; diagnosis; fluorodeoxyglucose f 18; medronate technetium tc 99m; fusion gene; remission; hospital admission; methylprednisolone; disease duration; cholecystectomy; brain biopsy; diplopia; muscle spasm; speech disorder; cholecystitis; disease exacerbation; facial nerve paralysis; bone scintiscanning; aspiration pneumonia; cladribine; piperacillin plus tazobactam; cd163 antigen; cd68 antigen; hoarseness; repeat procedure; deterioration; face disorder; dysesthesia; falling; gait disorder; bone biopsy; dysarthria; nervous system inflammation; infliximab; vemurafenib; limb weakness; quadriplegia; mycophenolic acid; ophthalmoplegia; body weight loss; high throughput sequencing; arm disease; dysmetria; t6 antigen; paraplegia; humans; human; male; female; article; ataxic gait; erdheim chester disease; erdheim-chester disease; balance disorder; robot assisted surgery; cobimetinib; positron emission tomography-computed tomography; positron emission tomography computed tomography; deconditioning; abducens nerve paralysis; neuroinflammatory diseases; t2 weighted imaging; t1 weighted imaging; ocrelizumab; chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroid; ubtd2 braf gene |
| Journal Title: | Neurology: Neuroimmunology & Neuroinflammation |
| Volume: | 11 |
| Issue: | 5 |
| ISSN: | 2332-7812 |
| Publisher: | Lippincott Williams & Wilkins |
| Date Published: | 2024-09-01 |
| Start Page: | e200294 |
| Language: | English |
| DOI: | 10.1212/nxi.0000000000200294 |
| PUBMED: | 39047207 |
| PROVIDER: | scopus |
| PMCID: | PMC11270893 |
| DOI/URL: | |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PDF -- Source: Scopus |
