A 19-year-old woman presented with orthopnea, severe fatigue, bilateral exophthalmos, and gradual loss of vision. She had anemia and mild leucocytosis related to chronic illness. [ncbi.nlm.nih.gov]

The initial therapeutic dose of 3 to 6 10 6 units subcutaneous 3 times per week was reduced to 1 10 6 units 3 times per week because of fatigue. [doi.org]

Flu-like symptoms (Fever, chills, headache, fatigue, nausea/vomiting) b. Decreased appetite c. Constipation d. Low blood counts (red cells, white cells, and clotting cells) e. [histiouk.org]

A 50-year-old man with progressive edema in bilateral lower extremities, numbness, weakness, and muscle atrophy of upper limb for 2 years had been misdiagnosed of neuritis or cervical spondylosis until he presented bone pain. [ncbi.nlm.nih.gov]

Cardiac MRI Unit, University of Florida History: 41 year old black female admitted for chest pain, malaise, weakness and increasing peripheral edema. Tibial biopsy had demonstrated typical findings of Erdheim-Chester disease (ECD) 8 years earlier. [scmr.org]

CD1a(-) histiocytes are identified within a biopsy specimen Clinically, patients may present with bone pain, diabetes insipidus, exophthalmos, neurological signs, and xanthomas, as well as non-specific general symptoms such as fever, weight loss, and weakness [austinpublishinggroup.com]

Symptoms of ECD may include: • Bone pain in the long bones of the arms and legs; • Weight loss; • Night sweats; • Muscle and joint aches, weakness and fatigue; • Difficulty speaking; • Kidney problems; • Soft tissue masses or lesions on the body; • Bulging [secure.ssa.gov]

These may include any or all of the following physical findings: Bone pain, particularly in the legs and arms Muscle and joint aches and pains Weight loss Fatigue and weakness Compromised organ function, which may include kidney issues, breathing difficulty [disabilitybenefitscenter.org]

Whipple’s disease presenting with lung involvement. Thorax 1996; 51 (3): 343–344. 33 Schwartz DA, Ogden PO, Blumberg HM, Honig E. Pulmonary malakoplakia in a patient with the acquired immunodeficiency syndrome. [doi.org]

A 19-year-old woman presented with orthopnea, severe fatigue, bilateral exophthalmos, and gradual loss of vision. She had anemia and mild leucocytosis related to chronic illness. [ncbi.nlm.nih.gov]

Improvement in bone lesions, pain, diabetes insipidus, and other manifestations was gradual over many months. Responses were durable (3 to 4.5 years). [ncbi.nlm.nih.gov]

Abstract We report the case of a patient with recurrent fever of unknown origin (FUO) with prominent back pain, hepatosplenomegaly, and abdominal/pelvic adenopathy suggesting lymphoma. A bone biopsy showed histiocytic infiltration. [ncbi.nlm.nih.gov]

Microscopy showed that fibrotic tissue extended into the periadrenal fatty tissue, but the adrenal glands themselves were not infiltrated Rozenberg et al. ( 23 ) M 57 59 yr (D) Yes ND Orbit retro- peritoneal Exophthalmos, retroperitoneal fibrosis, hepatosplenomegaly [dx.doi.org]

These differed from previously reported adult xanthoma-like papules or periorbital xanthelasma-like lesions. Computed tomography revealed diffuse pulmonary fibrosis and generalized skeletal involvement, including osteolysis and osteosclerosis. [ncbi.nlm.nih.gov]

Xanthoma disseminatum: a rare condition with non-X, non-lipid cutaneous histiocytopathy. Dermatol Surg Oncol 1988; 14 : 1021–1024. 28 Moloney J. Xanthoma disseminatum: its otolaryngological manifestations. [doi.org]

We report a case of ECD presenting within the right breast as a clinically malignant tumor, in addition to bilateral sclerotic lesions of the femurs, bilateral soft tissue masses of the cerebellum, and multiple subcutaneous nodules on the abdominal wall [ncbi.nlm.nih.gov]

Common side effects include injection site reactions, headache, arthralgias, and nasopharyngitis. [doi.org]

[…] found to be more effective in sustaining response in the treatment of hepatitis C at 135 to 185 μg/wk compared with IFN-α 9 mIU/wk. 63 IFN-α and PEG-IFN-α have several potential toxicities, including constitutional (fever, fatigue, flu-like symptoms, myalgias [doi.org]

Achille Aouba, Frédérique Larousserie, Véronique Le Guern, Antoine Martin and Loïc Guillevin, Spumous histiocytic oligoarthritis coexisting with systemic Langerhans’ cell histiocytosis: Case report and literature review, Joint Bone Spine, 76, 6, (701) [doi.org]

In the TV show House, Season 2 episode 17, "All In", the final diagnosis of a 6-year-old boy who presents with bloody diarrhea and ataxia is Erdheim–Chester disease. 01067 at CHORUS [en.wikipedia.org]

Case 1 was a 47-year-old man with ataxia, dysarthria, and intermittent ophthalmoplegia whose cerebellar biopsy had shown only profuse, nonspecific Rosenthal fiber-rich piloid gliosis; ECD was diagnosed only at autopsy. [ncbi.nlm.nih.gov]

It next causes neurological damage, leading to ataxia. Next, the kidney and liver fail. Death generally occurs within 12 hours of the onset of the first symptoms. However, if diagnosed quickly, the disease can be treated and reversed. [house.wikia.com]

Four years later, he developed movement disorders with dysarthria and cognitive impairment. [ncbi.nlm.nih.gov]

Her ataxic dysarthria had worsened and she had left facial weakness. She had marked limb and truncal ataxia. Brain MRI showed that the enhancing lesions in the brainstem and cerebellar peduncles were more prominent. [jnnp.bmj.com]

RESULTS: There were seven males and three females; mean age at clinical onset was 49.6 years (range 38-59); cerebellar ataxia with or without other neurological symptoms was the only or the main clinical manifestation; diabetes insipidus was present in [ncbi.nlm.nih.gov]

These three patients were found to have cerebellar ataxia at presentation. Figure 3a: Axial images in 44-year-old man with cerebellar ataxia. [doi.org]

Further studies are still warranted to better understand and treat this neglected and overlooked disease. Copyright 2015 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved. [ncbi.nlm.nih.gov]