Unusual orbital, scleral and choroidal findings in Erdheim-Chester disease: a case report.

This case report highlights a unique presentation of Erdheim-Chester Disease (ECD) with bilateral scleral lesions, choroidal infiltration, and extensive sinus involvement. It is the first case report where the diagnosis was confirmed through a scleral biopsy after an initial presentation of a unilateral nodular scleritis. There was a gradual disease progression and ocular examination later revealed bilateral subconjunctival hyperemic lesions and mild exophthalmos, ophthalmoplegia, and extensive choroidal infiltration. Infiltration of the frontal and maxillary sinus was present and extended into the nasal cavity and both orbits. The diagnostic work-up is described in detail. Current treatment options are analyzed. It is emphasized that the ophthalmologist can play a crucial role in the diagnosis of ECD, given the substantial prevalence of orbital and ocular symptoms. The overall prognosis for ECD remains unfavorable, particularly in cases with orbital involvement. This case underscores the complexity and importance of a multidisciplinary approach in managing ECD.

Monoclonal gammopathy of renal significance (MGRS) histopathologic classification, diagnostic workup, and therapeutic options.

Monoclonal gammopathy of renal significance (MGRS) includes all kidney disorders caused by a monoclonal protein (M-protein) secreted by a small plasma cell clone or other B-cell clones in patients who do not meet the diagnostic criteria for multiple myeloma or other B-cell malignancies. The underlying disorder in patients with MGRS is generally consistent with monoclonal gammopathy of undetermined significance (MGUS). MGRS-associated kidney disorders are various and the list is still expanding. The kidney disorders can manifest as glomerular diseases, tubulopathies, and vascular involvement with varying clinical presentations. Diagnosis is often challenging because of the wide spectrum of MGRS, and it is difficult to establish a pathogenic link between the presence of the M-protein or serum free light chains and kidney diseases; further complicating accurate diagnosis is the high incidence of MGUS and/or kidney disorders, independent of MGRS, in elderly patients. However, MGRS can significantly impair kidney function. Because treatment can stop and also reverse kidney disease, early recognition is of great importance. A combined haematologic and nephrologic approach is crucial to establish the causative role of the M-protein in the pathogenesis of kidney disease. Clone-directed therapy, which may include autologous stem cell transplantation in eligible patients, often results in improved outcomes. In this review, we discuss the histopathologic classification of MGRS lesions, provide a renal and haematologic diagnostic workup, discuss treatment options for MGRS, and introduce a Benelux MGRS Working Group.

Autoimmune haemolytic anaemia associated with a thymoma: case report and review of the literature.

A 67-year-old female presents with a small mass in the anterior mediastinum on chest computed tomography. A biopsy proves the mass to be a spindle-cell-type or type A thymoma. Subsequently the patient develops fever and severe Coombs-positive haemolytic anaemia. She is initially treated with oral corticosteroids. Because of persistence of the haemolysis subsequent thymectomy is performed. Haemolysis disappears almost instantly and does not return after discontinuation of the oral corticosteroids. Review of the literature reveals only 17 other cases of thymoma-associated autoimmune haemolytic anaemia.