Doença de Erdheim-Chester / Erdheim-Chester Disease

A Doença de Erdheim-Chester é uma histiocitose não Langerhans rara e de incidência ainda desconhecida. Caracteriza-se por lesões osteoescleróticas de ossos longos podendo, também, infiltrar tecidos extraesqueléticos como coração, pulmões, olhos e retroperitônio. É relatado o caso de uma paciente portadora de Doença de Erdheim-Chester tratada no Hospital de Clínicas de Porto Alegre (AU)

Erdheim-Chester disease is a rare form of non-Langerhans histiocytosis whose incidence remains unknown. Characterized by osteosclerotic lesions in long bones, it can also penetrate such extraskeletal tissues as heart, lungs, eyes and retroperitoneum. Here we report the case of a female patient with Erdheim-Chester disease treated at the Hospital de Clínicas of Porto Alegre (AU)

Cardiac involvement in Erdheim-Chester disease: a case report

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis of unknown etiology characterized by proliferation of lipid-containing foamy histiocytes affecting bones and potentially every organ. There is a wide clinical spectrum of the disease, ranging from asymptomatic bone or soft-tissue lesions to life-threatening systemic involvement. Although the initial descriptions published by Jakob Erdheim and William Chester in 1930 included a patient with right atrial infiltration on autopsy, cardiovascular involvement in ECD has only gained more recognition recently. In the present report, we describe a case with cardiac involvement, presenting with symptomatic heart failure and a cardiac mass assessed with echocardiogram and cardiac magnetic resonance imaging.

Erdheim-Chester disease in a child / La enfermedad de Erdheim-Chester en una niña

Erdheim-Chester disease (ECD) is a rare systemic non-Langerhans histiocytosis that affects multiple organ systems. It occurs more often in adults, and paediatric ECD is extremely rare. The diagnosis of ECD can be established based on clinical presentations and imaging but the final diagnosis should be based on biopsy. Treatment of ECD has involved the use of corticosteroids, radiotherapy, chemotherapy, surgery and haematopoietic stem cell transplantation, yet the efficacy of these treatments is difficult to determine. At present, it is thought that the treatment of interferon-α (IFN-α) is safe and effective for ECD. Herein, we report on an 11-year old girl who was admitted to hospital because of systemic bone pain and limping, and the final diagnosis of ECD was based on evidence provided by her clinical presentation, imaging and biopsy of a lesion of the right ilium. The patient was treated with subcutaneous IFN-α at a dosage of 3 Χ 10(6) units three times weekly for 19 months. We thought that the treatment of IFN-α was safe and effective for the girl's clinical manifestations, and IFN-α might be a valuable first-line therapy for paediatric ECD.

La enfermedad Erdheim-Chester (ECD) es una enfermedad sistémica rara caracterizada por histocitosis de células no Langerhans, que afecta múltiples sistemas orgánicos. Se presenta más a menudo en adultos, siendo su ocurrencia pediátrica sumamente rara. El diagnóstico de ECD puede establecerse a partir de sus manifestaciones clínicas e imagen médica, pero su diagnóstico final debe basarse en la biopsia. El tratamiento de ECD incluye el uso de corticosteroides, radioterapia, quimioterapia, cirugía y trasplante de células madre hematopoyéticas. Sin embargo, es difícil determinar la eficacia de estos tratamientos. En la actualidad, se piensa que el tratamiento con interferon-α (IFN-α), es seguro y eficaz para ECD. Aquí reportamos el caso de una niña de 11 años, que fue ingresada al hospital debido a dolores óseos sistémicos y cojera. El diagnóstico final de ECD se basó en evidencias proporcionadas por sus manifestaciones clínicas, el uso de la imagen médica, y la biopsia de una lesión del ilion derecho.