1/41. Psychoneuroendocrine disturbances in a patient with a rare granulomatous disease. erdheim-chester disease (ECD) and Langerhans' cell histiocytosis (LCH) are rare granulomatosis-like diseases of unknown etiology which are characterized by lipoidgranulomatous infiltrates in various organs. Contrary to LCH, endocrine and cerebral lesions were infrequently observed in ECD. We report on a patient with the clinical diagnosis of ECD displaying endocrine and cerebral manifestations and skeletal, pulmonary and soft tissue involvement. Disturbance of the endocrine system was revealed by enlargement of the pituitary, partial deficiency of growth hormone (GH), hyperprolactinemia and testosterone deficiency. Cerebral involvement included sinus vein thrombosis, pathologic acoustic evoked potentials, persistence of gadolinium enhancement after magnetic resonance imaging and hypomania. These findings emphasize the importance to assess endocrine and cerebral function in patients with rare granulomatous diseases like ECD and multiorgan involvement. ( info) |
2/41. Failure of radiation therapy for brain involvement in Erdheim Chester disease. A patient with suprasellar and brain stem involvement in Erdheim Chester disease (ECD) underwent magnetic resonance (MR) imaging and proton MR spectroscopy (1H MRS) of the ventral pons before and 1, 4 and 18 months after external whole-brain (24 Gy) radiotherapy. By revealing a decrease of the N-acetyl-aspartate/choline ratio in the pons, 1H MR spectroscopy anticipated lesions growth on MR imaging. In line with the results in four patients reported in the literature, our observation indicates that external radiation therapy is not effective for intracranial involvement in ECD. ( info) |
| BACKGROUND: erdheim-chester disease is a rare non-Langerhans' cell histiocytosis. OBJECTIVE: This case report is presented to familiarize clinicians with erdheim-chester disease and its differential diagnosis. RESULTS AND CONCLUSION: erdheim-chester disease presents with unique clinical and pathologic findings. Its xanthoma-like lesions can cause significant morbidity and mortality. ( info) |
4/41. Spinal dural involvement in erdheim-chester disease: MRI findings. There are very few reported cases of erdheim-chester disease that document involvement of dura at the level of the spinal cord. Among these reports, we know of no publication that includes detailed MRI findings. To the best of our knowledge, the case presented here is the first published report of this specific manifestation of erdheim-chester disease that includes detailed MRI findings in addition to the related history. Spinal manifestations of erdheim-chester disease in our patient were at the dorsal and lumbar levels (T1-T6 and T12-T11 respectively). Both epidural and subdural linear large masses were present, causing spinal cord compression at the dorsal level and epidural thickening at the lumbar level. ( info) |
5/41. A case of erdheim-chester disease with bilateral orbital involvement. PURPOSE: To describe a case of erdheim-chester disease with bilateral orbital involvement. methods: A 43-year-old female with bilateral proptosis was presented. Its clinical features, image findings, pathological character and therapeutic effect were evaluated. RESULTS: CT demonstrated bilateral, diffuse orbital mass. Histopathologic assessment revealed a diffuse xanthogranulomatous process with clusters of lipidladen histocytes. Numerous Touton giant cells were scattered throughout the lesion. Renal and heart failure happened during a 6-year follow-up period. Long bones roentgenogram demonstrated diffuse symmetrical sclerosis with extensive, lytic lesions. Systemic administration of corticosteroids, chemotherapy, immunoglobulin and traditional Chinese medicine showed good therapeutic result. CONCLUSIONS: An administration of systemic corticosteroids, chemotherapy, immunoglobin and traditional Chinese medicine can control erdheim-chester disease. Further exploration of its pathogenesis and collection of useful clinical data are required. ( info) |
| erdheim-chester disease is a rare systemic non-Langerhans histiocytosis of unknown etiology that affects multiple organ systems. Cerebral involvement is most often caused by extra-axial masses of foamy histiocytes, whereas intraparenchymal manifestations are less frequent. review of the literature yielded a total of seven patients with increased signal intensities on T2-weighted images in both dentate nuclei and the peridentate regions. We report on a 44-year-old man with biopsy-proven erdheim-chester disease and slowly progressive cerebellar dysfunction. MRI showed additional symmetrical hyperintense signal changes in the superior cerebellar peduncle as well as in the trigonum lemnisci on coronal FLAIR images. The widespread neurological manifestations of cerebral erdheim-chester disease and differential diagnosis are discussed. ( info) |
| erdheim-chester disease (ECD) is a rare non-Langherans form of histiocytosis characterized radiologically by symmetrical sclerosis of the metaphysis and the diaphysis of long tubular bones. macrophages are potent interleukin-6 (IL-6) producers and elevated IL-6 serum levels have been described in pathological conditions characterized by increased bone resorption. In a patient with ECD, during the acute phase of the disease we found high serum levels of IL-6 and IL-6 soluble receptor (sIL-6R) and high levels of bone turnover markers. After 5 years of combination therapy with oral prednisone and intravenous clodronate a significant reduction in the above mentioned biological parameters was seen. We suggest that the systemic disorders present in ECD could be related to the high serum levels of IL-6 and sIL-6R. We also propose the use of bisphosphonates in the clinical management of ECD. ( info) |
| A 38-year-old man presented with numerous dermal nodules, similar to xanthoma disseminatum, that were histologically consistent with his diagnosis of erdheim-chester disease, a non-Langerhans cell histiocytosis. Other cutaneous manifestations of this disease include eyelid xanthelasma, pretibial dermopathy and pigmented lesions of the lips and buccal mucosa. The histological diagnosis of erdheim-chester disease was originally made on the patient's retroperitoneal tissue, obtained at a laparotomy for surgical treatment of a presumed phaeochromocytoma, and confirmed by the pathognomonic long bone X-ray findings of this disease. ( info) |
9/41. erdheim-chester disease: a unique presentation with liver involvement and vertebral osteolytic lesions. erdheim-chester disease is a very rare xanthogranulomatous, non-Langerhans cell systemic histiocytosis with an unknown etiology and pathogenesis. Histologically, it is characterized by a diffuse infiltration with large, foamy histiocytes, rare Touton-like giant cells, lymphocytic aggregates, and fibrosis. The histiocytes differ from the Langerhans cell group in ontogenesis, immunohistochemistry (positive for CD68 and negative for CD1a and S100 protein), and ultrastructural appearance (lack of Birbeck granules). Although most of the cases have symmetric osteosclerosis of the long bones, an involvement of the axial skeleton has also been described. Extraskeletal lesions are present in more than 50% of the patients and may involve the retroperitoneal space, lungs, kidneys, brain, retro-orbital space, and heart. This study presents the case of a patient with erdheim-chester disease with vertebral destruction and, for the first time, to our knowledge, involvement of the liver. The diagnosis is based on radiologic, histologic, immunohistochemical, and ultrastructural findings. ( info) |
10/41. Extracerebral subdural manifestation of Chester-Erdheim disease associated with a giant adenoma of the pituitary. Chester-Erdheim disease is a rare non-Langerhans histiocytosis, affecting within the CNS mainly the neurohypophyseal unit, the retrobulbar space and the parenchyma of cerebellum, cerebrum and brainstem. Here we present a case of a 55-year-old woman who developed an exophthalmus, edema and dyspnea, finally leading to death 4 months post admission to the hospital. A cMRI showed a retrobulbar fibrosis, a tumor in the sella turcica, and further tumor formation expanding from the pons to the spinal cord, but without involvement of the dural sheet. autopsy revealed multiple tumors attached to the pituitary gland, the tentorium, and the brainstem as well as a diffuse thickening of the dura. Histologically, the tumor tissue consisted of densely packed lipid-laden foamy macrophages positive for CD68 and intervening fibrillary cords. Interestingly, tumor cells did not infiltrate/affect the parenchyma but showed a strictly extracerebral/ subdural location. In addition, sections of the pituitary tumor revealed a chromophobe giant adenoma of the pituitary gland. As to our knowledge this is the first detailed description of an exceptional case of intracranial CED presenting with strictly extracerebral/subdural tumor masses accompanied by a giant adenoma of the pituitary gland. ( info) |