1/11. A patient with diabetes insipidus and periorbital swellings; erdheim-chester disease.erdheim-chester disease is a rare multisystem disease in which a progressive xanthogranulomatous infiltration of several tissues can be seen. We describe a woman, known to have diabetes insipidus for ten years, with periorbital, retroperitoneal, mediastinal, axillar and inguinal involvement. On histological examination a granulomatous infiltration of fatty tissue and striated muscle was seen, consisting of Touton giant cells, histiocytes with foamy cytoplasm and lymphocytes. Immunohistochemical staining with CD-1a and S-100 was negative and on electron microscopy no Langerhans granules were seen. These findings led to the diagnosis of erdheim-chester disease. She had a good response on steroids. Because of some similar clinical features of Langerhans cell histiocytosis and erdheim-chester disease, a histiocyte disorder seems the most probable cause.- - - - - - - - - - ranking = 1keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
2/11. "Coated aorta": a new sign of erdheim-chester disease.erdheim-chester disease is a rare, non-Langerhans cell form of histiocytosis characterized by osteosclerosis of the metaphyseal regions of long bones, diabetes insipidus, proptosis, and retroperitoneal fibrosis. The latter usually involves the perirenal area and leads to hydronephrosis. Periaortic fibrosis is less frequent. We describe 3 unusual cases of erdheim-chester disease with periaortic fibrosis involving the whole aorta and leading to a "coated aorta" appearance on computed tomography scans. Faced with such a singular "coated aorta," bone scintigraphy can be very helpful when searching for Erdheim-Chester disease.- - - - - - - - - - ranking = 0.2keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
3/11. erdheim-chester disease: two cases of orbital involvement.erdheim-chester disease (ECD) is an increasingly recognised form of fibro-inflammatory process characterised by xanthomatous histiocytes containing large amounts of ingested lipid, plasma cells, macrophages and Touton-type giant cells. Ophthalmic involvement in ECD has been reported in only 22 cases. We describe two patients, one presenting with diabetes insipidus and subsequently developing orbital pseudotumours and retroperitoneal fibrosis, the other presenting with exophthalmos and diplopia. The first patient was treated with cladribine and subsequently developed sudden onset of bilateral blindness while the second required radiation therapy for the retro-orbital process and developed radiation retinopathy. These cases typify the variable presentation and course in patients with ECD.- - - - - - - - - - ranking = 0.2keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
4/11. Multiple system erdheim-chester disease with massive hypothalamic-sellar involvement and hypopituitarism.erdheim-chester disease (ECD) is a rare multiple system histiocytosis that is characterized pathologically by xanthogranulomatous infiltrates and radiologically by symmetrical sclerosis of long bones. The diagnosis is often confirmed by biopsy of bone or of orbital or retroperitoneal soft tissue. Intracranial involvement is rare. The authors report a case of ECD in which the diagnosis was made after biopsy of a hypothalamic mass. The mass had been discovered during a workup for panhypopituitarism in a 55-year-old man with urological and bone disease. Aside from diabetes insipidus, other features of pituitary insufficiency have seldom been reported and no patients have presented with a hypothalamic tumor. The endocrinological and neurological aspects of ECD are discussed, as is its differential diagnosis. Reported cases of the disorder associated with hypopituitarism or found during biopsy of central nervous system structures are also reviewed.- - - - - - - - - - ranking = 0.2keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
5/11. A xanthogranulomatous histiocytosis in a child presenting with short stature.We evaluated a 7-year-old boy presenting with a neck mass that was diagnosed as juvenile xanthogranuloma on excisional biopsy. Despite this diagnosis, an exhaustive evaluation was undertaken because of marked short stature. Examination revealed growth hormone deficiency and diabetes insipidus, as well as widespread lesions in the head, mediastinum, retroperitoneum, skeleton, and elsewhere. Biopsies of the lesions in the mediastinum and right tibia suggested a diagnosis of xanthoma disseminatum with bony involvement, suggesting the Erdheim-Chester variant of xanthogranulomatous histiocytosis, previously reported only in adults. The diagnosis is contrasted to the more common clinical entities of juvenile xanthogranuloma and the Langerhans' cell histiocytoses. This case illustrates the gravity with which otherwise unexplained short stature should be considered.- - - - - - - - - - ranking = 0.2keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
6/11. Neuroradiologic aspects of Chester-Erdheim disease.In three cases of histologically proved Chester-Erdheim disease there was a large anterior epidural lesion from C-3 to L-2 in one patient; dural masses and orbital infiltration in a second patient; and dural, choroid plexus, retroorbital, and hypophyseal lesions in a third patient. diabetes insipidus, exophthalmia, long bone lesions, and retroperitoneal infiltration were present.- - - - - - - - - - ranking = 0.038902734781621keywords = insipidus (Clic here for more details about this article) |
7/11. erdheim-chester disease and slowly progressive cerebellar dysfunction.A 59 year old woman developed pronounced thirst, increased water intake, and increased urinary output followed by slowly progressive cerebellar symptoms. brain MRI showed abnormal hyperintensity on T2 weighted studies in the region of both dentate nuclei without atrophy of the cerebellum or the brainstem. A 99mTC diphosphonate bone scan showed bone lesions in the distal parts of both femurs as well as distal and proximal parts of both tibias. The diagnosis of erdheim-chester disease was made by bone biopsy. This is the first case of erdheim-chester disease presenting as a slowly progressive cerebellar syndrome and diabetes insipidus, and also showing high signal lesions in deep cerebellar nuclei on MRI. Skeletal surveys are indicated for patients with otherwise unexplained slowly progressive cerebellar symptoms.- - - - - - - - - - ranking = 0.2keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
8/11. erdheim-chester disease: a case report with immunohistochemical and biochemical examination.This report describes a 47-year-old man with erdheim-chester disease (EC), the second case reported in japan. The patient complained of knee pain, and the roentgenogram of the bilateral legs revealed symmetric osteolytic lesions with sclerosis of the metaphyseal regions of the long bones. Histological examination of the biopsy specimen showed a xanthogranulomatous lesion consisting of aggregations of foamy macrophages and Touton-type giant cells. Immunohistochemical study of the foamy cells in the lesion showed positive reaction to anti-Kp-1, anti-S-100 alpha, beta, anti-neuron-specific enolase (NSE), anti-alpha-1-antichymotrypsin, anti-alpha-1-antitrypsin, and anti-lysozyme antibodies. Electron microscopy showed many lipid droplets in the cytoplasm, but no Langerhans granules. These results suggested that the disease was part of the spectrum of histiocytosis but was different from Langerhans cell histiocytosis. Biochemical analysis of material extracted from a lesion showed the predominance of cholesterol ester. The disease progressed to central diabetes insipidus, and the involvement of multiple organs was indicated by a magnetic resonance image.- - - - - - - - - - ranking = 0.2keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
9/11. erdheim-chester disease. Clinical and radiologic characteristics of 59 cases.We made a retrospective evaluation of clinical and radiologic features, treatment, and outcome of erdheim-chester disease, a rare non-Langerhans cell histiocytosis. We had 7 patients coming from 3 French teaching hospitals and reviewed 52 cases from the literature. These cases were considered to have erdheim-chester disease when they had either typical bone radiographs (symmetrical long bones osteosclerosis) and/or histologic criteria disclosing histiocytic infiltration without features for Langerhans cell histiocytosis (no S-100 protein, no intracytoplasmic Birbeck granules). Ages at diagnosis ranged from 7 to 84 years (mean /- SD = 53 /- 14 yr) with a male/female ratio of 33/26. Bone pain was the most frequent clinical sign (28/59), mostly located in the lower limbs. exophthalmos and diabetes insipidus were found in respectively 16/59 and 17/59 patients. General symptoms (fever, weight loss) and "xanthomas" (mainly located on the eyelids) were present in 11/59 patients. Retroperitoneal involvement was found in 17/59 patients. Skeletal X-ray showed typical osteosclerosis of the diaphysis of the long bones in 45/59 patients. Bone radiographs showed osteolytic lesions of the flat bones (skull, ribs) in 8 patients. Histologic diagnosis was performed after a bone biopsy (28 patients), a retroorbital biopsy (9 patients), and/or a biopsy of the retroperitoneal infiltration or the kidney (11 patients). Six of our 7 patients but only 5 of 52 patients from the literature had the complete histologic criteria, disclosing no Birbeck granules or S-100 immunostaining. In other cases, histologic results usually described a xanthogranulomatous infiltration by foamy histiocytes nested in fibrosis. Treatment was corticotherapy (20/59), chemotherapy (8/59), radiotherapy (6/59), surgery (3/59) and immunotherapy (1 patient). Twenty-two patients died after a mean follow-up of 32 /- 30 mo (range, 3-120 mo). In conclusion, erdheim-chester disease may be confused with Langerhans cell histiocytosis as it sometimes shares the same clinical (exophthalmos, diabetes insipidus) or radiologic (osteolytic lesions) findings. However, it also appears to have distinctive features. patients are older and have a worse prognosis than those with Langerhans cell histiocytosis, and the diagnosis relies on the association of specific radiologic and histologic findings.- - - - - - - - - - ranking = 0.4keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
10/11. Neurological manifestations of erdheim-chester disease.erdheim-chester disease is a rare sporadic systemic histiocytic disease of unknown aetiology that affects multiple organ systems. The case records of all patients with erdheim-chester disease who had been seen at the Mayo Clinic between 1975 and 1996 were reviewed to assess the neurological manifestations of the disease. Two of 10 patients had neurological involvement. A 42 year old woman developed central diabetes insipidus and a progressive cerebellar syndrome. brain MRI showed a lesion in the left pons with patchy gadolinium enhancement and T2 weighted signal abnormalities extending into both cerebellar peduncles and the medulla. biopsy of the brainstem mass showed a xanthogranulomatous lesion. The second patient was a 53 year old man with retroperitoneal fibrosis secondary to xanthogranulomatous infiltration. Although he had no neurological symptoms and a normal neurological examination, MRI of the head showed multiple uniformly enhancing extra-axial masses along the dura of both convexities and the falx, and a mass in the left orbital apex. Both patients had the characteristic radiographic and bone scan findings of erdheim-chester disease. review of the literature disclosed a wide variety of neurological manifestations in erdheim-chester disease. The most frequent CNS manifestations are diabetes insipidus, cerebellar syndromes, orbital lesions, and extra-axial masses involving the dura.- - - - - - - - - - ranking = 0.4keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
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