1/9. Determination of extent and activity with radionuclide imaging in erdheim-chester disease.erdheim-chester disease usually involves the diaphyseal and metaphyseal regions of tubular bones and various visceral organs. A 56-year-old woman presented with the histologically confirmed diagnosis of erdheim-chester disease. A Tc-99m MDP bone scan revealed the entire extent of the skeletal disease and showed unusual involvement of the epiphyses and axial skeleton. In addition to MRI, a Ga-67 citrate scan including SPECT showed extensive soft-tissue infiltration of different organs. Both Tc-99m MDP and Ga-67 scintigraphy are useful tools in determining the distribution of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/9. Successful treatment of rhinocerebral mucormycosis with liposomal amphotericin b and surgery in two diabetic patients with renal dysfunction.The zygomycetes are a class of fungi that can cause a variety of infections in humans. Rhinocerebral mucormycosis is a rare disease and usually affects diabetic or immunosuppressed patients. The disease progresses rapidly and is usually fatal despite aggressive surgical and medical therapy. We report the management of two cases of rhino-sinusal and orbital mucormycosis in diabetic patients on treatment with corticosteroids, and mild renal impairment, successfully treated with a combination of aggressive surgical debridement and liposomal amphotericin b.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/9. Tendonitis in variant hyperimmunoglobulinaemia D and periodic fever syndrome--a rare disease with a new symptom.Hyperimmunoglobulinaemia D syndrome (HIDS) is defined as recurrent fever, generalised lymphadenitis, abdominal pain, arthritis and raised polyclonal serum IgD >100 IU/ml. The cause is a mutation in the mevalonate kinase gene. Other periodic fever syndromes are known. We report a new patient and describe orbital tendonitis as a hitherto unreported symptom CONCLUSION: Without any underlying cause, the tendonitis must be seen as new symptom of variant hyperimmunoglobulinaemia D syndrome. We speculate that the inflammation of the Tenon spatium is similar to the process of inflammation of the connective tissue in the joint in hyperimmunoglobulinaemia D syndrome where deposits of C3 and IgM are present. Variant hyperimmunoglobulinaemia D syndrome can be present in one family.- - - - - - - - - - ranking = 4keywords = rare disease (Clic here for more details about this article) |
4/9. Management of spontaneous enophthalmos due to silent sinus syndrome: a case report.Silent sinus syndrome (SSS) is a rare disease exhibiting unilateral enophthalmos and hypoglobus. A 26-year-old white female presented with right side enophthalmos and hypoglobus. There was no history of previous trauma or maxillary sinus diseases. A CT scan showed an opacified right maxillary antrum with decreased volume and downward bowing of the right orbital floor. From clinical and radiological findings the diagnosis SSS was made. Biopsies were collected from the maxillary sinus for the exclusion of malignancy. Two months later orbital floor reconstruction was carried out. Before antrostomy of the affected maxillary sinus, a relative enophthalmos of 4mm was determined. Five days after antrostomy the value reduced to 2.3mm. During the following 2 months the enophthalmos remained constant. At the end of the operation for orbital floor reconstruction it was 0.1mm. Five days after surgery the relative enophthalmos increased to 0.8mm. The value remained constant during the following 3 months. Initial antrostomy of the affected maxillary sinus may lead to a relevant, spontaneous reduction of enophthalmos. After a minimum period of 2 months a re-evaluation should be made, if a reconstruction of the orbital floor is still necessary for the correction of the globe position.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/9. Juvenile dermatomyositis presenting with periorbital edema.Juvenile dermatomyositis is a rare disease that affects the skin and muscles. It often presents with a classic heliotrope eyelid rash. We present a case of juvenile dermatomyositis presenting with significant bilateral periorbital edema, with its complete resolution after systemic antiinflammatory therapy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/9. orbital cellulitis due to mucormycosis. A case report.A case of orbital cellulitis caused by mucormycosis developed in a patient subsequent to cataract extraction and during systemic steroid treatment for postoperative complications. Fatal mucormycosis is a rare disease usually beginning with a subcutaneous inflammatory lesion. As the subsequent development of orbital cellulitis is very rare, little has been published on this subject. In cases of subcutaneous mucormycosis, the diagnosis can easily be made by means of histologic examination of the lesion. However, early diagnosis is difficult in cases with orbital involvement, because the most common cause of orbital cellulitis is bacterial. Thus, orbital cellulitis caused by mucormycosis is often wrongly treated with antibacterial agents only, as histologic examination is neither easy nor part of any routine investigation. Therefore, a combined treatment using antibiotics and antifungal agents in immunusuppressed patients with this disease is advocated.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/9. Orbital hydatid cysts: sonographic and CT appearance.Two cases of unilateral proptosis due to orbital hydatid cysts were evaluated by ultrasound and computed tomography. Image morphology of this rare disease is presented.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/9. Intraorbital extraocular tuberculosis: a report of three cases.Intraorbital extraocular tuberculosis is a rare disease. We have recently treated three cases with a good outcome. This article discusses the clinical radiologic and operative features that we encountered. tuberculosis disease should be considered as one of the differential diagnosis of intraorbital extraocular space-occupying lesions in india.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/9. Langerhans cell histiocytosis with orbital involvement.PURPOSE: To review three cases of Langerhans cell histiocytosis with orbital involvement that represent a significantly excessive incidence of this rare disease in one community. Current diagnostic criteria and therapeutic modalities related to Langerhans cell histiocytosis are reviewed. methods: case reports. We present clinical, radiologic, histopathologic, and epidemiologic information on three patients with Langerhans cell histiocytosis. RESULTS: All three children, born within 18 months of one another, manifested rapidly progressive unilateral proptosis at age 2 years. By computed tomography, all had moderately enhancing lesions with involvement of the sphenoid bone and lateral orbit as well as the temporal lobe of the brain. All patients were treated with a combination of vincristine and prednisone, with variable resolution of their lesions. The occurrence of three cases in children born in Nogales, arizona/ mexico, suggests an incidence rate of 40 per million, which is approximately 26 times the expected rate (P = .0001). CONCLUSIONS: The extraordinarily high incidence and the concentration of cases in both time and space of this cluster implies that Langerhans cell histiocytosis may be a sentinel disease for unusual environmental exposures.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |