1/39. AlphaIFN-induced hematologic and cytogenetic remission in chronic eosinophilic leukemia with t(1;5).Chronic eosinophilic leukemia (CEL) is a myeloproliferative disease characterized by excessive eosinophilic proliferation with clonal cytogenetic abnormalities. The most frequent cytogenetic abnormality is a break in the q 31-35 region of chromosome 5, where genes encoding for IL-3, IL-5 and GM-CSF (all cytokines involved in eosinophilopoiesis) are located. We report the case of a patient with CEL with t(1;5) (q23;q31), who obtained complete hematologic and major cytogenetic response after two years of alpha-interferon (alpha-IFN) therapy. Two other cases of complete response to alpha-IFN are reported in the literature. A trial with alpha-IFN could be considered as front line treatment in this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/39. aged budd-chiari syndrome attributed to chronic deep venous thrombosis with alcoholic liver cirrhosis.budd-chiari syndrome is a rare disease, but there are many known causes. Recent studies showed that it can be an acquired lesion resulting from thrombosis in some elderly patients. We report a 74-year-old man with budd-chiari syndrome attributed to chronic deep venous thrombosis and alcoholic liver cirrhosis. When he was aged 45 years, stasis ulcers of the lower extremities appeared. cerebral infarction and left hemiparesis occurred at age 71. ultrasonography, venacavography, and three-dimensional-magnetic resonance imaging on admission demonstrated total obstruction of the inferior vena cava with several massive thrombi and developed collateral vessels. Although the etiology of the thrombosis remained obscure, we made some speculative assumptions that chronic disseminated intravascular coagulation (which is frequently observed in cirrhosis) or hereditary coagulopathy could be involved, from his familial history of thrombotic phenomena and a severe deficiency of clotting inhibitors. Despite the high mortality of untreated budd-chiari syndrome reported in previous studies, this patient had been alive for about 30 years from the suspected onset.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/39. Chronic recurrent multifocal osteomyelitis associated with chronic inflammatory bowel disease in children.Chronic recurrent multifocal osteomyelitis (CRMO) is a rare disease of children characterized by aseptic inflammation of the long bones and clavicles. No infectious etiology has been identified, and CRMO has been associated with a number of autoimmune diseases (including Wegener's granulomatosis and psoriasis). The relationship between CRMO and inflammatory bowel disease is poorly described. Through an internet bulletin board subscribed to by 500 pediatric gastroenterologists, we identified six inflammatory bowel disease patients (two with ulcerative colitis, four with Crohn's colitis) with confirmed CRMO. In all cases, onset of the bony lesions preceded the onset of bowel symptoms by as much as five years. Immunosuppressive therapy for the bowel disease generally resulted in improvement of the bone inflammation. Chronic recurrent multifocal osteomyelitis should be considered in any inflammatory bowel disease patient with unexplained bone pain or areas of uptake on bone scan. CRMO may be a rare extraintestinal manifestation of inflammatory bowel disease; alternatively, certain individuals may be genetically predisposed to the development of both diseases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/39. Mucinous adenocarcinoma in chronic anorectal fistula.adenocarcinoma in association with chronic anal fistula is a rare disease which gives rise to difficult problems of diagnosis and treatment. A case of mucinous adenocarcinoma arising on a long standing fistula in ano is described. A patient with a long history of mucinous discharge, pain and perianal induration underwent a biopsy of the external opening of the fistula that showed mucinous infiltrating adenocarcinoma. After a colonoscopy and a preoperative abdominal CT scan, she underwent a successful abdominoperineal resection with adjuvant chemoradiation therapy. diagnosis of this condition is often difficult; deep and multiple biopsies of the fistulous tracks or perianal mass are necessary to establish the diagnosis. An accurate staging of the neoplasm, using endorectal ultrasound, NMR or CT scans is needed to plan the appropriate treatment. Recent studies have shown that locally advanced anal adenocarcinomas could benefit from pre or postoperative chemoradiation therapy. However, an accurate and complete removal of the tumor, which usually entails abdominoperineal resection, is often necessary to achieve radicality. Despite new therapy protocols, the prognosis of mucinous adenocarcinoma is still poor, mostly due to its advanced nature at the time of diagnosis. This reinforces the importance of biopsy of all perianal abscesses and fistulas for early detection and treatment.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/39. otitis media as a sign of Wegener's granulomatosis in childhood.Wegener's granulomatosis (WG) is a rare disease among paediatric patients. Chronic otitis media with or without facial nerve dysfunction is a known manifestation of the disease among adults. A case of a 15-year-old boy with WG, whose initial symptoms were acute otitis media and facial nerve paralysis, is presented. The otorhinolaryngological manifestations, as well as diagnostic and current treatment modalities in paediatric patients with WG, are discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/39. Chronic recurrent multifocal osteomyelitis associated with ulcerative colitis: a case report.Chronic recurrent multifocal osteomyelitis (CRMO) is a rare disease of bone first described by Giedion et al in 1972. It is associated with several pathologic processes including psoriasis, palmoplantar pustulosis, and SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis). The only published association of CRMO and Crohn's disease was reported by Bognar et al in 1998. The authors describe the association of CRMO and ulcerative colitis (UC) in a 12-year-old girl. As far as the authors know, this is the first published report of CRMO associated with UC and the second of CRMO associated with inflammatory bowel diseases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/39. A Japanese child with Senior-Loken syndrome.BACKGROUND: Senior-Loken syndrome is a rare disease that combines familial juvenile nephronophthisis with retinitis pigmentosa. We describe the clinical features of a Japanese patient with Senior-Loken syndrome emphasizing the importance of the ophthalmic findings in determining a correct diagnosis. CASE: A 6-year-old Japanese girl had anemia, mental retardation, and poor vision. OBSERVATIONS: Fundus examination and electroretinography revealed that the patient had retinitis pigmentosa. A subsequent percutaneous renal biopsy disclosed chronic tubulointerstitial nephritis. CONCLUSION: The ophthalmic findings in our patient led to the diagnosis of Senior-Loken syndrome. A careful ophthalmic examination was helpful in correctly diagnosing the syndrome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/39. The dermatologist's role in diagnosing a rare disease--male breast cancer.After discussing the rarity of male breast carcinoma, I present the case of a 75-year-old white man who, during an office visit for a second opinion regarding his eczema, was found to have breast cancer. (While examining the patient's integument, I found an inverted nipple and a subareolar mass.) I also discuss the need for dermatologists to emphasize to their patients the importance of complete general skin examinations. This case is, I believe, the first case of invasive primary male breast carcinoma to be reported in the dermatologic literature.- - - - - - - - - - ranking = 4keywords = rare disease (Clic here for more details about this article) |
9/39. Colonic tuberculosis mimicking Crohn's disease: case report.BACKGROUND: Intestinal tuberculosis is a rare disease in western countries, affecting mainly immigrants and immunocompromised patients. Intestinal tuberculosis is a diagnostic challenge, especially when active pulmonary infection is absent. It may mimic many other abdominal diseases. CASE PRESENTATION: Here, we report a case of isolated colonic tuberculosis where the initial diagnostic workup was suggestive of Crohn's disease. Computed tomography findings however, raised the possibility of colonic tuberculosis and the detection of acid-fast bacilli in biopsy specimens confirmed the diagnosis. CONCLUSIONS: In conclusion, this case highlights the need for awareness of intestinal tuberculosis in the differential diagnosis of chronic intestinal disease- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/39. Paraneoplastic limbic encephalitis masquerading as chronic behavioural disturbance in an adolescent girl.AIM: To describe an unusual but treatable cause of behavioural disturbance in adolescence. methods: The case is reported of a 15-y-old girl presenting with acute confusion, memory problems and psychotic symptoms following an 18-mo history of change in personality, school failure and running away from home. A review of the literature is also presented. RESULTS: microbiology, toxicology, computed tomography and magnetic resonance imaging did not show any pathology of the central nervous system. Bilateral ovarian immature teratomas were eventually diagnosed and removed. The rapid improvement in the patient's mental and cognitive functions after corticosteroid treatment and the abnormality shown on the single photon emission computed tomography suggested a diagnosis of paraneoplastic limbic encephalitis. CONCLUSION: Paediatricians and neurologists should be aware of this rare disease entity among the more common conditions of behavioural problems and substance abuse in adolescents.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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