Lymphangioleiomyomatosis (LAM) is a rare disease usually occurring in young women of child-bearing age. It is characterized by a distinctive proliferation of lymphatic smooth muscle cells, especially occurring in the pulmonary parenchyme. The majority of primary LAM occurs in the lung, but there are a few reports of extrapulmonary cases. We report a case of a 21-yr-old female who first complained of low abdominal pain and was referred from a local clinic with the impression of an ovarian cyst. Gynecologic ultrasonography revealed a large posterior pelvic mass with an irregular echogenicity measuring 9.7x4.2 cm in size. Pelviscopy showed a large, thin walled, partly cystic, pelvic mass. The mass was partly removed. Microscopically, the mass was characterized by a haphazard proliferation of smooth muscle cells arranged in fascicular, trabecular, and papillary patterns around a ramifying network of endothelium-lined spaces. The cells were plump or epithelioid with abundant eosinophilic cytoplasm and showed a positive reaction for both alpha-smooth muscle actin and HMB-45 antigen. Surgical and pathological findings were consistent with pelvic retroperitoneal LAM. Despite the numerous treatment attempts, the patient suffered from intractable chylous ascites and developed pulmonary LAM and died due to severe respiratory distress.
Abdominal Pain/diagnosis/etiology ; Adult ; Diagnosis, Differential ; Female ; Humans ; Lung Neoplasms/complications/*diagnosis ; Lymphangioleiomyomatosis/complications/*diagnosis ; Pelvic Neoplasms/complications/*diagnosis ; Rare Diseases/complications/diagnosis

Chronic invasive fungal sinusitis is a relatively rare disease that can span from months to years in its clinical course and is described to be more common in immunocompetent patients. Most cases of chronic invasive fungal sinusitis are due to the Aspergillus species and have been treated with a combination of surgery and antifungal agents. However, the incidence is increasing with frequent use of antibiotics, cytotoxic drugs, and systemic corticosteroids. We report a case of chronic invasive fungal sinusitis with orbital complication in the patient who underwent endoscopic sinus surgery for chronic rhinosinusitis. Although chronic invasive fungal sinusitis is relatively rare, it is important for otolaryngologists to be aware of its diagnosis and treatment.
Adrenal Cortex Hormones ; Antibiotics, Antineoplastic ; Antifungal Agents ; Aspergillosis ; Aspergillus ; Diagnosis ; Endoscopy ; Fungi ; Humans ; Incidence ; Orbit ; Postoperative Complications ; Rare Diseases ; Sinusitis*

The association of intramuscular myxoma and fibrous dysplasia is a rare disease known as Mazabraud's syndrome. We present a case of Mazabraud's syndrome coexisting with a uterine tumor and resembling an ovarian sex cord tumor (UTROSCT). This uterine tumor showed a high mitotic index and cytological atypia. To the best of our knowledge, the coexistence of the two different entities has not been reported in the literature.
Aged ; Biopsy ; Buttocks/pathology/surgery/ultrasonography ; Diagnosis, Differential ; Female ; Fibrous Dysplasia, Monostotic/complications/*diagnosis/surgery ; Humans ; Magnetic Resonance Imaging ; Myxoma/complications/*diagnosis/surgery ; Ovarian Neoplasms/*diagnosis ; Rare Diseases ; Sex Cord-Gonadal Stromal Tumors/*diagnosis ; Syndrome ; Uterine Neoplasms/complications/*diagnosis/surgery

Adult ; Asian Continental Ancestry Group ; Biopsy, Needle ; Disease Progression ; Erythema ; complications ; physiopathology ; Female ; Foot Dermatoses ; complications ; diagnosis ; pathology ; Hand Dermatoses ; complications ; diagnosis ; pathology ; Humans ; Immunohistochemistry ; Pemphigus ; diagnosis ; pathology ; Prognosis ; Pruritus ; complications ; physiopathology ; Rare Diseases ; Singapore ; Syndrome

No abstract available.
Chronic Disease ; Cryopyrin-Associated Periodic Syndromes/*complications/diagnosis ; Gonioscopy ; Humans ; *Intraocular Pressure ; Male ; Microscopy, Acoustic ; Middle Aged ; Ocular Hypertension/diagnosis/*etiology/physiopathology ; Rare Diseases

Apgar Score ; Autopsy ; Fatal Outcome ; Heart Neoplasms ; diagnosis ; diagnostic imaging ; pathology ; Heart Ventricles ; diagnostic imaging ; Humans ; Infant, Newborn ; Male ; Myxoma ; complications ; diagnosis ; diagnostic imaging ; pathology ; Rare Diseases ; Ultrasonography

The pathogenic mechanism of focal segmental glomerulosclerosis (FSGS) and aplastic anemia are associated with immunologic events which lead to glomerular cell injury or hematopoietic cell destruction. We present an extremely rare case of FSGS with aplastic anemia in a 30-yr-old woman. The laboratory examination show-ed hemoglobin 7.2 g/dL, white blood count of 4,200/microliter, platelet count 70,900/microliter. Proteinuria (2+, 3.6 g/day) and microscopic hematuria were detected in urinalysis. The diagnosis of FSGS and aplastic anemia were confirmed by renal and bone marrow biopsy. She was treated with immunosuppressive therapy of prednisone 60 mg/day orally for 8 weeks and cyclosporine A 15 mg/kg/day orally. She responded with gradually improving her clinical manifestation and increasing peripheral blood cell counts. Prednisone was maintained at the adequate doses with tapering after 8 weeks and cyclosporine was given to achieve trough serum levels of 100-200 ng/mL. At review ten month after diagnosis and initial therapy, the patient was feeling well and her blood cell counts increased to near normal (Hb 9.5 g/dL, Hct 32%, WBC 8,300/microliter, platelet 123,000/microliter) and renal function maintains stable with normal range proteinuria (0.25 g/day).
Adult ; Anemia, Aplastic/*complications/*diagnosis/drug therapy ; Cyclosporine/administration & dosage ; Female ; Glomerulosclerosis, Focal/*complications/*diagnosis/drug therapy ; Humans ; Immunosuppressive Agents/administration & dosage ; Prednisone/administration & dosage ; Rare Diseases/complications/diagnosis/therapy ; Research Support, Non-U.S. Gov't ; Treatment Outcome

PURPOSE: Islet cell tumors are a rare disease that can be cured by surgical management if they are early diagnosed. However, diagnosis and localization are difficult due to their small size and varied clinical manifestations. We analyzed the clinicopathologic features, the diagnosis and the surgical management of islet cell tumors. METHODS: We retrospectively analyzed the case histories of 30 patients had undergone pancreatic surgery for islet cell tumors between April 1990 and December 1999. RESULTS: The islet-cell tumors included 16 insulinomas, 4 gastrinomas, 1 glucagonoma, one insulin-gastrin secreting tumor, and 8 nonfunctioning tumors. The major clinical manifestations were neuroglycopenic (94%) and adrenergic (75%) symptoms in cases of an insulinoma, abdominal ulcer symptoms (100%) in the cases of a gastrinoma, diabetis mellitus (100%) in the cases of a glucagonoma, and abdominal pain (63%) and a mass (25%) in nonfunctioning tumor. The preoperative tumor localization tools were angiography, transhepatic portal vein sampling, endoscopic ultrasonography, computed tomography, and octreotide scans which had sensitivities of 56%, 71%, 55.5%, 43.3%, and, 25% respectively. The surgical treatments were enucleation (38%) or segmental resection (25%) for insulinomas, pancreaticoduodenectomy with total gastrectomy (25%) or total pancreatectomy (25%) for gastrinomas, and pylorus preserving pancre aticoduodenectomy (38%) or regional pancreatectomy (26%) for nonfunctioning tumors. Malignant islet cell tumors were presenting cases (30%). Two patients died with postoperative complications on post operative day 3 and 35; the others survived during the follow-up period (1 month-10 years). Islet cell tumors with multiple endocrine neoplasm type I occurred in five (17%) cases; in three cases, the tumors were malignant. CONCLUSION: The early diagnosis and vigorous attempt to resect the lesion in islet cell tumors of the pancreas should be carried out for the long-term survival.
Abdominal Pain ; Adenoma, Islet Cell* ; Angiography ; Diagnosis ; Early Diagnosis ; Endosonography ; Follow-Up Studies ; Gastrectomy ; Gastrinoma ; Glucagonoma ; Humans ; Insulinoma ; Islets of Langerhans* ; Octreotide ; Pancreas* ; Pancreatectomy ; Pancreaticoduodenectomy ; Portal Vein ; Postoperative Complications ; Pylorus ; Rare Diseases ; Retrospective Studies ; Ulcer

Mesenteric lymphangiomas are rare abdominal masses that are seldom associated with small bowel volvulus, and especially in adult patients. We report here on an unusual case of small bowel volvulus that was induced by a mesenteric lymphangioma in a 43-year-old man who suffered from repeated bouts of abdominal pain. At multidetector CT, we noticed whirling of the cystic mesenteric mass and the adjacent small bowel around the superior mesenteric artery. Small bowel volvulus induced by the rotation of the mesenteric lymphangioma was found on exploratory laparotomy. Lymphangioma should be considered as a rare cause of small bowel volvulus in adult patients.
Abdominal Pain/etiology ; Adult ; Contrast Media/diagnostic use ; Diagnosis, Differential ; Humans ; Intestinal Volvulus/*diagnosis/etiology/surgery ; Intestine, Small/*radiography/surgery ; Lymphangioma/*complications/surgery ; Male ; Mesenteric Artery, Superior/*radiography/surgery ; Radiographic Image Enhancement/methods ; Rare Diseases ; Tomography, X-Ray Computed

PURPOSE: Spontaneous pneumomediastinum (SPM) is a rare entity, with only a few cases reported, especially in adolescents. We aimed to analyze the clinical characteristics of SPM in adolescents and the diagnostic implications of computed tomography (CT) and esophagography therein. MATERIALS AND METHODS: This retrospective descriptive study was conducted as a review of medical records of 416 adolescents (10-18 years of age) with chest pain from March 2005 to June 2013. Information on clinical presentation, methods of diagnosis, hospital stay, and outcomes were collected and analyzed. RESULTS: Among adolescents complaining of chest pain, 11 patients had SPM (11/416, 2.64%). All patients presented with pleuritic chest pain, and 54.5% reported neck pain as the most common associated complaint. Clinical findings were nonspecific, and initial chest X-ray assessment was diagnostic only in three of 11 patients. However, reassessment of chest X-ray revealed diagnostic findings of SPM in five of the remaining eight patients. CT was diagnostic in all patients, while esophagography and echocardiogram were uninformative. Symptomatic improvement was noted within 2.45+/-1.2 hours (range, 0.5 to 4) after supportive care; mean hospital stay was 4.54+/-0.99 days (range, 2 to 6). No recurrence was observed. CONCLUSION: SPM is a rare disease that should be considered in adolescent patients with pleuritic chest pain. Careful reading of initial chest X-rays is important to avoiding further unnecessary investigations. SPM is self-limited and treatment is supportive; nevertheless, if there are no indications of esophageal rupture, urgent esophagography is not recommended.
Adolescent ; Analgesics/*therapeutic use ; Chest Pain/diagnosis/*etiology ; Child ; Female ; Follow-Up Studies ; Humans ; Length of Stay ; Male ; Mediastinal Emphysema/complications/*diagnosis/*therapy ; Medical Records ; *Oxygen Inhalation Therapy ; Rare Diseases ; Retrospective Studies ; Risk Factors ; Tomography, X-Ray Computed ; Treatment Outcome