Cases reported "rare diseases"

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1/477. Adenoma of the nipple in an adolescent.

    We recently treated a 14-year-old girl with a clinically and histologically diagnosed with adenoma of the nipple. Enucleation of a mass preserving the nipple was successfully performed. Adenoma of the nipple is a rare disease which is often mistaken clinically for Paget's disease. About 200 cases of the tumors have been reported worldwide so far. The most common symptom is erosion of the nipple and nipple discharge. Our case had erosion of the nipple but no discharge. Adenoma of the nipple is a benign lesion which can be successfully treated by a simple surgery. ( info)

2/477. A case of neurilemmoma of the breast.

    neurilemmoma of the breast is rarely seen, although it is common at intracranial or peripheral sites. There have been only 14 cases described in the literature. We present the fifteenth case of a 64-year-old woman with neurilemmoma of the breast, the first to be diagnosed by fine needle aspiration cytology. fibroadenoma must be distinguished from this tumor. Complete removal is the treatment of choice, considering the possibility of local recurrence and malignant change. ( info)

3/477. Pulmonary alveolar microlithiasis after Varicella zoster infection in a patient presenting with antiphospholipid syndrome and discoid lupus.

    We present a case with diagnosis of pulmonary alveolar microlithiasis that illustrates the appearance of this rare chronic lung disease on conventional chest X-ray, high-resolution CT, and transbronchial lung biopsy. This is the first case reported which developed pulmonary alveolar microlithiasis after Varicella zoster infection in a patient with antiphospholipid antibodies and discoid lupus. ( info)

4/477. Constrictive pericarditis caused by candida glabrata in an immunocompetent patient: case report and review of literature.

    Candida pericarditis is a rare disease described mostly in patients with recent cardiothoracic surgery or debilitating chronic diseases and is generally considered to be associated with high mortality. To our knowledge, we report the first case of Candida pericarditis in a healthy host who had not undergone thoracic surgery and the first documented case and cure of pericarditis caused by C. glabrata. The most probable underlying factor in the development of this pericarditis was the abdominal surgery the patient underwent to correct a gastrogastric fistula, without an intraabdominal leak, which developed 10 y after surgical gastric stapling for weight reduction. The literature on Candida pericarditis is reviewed. If Candida pericarditis is diagnosed early and treated with a combined medical and surgical approach, the prognosis today is much more favorable than that previously reported. ( info)

5/477. Unusual phenotypic observations associated with a rare HbH disease genotype (- -Med/alphaTSaudialpha): implications for clinical management.

    A single patient with a rare Haemoglobin H (HbH) disease genotype (- -Med/alphaTSaudialpha) was observed to have exceptionally high levels of HbH (> 60%) and paradoxically high total haemoglobin levels. Studies of haematological parameters, blood biochemistry and oxygen transport properties revealed a severe functional anaemia, associated with marked erythropoietic stimulation and a markedly raised cardiac output. This rare case illustrates the complexity of interactions that may be associated with the clinical course of HbH disease, highlighting that haematological parameters alone may lead to spurious evaluation of clinical status. Issues related to the therapeutic management of unusual cases are raised. ( info)

6/477. Coil embolization therapy in congenital coronary arterial fistulas.

    Three pediatric patients (8.5 years, 3 years, and 1 month) presented with congenital coronary arterial fistulas. In all cases the fistulas entered into the right side of the heart (main pulmonary artery, n = 1; right ventricle, n = 2). In the first patient, the fistula and an open ductus arteriosus were closed during the same intervention. The second patient presented with a single left coronary ostium and residual shunt from the coronary artery system to the right ventricle after surgery. The third child had pulmonary atresia with intact ventricular septum and a fistula from the left coronary artery to the right ventricle. The fistulas in all patients were managed with coil occlusion. fistula occlusion was documented with angiocardiography. ( info)

7/477. The abdominal cocoon: a case report.

    The abdominal cocoon is a rare disease that is characterized by a total or partial encasement of the small bowel by a thick and fibrotic membrane. Thirty-five cases were reported since it was first described. It occurs primarily in females. Preoperative diagnosis is a matter of challenge and usually made at laparotomy. We report a patient with partial intestinal obstruction and abdominal cocoon which was diagnosed peri-operatively. We review the literature and discuss the etiology of this disease. ( info)

8/477. Lipoid proteinosis of the larynx.

    Lipoid proteinosis is a rare disease that presents with hyaline deposits in many tissues. It involves predominantly the skin and upper aerodigestive tract, presenting with small yellowish papules and hoarseness. It may involve the central nervous system and cause intracerebral calcifications. Laryngeal lesions may resemble singer's nodule or chronic laryngitis. The pathogenesis of the disease is not clear although several studies suggest a defective collagen production and/or lysosomal storage disease. In this article two cases with skin and larynx involvement are reported. ( info)

9/477. First place winner. Recurrent febrile seizures: an unusual presentation of nutritional rickets.

    Nutritional rickets is a serious disease that is infrequently encountered in the united states today because of the fortification of infant formulas and dairy products with vitamin d. We report a case of undiagnosed nutritional rickets presenting with recurrent febrile seizures. Febrile seizures, a common and usually benign presenting complaint, are not among the symptoms generally known to be associated with rickets. Therefore, the disease was uncovered only after a careful history and physical examination prompted a more thorough investigation into an underlying cause for recurrent seizures. The diagnosis was subsequently confirmed by quantitative laboratory testing. We review the historical and cultural factors, symptoms, and physical findings suggestive of this potentially serious yet easily treatable disease. ( info)

10/477. Fixed subtalar subluxation in a pediatric patient: an unusual entity.

    Atraumatic, fixed subluxation of the subtalar joint in the pediatric population has not been described. This report describes such a case in a skeletally immature boy. ( info)
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