Cases reported "Rare Diseases"

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1/20. Very severe aplastic anemia appearing after thymectomy.

    Aplastic anemia is a rare complication of thymoma and is extremely infrequent after thymectomy. We present a case of a 60-year-old woman with very severe aplastic anemia appearing sixteen months after thymectomy for a thymoma. She underwent thymectomy for a thymoma in April 2000. Preoperative examination revealed no hematologic abnormality. About sixteen months after the operation, she was readmitted because of pancytopenia with cough and fever. bone marrow aspiration revealed a very severe hypoplasia in all the three cell lines with over 80% fatty tissue, and chest CT revealed no recurrence of thymoma. Her aplastic anemia had responded to cyclosporine A and granulocyte-colony stimulating factor (G-CSF).
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2/20. lipomatosis of the parotid gland in children.

    Parotid lipomatosis is extremely rare in children. Only 4 cases have previously been reported in the English language medical literature. Surgical excision is frequently complicated by recurrence. We report, a fifth case, on a 5-month-old girl with rapidly progressive parotid lipomatosis. Emphasis is laid on the importance of preserving the unusually delicate tumor capsule to prevent tissue spillage and recurrence. The creation of an appropriate cleavage between the mass and the expanded skin with sparse subcutaneous fat, safeguarding the tumor capsule on one side and the skin blood supply on the other, represents a rewarding technical challenge.
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3/20. Tracheal agenesis: a case report.

    Tracheal agenesis is a rare congenital anomaly and typically has fatal consequences. Associated congenital malformations are present in 90 per cent of cases, most frequently affecting the cardiovascular or gastrointestinal systems and the genitourinary tract. Affected infants lack prenatal symptoms and usually present with severe respiratory distress, absence of audible crying and difficult or impossible endotracheal intubation, leading to failed airway management and irreversible cerebral hypoxia. The authors report an infant with tracheal agenesis who presented with respiratory failure after birth. The clinical features, embryology and classification schemes are presented in the hope of increasing awareness, thus making earlier diagnosis possible and thereby improving survival.
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4/20. Dercum's disease (adiposis dolorosa): a new case-report.

    Dercum's disease, or adiposa dolorosa, is a rare condition characterized by the development of multiple painful subcutaneous lipomas. Postmenopausal women are selectively affected. The ankle area is an uncommon site of involvement. We report a case with lipomas about the ankle, and we review the relevant literature. CASE-REPORT: This 46-year-old perimenopausal woman receiving follow-up for depression presented in December 1997 for swelling and mechanical pain in the right ankle. Lumps behind and under the malleoli were removed surgically and found to have the typical histological features of lipomas. In January 2000, a lump developed behind and under the malleoli of the left ankle, and the lumps on the right recurred. The physical examination showed obesity, with a body mass index of 32.04 kg/m(2). Firm, mobile, painless lumps were felt under and behind the malleoli on both sides. The ankles were painful, although range of motion was normal. Examination of the back found two similar lumps. The erythrocyte sedimentation rate was 10 mm/h and the c-reactive protein level was 6 mg/l. serum lipid levels were normal. Findings were normal from plain radiographs of the ankles. Ultrasound scanning of the ankles confirmed that the lumps were composed of adipose tissue. magnetic resonance imaging visualized an arc-shaped lipomatous mass on the left. Whole-body bone density measurement found an increase in fat mass of the lower limbs with normal bone mass. The ankle lipomas were removed surgically. At last follow-up 18 months later, she was free of recurrence. DISCUSSION: Dercum's disease is a rare condition of unknown etiology characterized by multiple, often painful lipomas. paresthesia in the overlying skin is common. Lipomas about the joints cause mechanical arthralgia. The diagnosis, which is often delayed, rests on ultrasonography and, above all, magnetic resonance imaging. A combination of medications, surgery, and psychiatric care is usually needed. The treatment aims at relieving the pain and restoring a normal appearance.
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keywords = adipose, fat
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5/20. Recognizing and treating methemoglobinemia: a rare but dangerous complication of topical anesthetic or nitrate overdose.

    methemoglobinemia is a rare but dangerous complication of topical anesthetic overdose administration or exposure to nitrate-containing substances in the hospital or community. Paradoxically, although the patient may present with cyanosis with low oxygen saturation levels, they will not respond to oxygen therapy. Treatment is slow intravenous administration of a titrated dose of methylene blue. adult and pediatric critical care nurses and respiratory therapists, operating room and procedure/diagnostic center nurses, short-stay or outpatient surgery center staff, and adult and pediatric emergency department nurses and respiratory therapists need to be aware of this potentially fatal condition.
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6/20. Biatrial myxoma: rare incidence in cardiac surgery.

    A myxoma is a rare, usually noncancerous primary tumour of the heart. It is the most common benign cardiac tumour in adults, yet has a very low incidence in the cardiac surgery population, representing less than 1% of all cases. Biatrial myxomas are extremely rare, comprising only 2.5% of cardiac myxomas. Myxomas can be fatal due to embolic events or sudden death, however, prognosis after surgery is extremely good. The challenge for health care professionals is early recognition, diagnosis and treatment to prevent life-threatening events. This case presentation describes a gentleman with biatrial myxomas, and further discussion reviews the location, epidemiology, pathology, clinical presentation, assessment, diagnosis, and treatment aspects of cardiac myxomas. Since myxomas are a rare occurrence in cardiac surgery, it is hoped that this report may increase awareness and enhance cardiovascular nurses' understanding and knowledge in caring for the myxoma patient.
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7/20. amyloidosis of the endometrium: an asymptomatic presentation.

    BACKGROUND: amyloidosis of the endometrium is a rare occurrence according to current literature. Previously reported cases have presented with menorrhagia or postmenopausal bleeding. CASE: A postmenopausal woman with multiple medical problems presented with fatigue and weight loss. During the evaluation for her 18-kg weight loss, a computed tomography scan revealed an enlarged uterus and liver lesions. Endometrial and liver biopsies were performed secondary to concern over metastatic cancer, given an enlarged uterus in a postmenopausal woman with liver masses. She was found to have systemic primary amyloidosis in multiple organs, including her endometrium. CONCLUSION: This patient represents an interesting case of systemic amyloidosis involving the endometrium that is not associated with vaginal bleeding. The presence of amyloid in the endometrium may be more common than currently recognized, because patients without vaginal bleeding are not routinely evaluated for amyloid deposition in their reproductive organs.
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8/20. Behcet disease complicated by diffuse alveolar damage.

    We report an extremely rare case of Behcet disease complicated by diffuse alveolar damage, which was fatal in this patient. It manifested as progressive diffuse ground-glass attenuation in both lungs on chest radiographs and high-resolution CT. Ground-glass attenuation was confirmed histopathologically as diffuse alveolar damage without identified etiology by open lung biopsy.
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9/20. Pulmonary capillary hemangiomatosis: multidetector row CT findings and clinico-pathologic correlation.

    Pulmonary capillary hemangiomatosis (PCH) is a rare potentially fatal cause of post-capillary pulmonary hypertension. We present a case demonstrating the CT imaging features of the underlying capillary proliferation and invasion of alveoli and vasculature.
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10/20. Calcifications in untreated Burkitt's lymphoma of the upper jaw.

    BACKGROUND: Dystrophic calcifications are uncommon in lymphomas. They may occur after chemotherapy or radiotherapy, whereas calcifications in untreated non- Hodgkin's lymphomas are rarely reported in the literature. CASE REPORT: We report the case of a 9-year-old boy who developed tumefaction of the right upper jaw. CT examination revealed a neoplastic lesion in the right upper jaw sinus with destruction of the maxilla and subcutaneous fat infiltration. Furthermore the tumor showed accentuated central calcifications. Histological examination revealed endemic type of Burkitt's lymphoma of the paranasal sinus. CONCLUSION: Our experience showed that calcification can rarely occur also in untreated Burkitt's lymphoma.
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