Cases reported "Rare Diseases"

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1/18. Noncompaction of the ventricular myocardium: report of two cases with bicuspid aortic valve demonstrating poor prognosis and with prominent right ventricular involvement.

    Noncompaction of the ventricular myocardium is a rare, unclassified cardiomyopathy due to an arrest of myocardial morphogenesis. The characteristic echocardiographic findings consist of multiple, prominent myocardial trabeculations and deep intertrabecular spaces communicating with the left ventricular (LV) cavity. The disease typically involves the LV myocardium, but right ventricular (RV) involvement is not uncommon. The clinical manifestations include heart failure (HF) signs, ventricular arrhythmias and cardioembolic events. Noncompacted myocardium may occur as an isolated cardiac lesion, as well as it can be in association with congenital anomalies. We describe two illustrative cases of noncompaction of the ventricular myocardium, a 19-year-old male with bicuspid aortic valve and progressive worsening of HF, and a 61-year-old male with marked RV involvement in addition to LV apical involvement, both with the typical clinical and echocardiographic features of the disease.
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2/18. Suppurative thyroiditis with gas formation.

    Acute suppurative thyroiditis with gas formation is very rare. A 70-year-old woman was admitted with dysphagia and fever. The clinical diagnosis of acute thyroiditis was supported by fine needle aspiration biopsy. X-ray examination showed gas collection within the soft tissue of the anterior neck and ultrasonography of the thyroid gland showed a cavity filled with thick liquid. The patient was treated with antibiotic therapy followed by thyroidectomy.
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3/18. Follicular dendritic cell sarcoma of the tonsil: report of a rare case.

    Follicular dendritic cell tumors are extremely rare. Only 17 cases have been previously described in the literature, and only three of them involved primary tumours of the oral cavity. We describe a new case of the latter, which occurred in a 51-year-old man who sought evaluation for a painless enlargement of his left palatine tonsil. The tonsil was excised, and histologic examination revealed that the tumor was a primary sarcoma that had arisen from the dendritic reticulum cells of the palatine tonsil. Postoperatively, the tumor site was treated with percutaneous irradiation (total dose: 70 Gy). After more than 5 years of follow-up, the patient showed no evidence of recurrence. We also discuss the salient features of the immunohistochemical examination.
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ranking = 4.6159764975105
keywords = oral cavity, cavity
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4/18. Huge lymphangioma of the tongue: a case report.

    lymphangioma of the tongue is relatively rare and may cause facial structural deformity. Using a combination of a V-shaped and central resection, we successfully treated a 6-year-old girl who had massive lymphangioma of the tongue. Postoperatively, her tongue was located completely within her mouth with good cosmetic results. Sensory and motor nerves to the tongue appeared to be intact. Her speech was also improved.
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ranking = 0.2198667612921
keywords = mouth
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5/18. chondroblastoma of the distal femur. A case report.

    The authors report a case of chondroblastoma which was localised in the distal femoral epiphysis in a 16-year-old boy. The lesion was large, rapidly expanding and extended into the knee joint. After diagnostic evaluation including tru-cut biopsy, the lesion was treated surgically with curettage and grafting with coralline hydroxyapatite. Four months after surgery the patient had no pain and had nearly full range of motion of the left knee. He was followed up for thirty-five months with routine radiographs and physical examination. He had no recurrence, no pain, and regained full range of motion of his knee. Most chondroblastomas involve the medullary cavity; they may rarely involve the cortex but to the best of our knowledge, no cases with soft tissue involvement have been reported in the literature.
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6/18. Massive intrapericardial herniation of stomach following pericardial window.

    Herniation of intra-abdominal contents into the pericardial cavity is rare. We describe one such case occurring after creation of a pericardioperitoneal window for drainage of a pericardial effusion. The diagnosis of an intrapericardial hernia should be considered in patients presenting with gastrointestinal and/or cardiorespiratory symptoms following surgical procedures involving the diaphragm.
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7/18. Three-dimensional ultrasonographic findings of the rare chromosomal abnormality 48, XXY/ 18: a case report.

    The 48, XXY/ 18 is a very rare aneuploidy syndrome which combines the aberration in both autosome and sex chromosome. The authors report a case diagnosed prenatally by lymphocyte culture from fetal blood samples following cordocentesis, 2-dimensional (2DUS) and 3-dimensional ultrasonography (3DUS). At 33 1/7 weeks gestation in an ultrasound examination by indication large for date; single umbilical artery with absence of the left umbilical artery, polyhydramnios and fetal growth restriction were demonstrated. The fetus presented with microcephaly, prominent occiput, low-set ears, micrognathia, hypertelorism, small mouth, bilateral club hands with overlapping fingers, rocker-bottom feet. karyotyping from the cordocentesis led to the diagnosis of 48, XXY/ 18, which was confirmed by the chromosomal analysis of the umbilical cord blood after the baby was born. This is the first reported case of the very rare aneuploidy syndrome in the literature.
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ranking = 0.2198667612921
keywords = mouth
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8/18. Solitary fibrous tumor of the liver with presenting symptoms of hypoglycemic coma.

    We report a patient with solitary fibrous tumor of the liver, a rare fibrous neoplasm which to our knowledge has been reported in only 21 patients in the English literature. Most frequently, solitary fibrous tumors arise in the thoracic cavity, particularly in the pleura. hypoglycemia has rarely been associated with these mesenchymal tumors. The presentation of this patient with hypoglycemic coma without preceding symptomatology, to our knowledge, has never been reported.
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keywords = cavity
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9/18. Spontaneous gall bladder perforation: a rare entity in infants.

    Spontaneous gall bladder perforation in infants is rare. We report a 3-month-old male infant who presented with progressive abdominal distension, low-grade fever, bilateral hydrocele and acholic stools. ultrasonography showed free fluid in the peritoneal cavity, which was bile-stained on paracentesis. Surgical exploration revealed sterile biliary peritonitis and a gangrenous gall bladder. Partial cholecystectomy with external biliary drainage resulted in satisfactory recovery.
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keywords = cavity
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10/18. Osteolipoma: a rare lesion in the oral cavity.

    We present the case of a 65-year-old woman who had a painless mass in the left buccal mucosa. histology showed a benign osteolipoma.
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ranking = 18.463905990042
keywords = oral cavity, cavity
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