Cases reported "Rare Diseases"

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1/23. 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.
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ranking = 1
keywords = ventricle
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2/23. 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.
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ranking = 0.011991879052028
keywords = cerebral
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3/23. Rhinocerebral mucormycosis: case report.

    Rhinocerebral mucormycosis is a rare, fulminating opportunistic fungal infection caused by a fungus of the order mucorales. These fungi are ubiquitous, subsisting on decaying vegetation and diverse organic material. Although the fungi and spores of mucorales show minimal intrinsic pathogenicity towards normal persons, they can initiate aggressive and fulminating infection in the immune compromised host. Because rhinocerebral mucormycosis occurs infrequently it may pose a diagnostic and therapeutic dilemma for those who are not familiar with its clinical presentation. We present a patient with classical presentation of rhinocerebral mucormycosis involving the paranasal sinuses, the orbit and cranial base who, was treated by a combination of aggressive surgical and medical therapy and subsequently had surgical repair of the oral defect. The purpose of this presentation is to draw attention to the clinical presentation and pathogenesis of rhinocerebral mucormycosis and to emphasise the need for high index of suspicion in its diagnosis and management.
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ranking = 0.095935032416225
keywords = cerebral
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4/23. livedo reticularis in a child with moyamoya disease.

    moyamoya disease is a rare, chronic cerebrovascular occlusive disease of unknown etiology. It is characterized by progressive stenosis of the arteries of the circle of willis leading to an abnormal capillary network and resultant ischemic strokes or cerebral hemorrhages. The association of moyamoya disease with livedo reticularis has been described in a previously reported patient with a factor v Leiden mutation, leading to hypercoagulation. We describe a girl with livedo reticularis and moyamoya disease with extensive cardiovascular malformations, but without a primary coagulopathy.
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ranking = 0.011991879052028
keywords = cerebral
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5/23. Calcified patent ductus arteriosus diagnosed following aortic valve replacement.

    A 71-year-old woman underwent aortic valve replacement for severe, symptomatic aortic stenosis. The left ventricle filled rapidly when the left ventricular vent was switched off and postoperatively she was slow to recover with bilateral pleural effusions. These findings prompted early reinvestigation, initially with echocardiography and subsequently with multi-detector row computed tomography. Using a retrospectively electrocardiographic-gated acquisition, adapted from a noninvasive coronary angiography protocol, a calcified, persistently patent ductus arteriosus was identified as the cause for her perioperative and postoperative condition. The defect has since been closed successfully using a transcatheter technique.
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ranking = 0.33333333333333
keywords = ventricle
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6/23. A rare localization in right-sided endocarditis diagnosed by echocardiography: a case report.

    BACKGROUND: Right-sided endocarditis occurs predominantly in intravenous drug users, patients with pacemakers or central venous lines and with congenital heart diseases. The vast majority of cases involve the tricuspid valve. CASE PRESENTATION: A case of a 31-year-old woman with intravenous drug abuse who had a right-sided vegetation attached to the muscular bundle of the right ventricle is presented. Transthoracic echocardiography revealed a vegetation in the right ventricular outflow tract. Transesophageal echocardiography clearly showed that the 1.8 cm vegetation was not adherent to the pulmonary valve but attached to a muscular bundle. CONCLUSIONS: Our case points to an unusual location of right-sided endocarditis in intravenous drug users. It confirms that TTE remains an easy and highly sensitive first-line examination for the diagnosis of right-sided endocarditis.
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ranking = 0.33333333333333
keywords = ventricle
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7/23. Extramedullary sarcoid lesion mimicking intraspinal tumor.

    BACKGROUND CONTEXT: Spinal sarcoidosis is rare. Most spinal sarcoid lesions are intramedullary, and only three cases of extramedullary sarcoid lesions have been reported. PURPOSE: To describe a case of an extramedullary sarcoid lesion in a patient that did not have systemic involvement and to review the literature of spinal sarcoidosis. STUDY DESIGN/SETTING: Case report and review of the literature. PATIENT SAMPLE: Case report. OUTCOME MEASURES: Report of resolution of symptoms. methods/DESCRIPTION:The patient was a 33-year-old woman who had neck pain and pain radiating to the right scapula area and down the right arm into her hand and wrist. She also complained of numbness, tingling, muscle spasms and tremors, and had difficulty with writing. magnetic resonance imaging showed a mass that was extramedullary in the right lateral aspect of the spinal canal at the level of C5 and extending into the right C5-6 neuroforamen. Admitting diagnosis of neurofibroma was made. The patient underwent C4, C5 and C6 laminoplasty and gross total resection of an intradural extramedullary tumor. The lesion encroached on the neuroforamen on the right side involving the C6 nerve root, was grossly adherent to some of the rootlets and looked like a Schwannoma. Gross total resection of the tumor was performed. Pathological examination of the specimen showed a noncaseating granulomatosis consistent with sarcoid. Postoperative testing did not reveal systemic involvement of sarcoidosis. The patient was treated with corticosteroids. RESULTS: The patient made a satisfactory recovery, returned to work full-time, and had no complaints of neurological symptoms. CONCLUSIONS: An extramedullary sarcoid lesion is rare. Unlike intramedullary sarcoid lesions, it can be totally removed. If no systemic sarcoidosis is present, the patient can have a satisfactory recovery.
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ranking = 0.072235910420093
keywords = foramen
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8/23. 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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ranking = 0.011991879052028
keywords = cerebral
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9/23. Cardioverter defibrillator implantation in a child with isolated noncompaction of the ventricular myocardium and ventricular fibrillation.

    isolated noncompaction of the ventricular myocardium is a rare unclassified cardiomyopathy and is thought to be due to arrest of myocardial morphogenesis. In fetal life, it is characterized by an excessively prominent trabecular meshwork and deep intratrabecular recesses, and occurs in the left ventricle in the absence of structural heart disease. echocardiography provides evidence for the diagnosis. The noncompacted ventricular myocardium may be accompanied by depressed ventricular function, systemic embolism, wolff-parkinson-white syndrome, left bundle branch block, and ventricular arrhythmia. Although onset of symptoms is frequently delayed until adulthood, symptomatic children have a poor prognosis. In this report, we describe a case of 6-year-old girl who had a history of recurrent syncope. Transthoracic echocardiographic examination showed a localized prominent trabeculation and deep intratrabecular recesses at the inferoapical region of the left ventricle. She had several episodes of ventricular fibrillation which was refractory to pharmacological treatment. An implantable cardioverter defibrillator (ICD) was successfully operated three times during follow-up.
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ranking = 0.66666666666667
keywords = ventricle
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10/23. Double-chambered right ventricle associated with mural and pulmonic valve endocarditis: description of a clinical case and review of the literature.

    A double-chambered right ventricle is a relatively uncommon congenital cardiac defect characterized by the presence of anomalous muscle bundles dividing the right ventricle into a high-pressure proximal chamber and a low-pressure distal chamber. This pathology is often wrongly diagnosed in adult patients. We report the first case of a patient with double-chambered right ventricle associated with a mural and pulmonic valve endocarditis caused by streptococcus parasanguis diagnosed with two-dimensional echocardiography. During the course of treatment, the patient suffered from a septic pulmonary embolism, and subsequently required surgical intervention, which confirmed the echocardiographic findings.
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ranking = 2.3333333333333
keywords = ventricle
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