Cases reported "Rare Diseases"

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1/21. granular cell tumor of the mediastinum.

    Mediastinal granular cell tumor is an exceptionally rare tumor; there are only a few previously reported cases. We report a 21-year-old man with a granular cell tumor in the right posterior mediastinum. Chest computed tomography scans and magnetic resonance imaging revealed a 15x20 mm well circumscribed, homogeneous mass, which was closely associated with the vertebral column. The T1-weighted magnetic resonance image showed low intensities, and moderate intensities were found on the T2-weighted magnetic resonance image. Gd-DTPA enhancement was remarkable on the tumor surface. The present case differed from ordinary neurogenic tumors in magnetic resonance imaging findings. Thoracoscopic resection of the tumor was performed. The tumor was associated with the sympathetic nerve. Histologic analysis revealed a benign granular cell tumor.
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2/21. Report of a Turkish child with Sjoren-Larsson syndrome associated with peripheral nerve involvement.

    Sjoren-Larsson syndrome is a rare hereditary neurocutaneous disorder characterized by ichthyosis, spastic di- or tetra-plegia, and mild to moderate mental retardation. In this article, we present a nine-year-old girl with the classical features of the syndrome associated with peripheral nerve involvement because of its rare presentation. To the best of our knowledge, only three cases of Sjoren-Larsson syndrome with peripheral nerve involvement have been previously reported in the literature. We assume that Sjoren-Larsson syndrome involves extensive disorders of the ectodermal tissues, including the peripheral nerves as well as the skin and the central nervous system.
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3/21. 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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4/21. 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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5/21. 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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keywords = block
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6/21. Bilateral naevus of Ota: a rare manifestation in a Caucasian.

    The naevus of Ota (naevus fusculocoeruleus ophthalmomaxillaris) was first described by the Japanese dermatologist M. T. Ota in 1939. It has a reported incidence of 0.2% to 1% in the Japanese population. It usually occurs in the skin innervated by the first or second branch of the trigeminal nerve. The naevus comprises dermal melanocytes and is congenital or acquired during adolescence. Commonly associated lesions include scleral melanocytosis and other ocular manifestations as well as lesions of the tympanic membrane, oral and intranasal mucosa and leptomeninges. Diseases associated with Ota's naevus in rare cases are open-angle glaucomas and melanoma. The naevus of Ota in Europeans is a rare manifestation. We report the very rare case of a bilateral naevus of Ota associated with enoral melanocytosis in a white European person.
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7/21. Limited Wegener's granulomatosis presenting with complete heart block.

    Complete heart block associated with Wegener's granulomatosis (WG) is rare, and has not previously been reported with 'limited' WG. The case of a 36-year-old man who presented with complete heart block due to 'limited' WG [positive cytoplasmic antineutrophil cytoplasmic antibodies (c-ANCA) on indirect immunofluorescence, positive serum antibodies to proteinase-3, and inflammatory sinus disease seen on computerized tomography (CT) without renal or pulmonary involvement] is presented. In addition, a gallium-scan fused with a myocardial perfusion scan and cardiac magnetic resonance imaging (MRI) suggested focal inflammation near the atrioventricular (AV) node.
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keywords = block
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8/21. Rate-dependent left bundle branch block during anaesthesia.

    Rate-dependent left bundle branch block during general anaesthesia is rare. Its occurrence makes electrocardiographic diagnosis of acute myocardial ischaemia or infarction difficult. It can also be confused with a slow rate ventricular tachycardia. We present a case of rate-dependent left bundle branch block in a patient with no previous history of ischaemic heart disease. carotid sinus massage resulted in a decrease in heart rate and reversion to normal sinus rhythm.
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keywords = block
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9/21. Linear congenital Becker nevus.

    Becker nevus is an acquired disorder that usually manifests in late childhood or adolescence as a hyperpigmented hypertrichotic patch usually located on the upper trunk or proximal upper extremities. Only a few cases of congenital and familial Becker nevus have been described. Although the lesions may have various shapes, they consistently have a geographic or blocklike configuration in an irregular fashion; a linear pattern has rarely been reported. We describe a case of linear congenial Becker nevus following Blaschko line that appeared at birth on the right shoulder, with hypertrichosis developing 4 years later.
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keywords = block
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10/21. Primary cerebral angiitis containing marked xanthoma cells with massive intraparenchymal involvement--case report--.

    A 27-year-old woman was referred to our hospital with mild disorientation, bilateral abducens nerve palsy, and mild left hemiparesis. Magnetic resonance (MR) imaging revealed diffuse mass lesions resembling malignant glioma in the right frontal intraparenchymal region, with enhancement of multiple meningeal and intraparenchymal nodules. Partial resection of the frontal lesion was performed. Histological examination revealed that the specimens consisted of brain tissue, with marked perivascular infiltration of histiocytes and sheets of xanthomatous cells. The diagnosis was primary cerebral angiitis containing marked xanthoma cells. Steroid therapy was administered over 1 week. MR imaging showed that the remaining lesions resolved gradually, and had disappeared 2 years after surgery. No neurological symptoms or recurrence of the tumor has been observed during the 6-year period since the operation.
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