Cases reported "Rhabdomyoma"

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1/310. rhabdomyoma of the hypopharynx and larynx. Report of two cases and a review of the literature.

    Two cases of extracardiac rhabdomyoma are reported in a 54-year-old man with unexplained difficulty in breathing and in a 39-year-old man with a prolonged history of hoarseness. attention is drawn to the necessity of doing hypopharyngo-and laryngoscopy in such cases. One tumour was found in the left vallecula in the hypopharynx and the other on the left vocal cord. The literature and the histological findings in 53 cases are reviewed. It appears that this rare tumour is most frequently found in muscles derived from the pharyngeal arches. A total of 40 cases have been diagnosed during the last decade, and this increase is likely to continue in the future. It may turn out that extra-cardiac rhabdomyoma is not so rare as was first presumed. ( info)

2/310. Dystrophic calcification of the fetal myocardium.

    Intramural cardiac masses were detected antenatally in three fetuses by echocardiography. The masses were initially thought to be rhabdomyomas. All three pregnancies were terminated and histology showed dystrophic calcification in all, with no evidence of tumour. Therefore, dystrophic calcification of the fetal myocardium may have a similar appearance to single or multiple rhabdomyomas. This should be considered when counselling parents after detection of masses in the fetal heart, particularly when considering the risk of associated tuberous sclerosis. ( info)

3/310. Left ventricular rhabdomyoma. A case report.

    BACKGROUND: Cardiac tumours in infancy are rare, with a predominant incidence of rhabdomyoma. Diagnosis can best be obtained by pre-cordial and transoesophageal echocardiography. Because of the tendency for spontaneous regression conservative therapy is generally recommended. A rare indication for surgical treatment is described. methods: Experimental design: case report. Setting: Pediatric cardiology and cardiac surgery in a university hospital. Patient: a case of a rhabdomyoma of the left ventricle is described which was attached to the left ventricular outflow tract and the left coronary cusp of the aortic valve, causing outflow obstruction of the left ventricle. Intervention: the tumour was removed surgically using cardiopulmonary bypass. Measure: achievement of relief of left ventricular outflow obstruction. RESULTS: Immediate and complete relief of the left ventricular outflow tract was achieved with preservation of the aortic valve. The patient recovered well. CONCLUSIONS: Cardiac rhabdomyomas can usually be treated conservatively. Surgical therapy can be successfully applied when rhabdomyoma results in hemodynamic problems or arrhythmias. ( info)

4/310. Multiple rhabdomyomas in monozygotic twins.

    rhabdomyoma is the most frequent primary cardiac tumor seen during infancy. We report multiple rhabdomyomas diagnosed in twins in the neo natal period. To the best of our knowledge, this is the first instance of this happening. ( info)

5/310. Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas.

    tuberous sclerosis (TSC) is a dominantly inherited disorder due to mutations at two gene loci, the TSC1 locus on chromosome 9q34 and the TSC2 locus on chromosome 16p13.3. The TSC2 and the TSC1 genes have now been cloned, enabling mutation analysis. We report results of mutation analysis in a sporadic case of TSC first identified in intra-uterine life on the basis of the presence of cardiac rhabdomyomas. Postnatally this infant was also found to have subependymal nodules on brain computed tomographic scan. Hypomelanotic macules were not detected neonatally or at 12 months of age. The specific TSC1 exon 15 mutation found in our patient has not previously been reported in cases of TSC. This mutation involves duplication of a 23-bp segment of dna between two 9-bp repeated sequence elements within exon 15. These repeat elements are located between nucleotides 1892-1900 and between nucleotides 1915-1923 within the TSC1 gene sequence. It is likely that the presence of these two repeated elements predisposes to misalignment of dna strands and unequal crossing over. The mechanism of origin of rhabdomyomas in TSC is reviewed. loss of heterozygosity in the TSC gene regions has been reported in cardiac rhabdomyomas; however, these lesions are self-limiting in their growth. The basis for this self limiting proliferation is not clear. One interesting postulation is that cardiac rhabdomyomas may be due to delay or failure of apoptosis which occurs as part of the normal remodeling process in the heart. ( info)

6/310. tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.

    A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY, 21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents. ( info)

7/310. Spectrum of cystic variants of Wilm's tumour: cystic nephroma (multilocular cyst) and cystic partially differentiated nephroma--a report of four cases.

    Two cases of cystic nephroma (multilocular cyst of the kidney), and one case each of cystic partially differentiated nephroblastoma (CPDN) and rhabdomyomatous Wilms' tumour are described. All were male and in the pediatric age group. Grossly tumours were unilateral, unicentric and multiloculated. The need for proper designation of these lesions is highlighted because of difference in the treatment and prognosis of these tumours. ( info)

8/310. rhabdomyoma of the true vocal fold.

    Rhabdomyomas of the larynx are exceedingly rare. The incidence, sites of occurrence in the larynx, and treatment of these benign striated muscle tumors are reviewed. A case of rhabdomyoma involving the vocalis muscle is presented with magnetic resonance imaging and video-stroboscopic documentation. ( info)

9/310. Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis.

    We report a newborn, diagnosed prenatally with both cardiac rhabdomyomas and a brain tumor. To the best of our knowledge, this is the first report of central nervous system (CNS) lesions detected prenatally in a child with tuberous sclerosis with term follow-up. At 36 months, the child has normal growth and is developing appropriately. Thus the finding of CNS tumors on fetal ultrasound examination can help in the prenatal diagnosis of tuberous sclerosis but does not necessarily indicate a poor prognosis. ( info)

10/310. Bilateral recurrent adult rhabdomyomas of the pharyngeal wall.

    adult rhabdomyomas of the head and neck are uncommon benign skeletal muscle tumors. Only a few cases occurring in the pharyngeal wall have been described in the world literature. We present a case of recurrent bilateral rhabdomyomas in the pharynx and discuss the clinicopathological features of this lesion, comparing it to those of other neoplasms from which it must be differentiated. To our knowledge, bilaterality of this type of lesion has not been described previously. Although adult rhabdomyomas have a distinct histology, they often are mistaken for a variety of other lesions, particularly granular cell tumor. ( info)
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