• Clinical and Experimental Pediatrics
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• v.51 no.7
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• pp.766-770
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• 2008

Primary tumors of the heart are uncommon among pediatric patients. Rhabdomyoma is the most frequent cardiac tumor in infants and children, which is commonly associated with tuberous sclerosis. Tuberous sclerosis is a neurocutaneous syndrome affecting the brain, heart, skin, and other organs. Cardiac rhadomyomas are reported in 50-64% of infants with tuberous sclerosis. Tuberous sclerosis involves multiple locations in the atrium, ventricle and septum, and may induce mechanical obstruction of the outflow tract and heart failure depending on the location, number, size, and degree of invasion of tumors. Arrhythmias may also develop in infants with cardiac rhadomyomas, but only a few of these patients require prolonged anti-arrhythmic therapy because arrhythmia often disappears with spontaneous regression of the tumors, and the ultimate prognosis may be decided by the cerebral manifestations.

• Tuberculosis and Respiratory Diseases
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• v.44 no.5
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• pp.1184-1193
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• 1997

Lymphangioleiomyomatosis(LAM) is rare and essentially limited to women in the reproductive ages. A 39-year-old female was admitted due to progressive exertional dyspnea and intermittent productive cough. Chest PA showed marked hyperinflation of the lung associated with a diffuse reticulo-nodular pattern. High resolution CT scan of the thorax demonstrated that diffusely scattered thin-walled cysts were distributed throughout the bilateral lung fields. Abdominal CT scan showed variable sized multiple angiomyolipoma of both kidney. By open lung biopsy, she was diagnosed as pulmonary LAM associated with Tuberous sclerosis and renal Angiomyolipoma. We present the case and discuss the connection between pulmonary LAM and Tuberous sclerosis.

• Tuberculosis and Respiratory Diseases
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• v.48 no.5
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• pp.788-793
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• 2000

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by mental retardation, epilepsy, and adenoma sebaceum. Pulmonary involvement is uncommon, but, when involved by tuberous sclerosis, it shows characteristic reticulonodular infiltration and cystic changes. Lymphangioleiomyomatosis is a rare disease of unknown cause that affects women of reproductive age. It is characterized by progressive proliferation of smooth muscle in the lung. We experienced one case of pulmonary lymphangioleiomyomatosis associated with tuberous sclerosis in a 26-year-old female patient. This case is reported with a brief review of the literature.

• Childhood Kidney Diseases
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• v.18 no.2
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• pp.132-136
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• 2014

Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organ systems and causes tumors. It is important that physicians are aware of the manifestations of TSC, and that they follow the recommendations for screening and evaluation. Several types of renal abnormalities may develop in individuals with TSC. Individuals with TSC may require ongoing treatment that can be adapted for each arising manifestation of renal disease. Herein, we report 4 patients with TSC who presented with a range of different renal manifestations, including angiomyolipoma, renal cell carcinoma, renal infarction, renal cyst, and nephrolithiasis.

• Clinical and Experimental Pediatrics
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• v.50 no.2
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• pp.178-181
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• 2007

Purpose : The renal manifestations of tuberous sclerosis complex (TSC) are remarkably diverse, including polycystic kidney disease, simple renal cysts, renal cell carcinomas, and angiomyolipomas. All of these occur in children as well as adults in TSC. Angiomyolipomas, which can cause spontaneous life-threatening hemorrhages, are by far the most prevalent and the greatest source of morbidity. Here, we will address our experience, adding to the literature on pediatric patients with TSC requiring evaluation and treatment for renal manifestations. Methods : A retrospective analysis was made on 19 patients in whom TSC was diagnosed between May 2001 and Oct. 2005 at Severance Hospital. All patients had clinical diagnoses of TSC as defined by the 1998 tuberous sclerosis complex consensus conference. Results : The patients consisted of 13 boys and 6 girls with a mean age of 7.3 years (range 1 to 22). The renal disease associated with TSC included angiomyolipoma in nine patients (47.4 percent), renal simple cyst in one (5.3 percent), hydronephrosis in one (5.3 percent) patient. Eight patients (42.1 percent) presented with normal kidney contours at abdominal ultrasonography. One patient underwent renal replacement therapy due to chronic renal insufficiency after nephrectomy. Hemorrhage from angiomyolipoma was not detected. Conclusion : In our review of 19 cases of TSC, renal manifestations are reported in 57.9 percent of patients. Asymptomatic angiomyolipoma associated with TSC grow gradually, although severe hemorrhages are rare. So patients with TSC should be followed up with serial computerized tomography or abdominal ultrasonography. And also, renal function should be monitored conservatively.

• Journal of Chest Surgery
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• v.42 no.6
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• pp.770-773
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• 2009

Rhabdomyoma has been reported to be the most common type of cardiac tumors in fetuses and children, and multiple cardiac rhabdomyomas almost certainly signify the association with tuberous sclerosis. We report here on a case of Tetralogy of Fallot (ToF) that was associated with multiple rhabdomyomas and tuberous sclerosis. A two-year-old boy, who had undergone systemic-pulmonary shunt during the neonatal period, received total correction of his ToF after the complete regression of the cardiac tumor. The postoperative course was uneventful, and he has been follow-up for 2 months. The boy is currently in an excellent condition.

• Tuberculosis and Respiratory Diseases
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• v.39 no.6
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• pp.542-547
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• 1992

Tuberous sclerosis is an autosomal dominant disorder characterized by mental retardation, epilepsy, and adenoma sebaceum. Associated lesions include retinal phacomata, shagreen patches, subungal fibromata, and benign visceral tumors such as pulmonary lymphangioleiomyomatosis. Lymphangioleiomyomatosis occurs exclusively in women, usually during the child-bearing years, and is characterized by proliferation of smooth muscle along the lymphatic vessels of the lung, thorax, abdomen. Proliferation of smooth muscle results in interstitial and obstructive lung disease, recurrent pneumothorax, and chylous pleural effusions. We saw two cases of pulmonary lymphangioleiomyomatosis associated with tuberous sclerosis in women of reproductive age. We report the cases with a brief review of the literatures.

• Journal of Chest Surgery
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• v.35 no.10
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• pp.745-749
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• 2002

Cardiac rhabdomyoma is a rare type of benign tumor affecting the heart. There are a few previous reports of intracardiac rhabdomyomas causing ventricular arrythmia. We describe a 1-year-old female tuberous sclerosis patient who was presented with a ventricular tachycardia. Diagnostic echocardiography revealed two masses in the left ventricular outflow tract originating from the ventricular septum. The masses were surgically resected through aortotomy using cardiopulmonary bypass and the masses appeared benign. The pathology was that of a cardiac rhabdomyomas. Postoperative course was uneventful and the ventricular tachycardia was controlled.

• Clinical and Experimental Pediatrics
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• v.46 no.9
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• pp.913-917
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• 2003

Cardiac rhabdomyomas are relatively uncommon and associated with tuberous sclerosis in 40-50% cases. We report a 10-month-old infant with tuberous sclerosis who presented with ventricular arrythmias and status epilepticus. There were hypopigmented macules on the body, periventricular calcifications, renal cyst and cardiac rabdomyomas just below the aortic valve. The patient required resection of left ventricular subaortic masses due to sustained arrythmia in spite of intravenous amiodarone therapy. The pathologic examination confirmed the diagnosis of rhabdomyoma. The patient had no more arrythmia during the 14 month follow up period. Although cardiac rhabdomyomas may spontaneously regress, surgery is often necessary and frequently resolves the underlying arrythmia.

• Tuberculosis and Respiratory Diseases
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• v.39 no.5
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• pp.433-437
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• 1992

Tuberous sclerosis is a syndrome characterized by the facial skin lesion, epilepsy, and mental retardation. Pulmonary involvement is uncommon, but when the lung is involved by tuberous sclerosis it shows characteristic reticulonodular infiltration and cystic changes. We experienced a 34-year-old female patient of known tuberous sclerosis admitted due to pneumothorax. Chest PA showed diffuse fine reticulonodular infiltration and chest CT revealed diffuse cystic changes of the lung. Pleurodesis with tetracycline was done to prevent recurrence, but chylothorax occurred four months after the treatment. Pleurosis was tried again and anti estrogen treatment began.