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Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2., Objective: To characterize clinically and genetically patients diagnosed with TSC., Patients and Method: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them. The exon 15 of TSC1 gene and exons 33, 36 and 37 of TSC2 gene were amplified by polymerase chain reaction and sequenced. The relationship between the mutations found with the severity and clinical course were analyzed., Results: In 61.9% of the patients the symptoms began before 6 months of age. The initial most frequent manifestations of TSC were new onset of seizures (73.8%) and the detection of cardiac rhabdomyomas (16.6%). During the evolution of the disease all patients had neurological involvement; 92.9% had epilepsy. All patients presented hypomelanotic spots, 47.6% facial angiofibromas, 23.8% Shagreen patch, 47.6 heart rhabdomyomas and 35.7% retinal hamartomas. In the genetic study of 21 patients two heterozygous pathogenic mutations in TSC1 and one in TSC2 genes were identified. The latter had a more severe clinical phenotype., Conclusions: Neurological and dermatological manifestations were the most frequent ones in patients with TSC. Two pathogenic mutations in TSC1 and one in TSC2 genes were identified. The patient with TSC2 mutation manifested a more severe clinical phenotype.

The echocardiographic identification of cardiac tumors as cause of embolic episodes is infrequent, and the finding of multiple papillary fibroelastoma is even less common. We report a 70 years old female with a history of a rheumatic mitral valve lesion, subjected to a commissurotomy in 1970. She was admitted with a cerebrovascular accident and the transesophageal echocardiogram revealed the presence of a multiple papillary fibroelastoma in the aortic valve. The patient was operated and the tumor excised, the pathological analysis confirmed the diagnosis. The patient was discharged in good conditions and after 8 months of follow up, she has no neurological abnormality and is in functional class I.

A retrospective study on twenty two cases with tuberous sclerosis, from 1972 to 1994, is done. It is also reviewed national and international literature, emphasizing epidemiologic, clinical, radiological, genetic and therapeutic aspects, as well as diagnosis and prognosis.

Although cardiac infiltration is common in advanced stage of acute leukaemia, it is not usually diagnosed at life and it is extremely rare for it to become pseudotumoral. A 25-years-old patient with an acute monoblastic leukaemia who had a leukaemic infiltration which affected the main part of the left ventricle at the time of diagnosis, is referred. The heart infiltration was detected by a two dimension echocardiography. In spite of a massive infiltration, heart failure was not present and the left ventricle's ejection fraction was 50%. Even though chemotherapy was administered, the patient died four days after diagnosis due to septic shock of respiratory origin. The most relevant autopsy finding was a widespread pseudotumoral infiltration of the left ventricle, the back side of the right ventricle and the interventricular wall. The pseudotumoral infiltration of the heart by acute leukaemia is uncommon and must be differentiated from granulocytic sarcoma. The usefulness of the different diagnostic procedures is discussed.

According to the Spanish Cardiac Transplantation Registry, malignant neoplasm remain the fifth leading cause of death in heart transplant recipients. Skin cancers are the most common malignancies and they are frequently associated to solar keratosis, warts and keratoacanthoma. Geographic areas are high cumulative ultraviolet exposure have a greater incidence of skin cancer. Skin tumors are often located in chronically sun-exposed areas of the body. Lymphoproliferative disorders are the second most frequent malignant neoplasm after heart transplantation. Incidence of lymphoma is 350 times greater in heart transplant recipients than in the general population. B-cell tumors are the most common histologic type and it is associated with infection by the Epstein-Barr virus. T-cell tumors account for a 12% of all lymphoproliferative diseases and are not related to viral infections. Kaposi's sarcoma is the thirth commonest neoplasm in heart transplant recipients. Other malignat tumors are: uterine cervix, vulva, scrotum, colon, stomach, kidney and biliary tract. Prevention of neoplasm in heart transplant recipients include a decrease of immunosuppression and the avoidance of multiple immunosuppressive drug association. Some cases of neoplasm regression have been described when immunosuppressive therapy is decreased.

We describe a case of uterine leiomyosarcoma with four elongations that, through the vena cava, reached the pulmonary artery, left atrium, and right renal artery respectively. Clinical features suggested congenital pulmonary artery stenosis with pulmonary emboli. Clinical diagnosis was not made in spite of angiography and radionuclide scans. We review the literature on the subject. We also discuss the amenability of surgical correction as well as the mechanisms of the intravenous growth of this type of tumor.