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The cardiac manifestation usually associated with Tuberous Sclerosis is rhabdomyoma. The authors present a clinical case of Tuberous Sclerosis with the particular coexistence of congenital heart disease (mitral anomaly and pulmonary stenosis) and a single intracardiac rhabdomyoma that appeared at the age of four years.
Webb, Thomson, and Osborne [1991: Arch Dis Child 66:1375-1377] reported on the pattern of cerebral lesions found in an epidemiological sample of patients with tuberous sclerosis (TS) and clinically judged to be of normal intellect. Varying numbers of tubers and subependymal nodules were found, but clinically there appeared to be few associated neuropsychological impairments. Our objectives in this study were to conduct a detailed neuropsychological assessment to determine whether these patients were indeed free of cognitive deficits. We report the results of a detailed neuropsychological assessment in this sample and a matched comparison group. Although of average intelligence, most TS individuals had a significant cognitive deficit of one sort or another, and in a number of cases the pattern of cognitive impairments matched that seen in other neurological disorders. Additionally, the overall rate of cognitive deficits was significantly greater than in the controls. We conclude that normally intelligent individuals with TS are prone to specific cognitive difficulties. Further research will be required to clarify the nature of the links between the brain abnormalities and type of neuropsychological dysfunction. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:642-646, 1999.
We present an 11-year-old girl with tuberous sclerosis who developed seizures characterized by circling behavior. Rotatory seizures are uncommon and occur mainly secondary to a focal pathology. Our patient had a right temporal epileptic focus, confirmed by magnetic resonance imaging (MRI) to be a subcortical lesion in the right temporal region. This case is probably the first reported case of tuberous sclerosis associated with rotatory seizures with an ictal EEG.
Computerized transaxial tomography is a useful test for the recognition of tuberous sclerosis when this diagnosis has not been firmly established by clinical methods. In addition, computerized transaxial tomography may demonstrate the location of obstruction in patients with tuberous sclerosis who have developed signs of increased intracranial presure. These generalizations are supported by evidence from four patients investigated by this test.
Tuberous sclerosis (Bourneville-Pringle) and type I neurofibromatosis (von Recklinghausen) are familial multiple tumour syndromes. Both entities have in common that the cutaneous manifestations can stigmatize the carriers and considerably reduce the quality of life. CO2-laser surgery (vaporisation) consistently yields good to excellent aesthetic results in the treatment of adenoma sebaceum in tuberous sclerosis. Patients with type I neurofibromatosis who carry several hundreds neurofibromas usually benefit from a numerical reduction in their skin lesions, despite the less predictable aesthetic result, ranging from excellent to fair. The present study reports on the treatment outcome of CO2-laser surgery in 8 patients with adenoma sebaceum and 8 with neurofibromatosis.
We describe a previously diagnosed tuberous sclerosis patient that arrived to the hospital with an intracerebral hemorrhage whose origin was an arteriovenous malformation (AVM). A craniectomy was performed and the hematoma was evacuated with the alleviation of the patient. Although the association between tuberous sclerosis and intracerebral hemorrhage is known in the literature it has never been described associated with an AVM.
Tuberous sclerosis is a rare hereditary disease which appears immediately after birth of during the second and third year of life. It is a multiorgan disorder characterized by convulsions, mental retardation and focal angiofibromyoma. The main findings are brain lesions including tuberous and astrocytes hamarthomas by which this disease was named. Renal alterations are angiofibromyolipoma and cysts, which are present in 40-80% of patients. The diagnosis is based on clinical, radiological and histological findings. This disease has a progressive course and fatal outcome. The therapy is symptomatic and surgical. The aim of this paper was to present this rare disease, which occurred in this patient during fourth year of life. Besides brain changes the patient also has extensive morphological renal alterations and renal failure. She died in 40th year of life due to multiorgan dysfunction.
We describe five cases of tuberous sclerosis in members of one family, all having renal involvement but with differences in age of onset and mode of presentation. Clinical, laboratory, and pathologic features helpful in diagnosing this condition and in distinguishing it from polycystic kidney disease and renal neoplasms are stressed. Tuberous sclerosis should always be considered in differential diagnosis of patients with multiple cystic renal lesions, particularly when age of onset of symptoms ranges from infancy to adult life in different members of one family. Absence both of specific glomerular or tubular lesions in ultrastructure and of major abnormalities in renal tubular function supports the existing concept that replacement of nephrons by hamartomatous lesions is the cause of progressive renal failure.
We present a case of spontaneous rupture of bilateral renal angiomyolipoma (AML) with tuberous sclerosis. A 46-year-old woman was admitted with sudden onset of severe left flank pain. She had been diagnosed to have bilateral AML with tuberous sclerosis 15 years earlier. Four years after the initial diagnosis, spontaneous rupture of right renal AML occurred and right renal embolization of the right renal artery was performed. The treatment for the left renal AML was not performed. Eleven years later in 2000, spontaneous rupture of contralateral renal AML occurred and left renal embolization of the left renal artery was performed. We evaluated the efficacy of selective arterial embolization in right AML and the change of the tumor size during a 10-year follow up after embolization. The right AML had decreased 86% in 11 years. Selective arterial embolization is an effective and safe treatment for AML. We evaluated the natural history of left AML and calculated the doubling time to be about 1,370 days for the first period of 4 years and about 2,075 days for the second period of 11 years. Although the growth change was very slow, we should observe the tumors carefully on computed tomography or ultrasound to prevent life-threatening hemorrhage.
Tuberous sclerosis (TS) is an autosomal dominant disorder with a significant range of clinical expression. Renal, pulmonary, central nervous system, and cardiac complications may result in severe morbidity. Early recognition of the syndrome is important to ensure prompt identification of systemic involvement. We review the clinical features of tuberous sclerosis and discuss recent advances in our understanding of its pathogenesis and appropriate management.
A 52-year-old woman complained of exertional dyspnea. She had two sons with tuberous sclerosis and presented with facial angiofibroma and bilateral renal angiomyolipomas. Her chest radiograph demonstrated diffuse reticular shadows and chest CT revealed numerous well-defined cysts outlined by thin walls. Pulmonary lymphangiomyomatosis was diagnosed by transbronchial biopsy that showed multifocal proliferation of immature smooth muscle cells located in the walls of some bronchi, and in alveolar walls and pulmonary vessels. Immunoreactivity for SMA and HMB 45 was present in the same cells, but immunostaining for estrogen and progesterone receptors was negative. Much is still unknown about pulmonary lymphangiomyomatosis and pulmonary involvement in tuberous sclerosis. Further studies, such as gene analysis, will clarify the relationship between these diseases.
Tuberous sclerosis (TS) is an autosomal dominant, multisystemic and neurocutaneous disease with high spontaneous mutation rate, and it mostly involves the skin, brain, kidneys, heart and the eyes. This study included 35 patients diagnosed with tuberous sclerosis and aged 6 months to 17 years, with a mean age of 6.5+/-4.8 years. The most frequently observed manifestations were those of the skin (97.1%) and of the central nervous system (seizures 94.2%, mental retardation 51.4%), followed by renal (32.2%), cardiac (25.8%) and ocular (22.5%) manifestations. Among cutaneous manifestations, hypomelanotic macules (94.3%), facial angiofibromas (40%), shagreen spots (20%), fibrous plaques on the forehead (5.7%) and ungula fibromas (5.7%) were observed. Tonic seizures (37.1%) and infantile spasms (21.2%) accounted for majority of seizures. Neurophysiological development was normal in 25.6% of cases, retarded in 51.4% and borderline in 23%. Thirty-four patients had typical pathological findings on magnetic resonance imaging (MRI). In conclusion, the earliest and most frequent complaint is seizure in cases with TS. Careful investigation for hypomelanotic macules and other skin manifestations typical for TS in cases presenting with convulsion makes early diagnosis possible and obviates unnecessary investigations.
Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease characterized by a high rate of spontaneous mutations involving at least two loci: TSC(1) (9q34) and TSC(2) (16p13). It results in hamartomas or tumours which can affect a variety of organs, most commonly the brain, skin and kidneys. At least half of patients with TSC have underlying renal pathology, most commonly angiomyolipomas (AML) and/or cysts with, more rarely, adenocarcinoma, but oncocytomas, sarcomas, interstitial fibrosis and glomerulosclerosis have all been reported. Renal disorders may be asymptomatic or associated with acute lumbar ache, hematuria, abdominal mass, retroperitoneal hemorrhage. Renal failure is infrequent. The diagnosis of this disease is often performed, as in the present cases, very late and it is made possible by radiological examinations such as TC scan o RMI (when renal failure is present), usually performed after macrohaematuria or abdominal or renal colics or renal failure. When fatty tissue cannot be demonstrated within renal lesion (as in the female case), biopsy can be undertaken to exclude malignancy. Histology at the edge of an AML may look like renal carcinoma, but recent studies suggest that it can be differentiated by staining for HMB-45 which is positive in AML and negative in carcinoma. Two cases of tuberous sclerosis with different neurological fenotype, with bilateral renal angiomyolipomatosis and heavy renal failure, are presented.
Tuberous sclerosis is an autosomal dominant multisystem disorder characterized by hamartomatous growths in different organs. Disease determining genes are localized to 9q34 (TSC1) and 16p13.3 (TSC2). Two-thirds of the cases are sporadic and result from new mutations. The aim of this study was to determine TSC2 gene mutations by Single Stranded Conformation Polymorphism (SSCP) analysis and direct sequencing in 33 familial cases with tuberous sclerosis who were followed up in the Pediatric Neurology Departments of Hacettepe University Ihsan Doğramaci and Ankara Social Security Children's Hospitals. Forty-one exons of TSC2 gene were amplified and subjected to SSCP, and sequence analysis was performed when an abnormal SSCP pattern was observed. As a result, six new mutations and nine gene polymorphisms were detected. The new mutations are G-->T mutation in exon 20, 16bp deletion in exon 29, 18bp deletion in exon 40, 538 G-->A mutation in exon 29, T-->C mutation in exon 21 and G-->A splice site mutation in exon 5. Although further studies on larger groups are needed, these results do not indicate a common region or type of mutation in the Turkish population.
We present the case of an 11-year-old female patient with tuberous sclerosis who had a right nasal mass. CT examination revealed fibrous dysplasia involving the frontal, ethmoid, sphenoid, and vomer bones. Biopsy findings of the mass confirmed this diagnosis, and follow-up revealed marked expansion of these lesions. The authors emphasize the association of bone abnormalities and tuberous sclerosis and discuss the consideration of fibrous dysplasia as a component of this syndrome.
Deletions of the long arm of chromosome 9 are the most common genetic alteration in transitional cell carcinoma (TCC) of the bladder. Several regions of deletion on 9q have been mapped by loss of heterozygosity (LOH) analysis, one of which encompasses one of the two loci for tuberous sclerosis, TSC1, at 9q34. Tuberous sclerosis complex (TSC) is an autosomal dominant condition in which affected individuals develop benign tumors (hamartomas) in many organs. There is a small increase in risk of renal cell carcinoma (<2%), but the hamartomas are of stromal origin and patients do not develop an excess of epithelial malignancies. However, during a search for candidate bladder tumor suppressor genes within the 9q34 region of LOH, we previously found a small number of mutations of TSC1, raising the possibility that this represents a bladder tumor suppressor. Here, we have carried out mutation analysis of 62 bladder tumors and 33 bladder tumor-derived cell lines to establish the frequency and spectrum of TSC1 mutations in TCC. Twelve percent of samples contained mutations. We found 10 somatic mutations, 9 of which are novel mutations not found previously in TSC cases. Two of these were missense mutations, a type of change only rarely observed in the germ line in TSC. We also identified a bladder tumor patient carrying a germ-line mutation but with no symptoms of TSC. The tumor in this case and in two other cases with somatic mutations retained the wild-type allele. Thus 3 cases with mutation retained heterozygosity for TSC1 despite our selection of tumors mostly with 9q LOH (>80%) for the study. This may indicate that haploinsufficiency for TSC1 can contribute to the development of bladder cancer and, if so, that the LOH of TSC1 observed in >50% of TCCs is biologically significant.
Increased propensity for tumor formation in neurofibromatosis and tuberous sclerosis exists because of defective tumor-suppressor genes. Although different tumor-suppressor genes may be involved in neurofibromatosis and tuberous sclerosis, at the cellular level these genes share rather common enzymatic pathways. We believe these genetic malfunctions have resulted in a cumulative or additive effect for rapid growth of optic glioma in the following unusual case that has hybrid phakomatosis.
Tuberous sclerosis complex is an autosomal dominant disorder of cellular proliferation and differentiation with variable penetrance and a high spontaneous mutation rate that affects multiple organs, including the kidney. Kidney involvement is commonly asymptomatic and bilateral, and rare in childhood, especially under 10 years. Herein, we report a case of unilateral renal angiomyolipoma in a nine-year-old girl with tuberous sclerosis who had symptoms of pain and macroscopic hematuria.