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PubMed1996

[Early manifestation of polycystic kidney changes in tuberous sclerosis].

Tuberous sclerosis (McKusick number: 19110) is well documented as an inheritable autosomal dominant disorder. On the occasion of results of an autopsy of a male fetus (1950 g, 29th gestational week) we report on the very early onset of a giant cell astrocytoma (microcalzified focally) and a cystic kidney disorder which in association with this phacomatosis is described first for this age. Thus, based on sonography there is a new differential diagnosis for the weighty prenatal diagnosis of a "Potter syndrome" or of "cystic kidneys". Moreover, on a chromosomal level we discuss possible connections between tuberous sclerosis and distinct forms of autosomal dominant polycystic kidney disease, ADPKD.

Adult↗
PubMed2006

Expression of an Arabidopsis CAX2 variant in potato tubers increases calcium levels with no accumulation of manganese.

Previously, we made a chimeric Arabidopsis thaliana vacuolar transporter CAX2B [a variant of N-terminus truncated form of CAX2 (sCAX2) containing the "B" domain from CAX1] that has enhanced calcium (Ca(2+)) substrate specificity and lost the manganese (Mn(2+)) transport capability of sCAX2. Here, we demonstrate that potato (Solanum tuberosum L.) tubers expressing the CAX2B contain 50-65% more calcium (Ca(2+)) than wild-type tubers. Moreover, expression of CAX2B in potatoes did not show any significant increase of the four metals tested, particularly manganese (Mn(2+)). The CAX2B-expressing potatoes have normally undergone the tuber/plant/tuber cycle for three generations; the trait appeared stable through the successive generations and showed no deleterious alternations on plant growth and development. These results demonstrate the enhanced substrate specificity of CAX2B in potato. Therefore, CAX2B can be a valuable tool for Ca(2+) nutrient enrichment of potatoes with reduced accumulation of undesirable metals.

Agrobacterium tumefaciens↗
PubMed1999

Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.

UNLABELLED: A 12-year-old boy with tuberous sclerosis complex (TSC) presented with a large retroperitoneal tumour. Exploratory surgery revealed an infiltrative tumour originating from the pancreas, with local metastases to the lymph nodes. The histologal diagnosis was a malignant islet cell tumour. Retrospectively measured pancreatic hormone levels, however, were normal. A connection between the malignancy and TSC was demonstrated by loss of heterozygosity of the TSC2 gene in the tumour. The primary mutation Q478X in this patient was identified in exon 13 of the TSC2 gene on chromosome 16. CONCLUSION: Pancreatic islet cell tumours have been mainly associated with multiple endocrine neoplasia syndrome type 1. In our case we demonstrate a direct relationship of this tumour to tuberous sclerosis complex, in the absence of further signs of multiple endocrine neoplasia syndrome type 1.

Carcinoma, Islet Cell↗
PubMed2004

A prospective longitudinal study of early cognitive development in tuberous sclerosis - a clinic based study.

We report a prospective longitudinal study of cognitive development in a series of 20 clinic-referred infants with Tuberous Sclerosis. The infants were seen between the ages of 11 and 37 months and were assessed regularly at 6-month periods using a within-subjects repeated measures design. Assessment using the Mullen Scales of Early Learning, a measure of cognitive and motor showed that with the exception of one child, all children had composite developmental quotients that fell into the mentally retarded range of intellectual functioning. In general, the infants' developmental quotients changed little between 12 and 36 months of age. Developmental progress was evident; however, with small incremental changes in raw scores for subjects over the course of the study. In three children, the developmental quotient changed by more than 20 points during the course of the study. The findings are considered in relation to the neurobiological risk factors for cognitive development in Tuberous Sclerosis.

Child Development↗
PubMed2005

Giant cells: contradiction to two-hit model of tuber formation?

1. Tuberous sclerosis (TSC) is an autosomal dominant disease characterized by the formation of hamartomatous lesions in many organs, including brain, heart or kidneys. It has been found that TSC is caused by the mutation in one of two tumor suppressor genes: TSC1 or TSC2, encoding hamartin and tuberin, respectively. 2. According to Knudson's two-hit model of tumorigenesis, second-hit mutation and resulting loss of heterozygosity (LOH) of a tumor suppressor gene is necessary for tumor formation. In fact, LOH is commonly found in several types of hamartomas formed in the process of tuberous sclerosis, but, interestingly, not in brain lesions, containing characteristic giant cells. 3. In the present paper we review literature covering origination of giant cells and present several hypotheses explaining why in spite of the presence of hamartin and tuberin, brain lesions form in TSC patients.

Animals↗
PubMed1987

Tuberous sclerosis and pregnancy; report of a case with renal and pulmonary involvement.

Tuberous sclerosis is a very infrequent hereditary disease, usually defined by the triad of epilepsy, mental retardation and adenoma sebaceum, although alterations in other organs can exist. Tuberous sclerosis in its association with pregnancy has seldom been described in the literature. One such case is reported here; that of a 24-yr-old woman whose pulmonary involvement constitutes its differentiating characteristic. We make special mention of the improvement of the respiratory function, without any modification of the renal function, in contrast with other previously published cases. She gave birth spontaneously by vaginal via. Finally, we underline the importance of prenatal diagnosis and genetic advice for these patients.

Adult↗
PubMed1975

Tuberous sclerosis complex and renal angiomyolipoma. Collective review.

Numerous case reports of renal angiomyolipoma with or without tuberous sclerosis continue to be published with increasing frequency in the urologic literature. The need for a comprehensive and updated review of the subject is timely. A collective pathologic, clinical, and radiologic review of the subjects of tuberous sclerosis complex and renal angiomyolipoma is presented; and a plan for the urologic management is discussed.

Blood Vessels↗
PubMed1991

Malignant renal tumors in tuberous sclerosis.

Although the frequency of renal carcinoma in tuberous sclerosis is lower than that in von Hippel-Lindau syndrome, it occurs bilaterally in 43 percent of patients at a median age of twenty-eight years. Concomitant hamartomas and hyperplastic cystic components may confound the histologic diagnosis of renal carcinoma in tuberous sclerosis.

Adult↗
PubMed1987

Evaluation of renal angiomyolipoma by traditional and modern imaging in a case of tuberous sclerosis.

Renal angiomyolipoma is known to affect mainly patients with tuberous sclerosis, although it can be found in a significant number of otherwise normal individuals. Few cases have been published in which angiomyolipoma and renal cell carcinoma occurred in the same kidney. In such cases the radiologist may be asked if it is possible to distinguish between the two tumors in the same kidney. The present case report describes systemic traditional and modern imaging of huge bilateral angiomyolipoma in tuberous sclerosis. The analysis of the data implies that, although the diagnosis of angiomyolipoma can be established with noninvasive techniques only, it is impossible to distinguish between the two mentioned tumors if they coexist in the same kidney, even if all available imaging techniques are used.

Adult↗
PubMed1987

Enhancement of plasminogen activator activities by N-methyl-N'-nitro-N-nitrosoguanidine in tuberous sclerosis fibroblasts.

The alkylating agent N-methyl-N'-nitro-N-nitrosoguanidine (MNNG) enhanced the levels of plasminogen activator (PA) activity in fibroblast cells derived from the skin of patients with tuberous sclerosis. The enhanced enzyme levels were not correlated with those of cloning efficiency nor those of DNA synthesis after MNNG treatment. Enzyme enhancement was also observed in fibroblasts of ataxia telangiectasia and in human neoplastic glia cells, but not in fibroblasts of normal children. The PA induction test may be sufficiently sensitive for the detection of the cellular defects of tuberous sclerosis.

Cell Line↗
PubMed1996

Subependymal giant cell astrocytoma associated with tuberous sclerosis: diagnostic and surgical characteristics of five cases with unusual features.

Five children with tuberous sclerosis and intracranial tumors were surgically treated at Neurosurgery Department of Hacettepe University School of Medicine. Two of the five patients presented with the giant cell astrocytoma filling the third ventricle. Direct surgical intervention and tumor removal was carried out in all four patients (three with a total surgical resection and one with a subtotal resection) and cerebrospinal fluid shunting procedure in one. Histopathological examination revealed giant cell astrocytomas in four patients. Postoperatively, one died and the rest four patients survived with minor focal neurologic difficulties. The surgical results and the changing concepts in the treatment of tuberous sclerosis are discussed and the literature is reviewed.

Adolescent↗
PubMedDate not supplied

Sleep disorders in tuberous sclerosis: a polysomnographic study.

Overnight polysomnography was performed in 10 subjects with tuberous sclerosis (TS) and partial epilepsy in order to investigate the relationships between sleep organization, sleep disorders and epilepsy. Sleep architecture abnormalities were observed in 9 cases. Compared with ten healthy age-matched controls, the TS group showed a shorter total sleep time, a reduced sleep efficiency, a higher number of awakenings and stage transitions, an increased wake after sleep onset and stage 1 and a decreased REM sleep. Children with seizures showed a more disrupted sleep architecture compared with seizure-free children. Sleep disorders in TS were mainly due to sleep-related epileptic events and were more evident in children who showed large bifrontal or temporal tubers on MRI.

Adolescent↗
PubMed1995

History of the tuberous sclerosis complex.

How the concept of the tuberous sclerosis complex (TSC) has developed over a period of time spanning 160 years has come form simple clinical observations, pathological studies and technological advances of imaging methods. It all began with PFO Rayer's color plate of a drawing of a patient who apparently had facial angiofibroma, published in the year 1835, and continued with von Recklinghausen's report of cardiac myomas and cerebral sclerosis in a newborn who had died minutes after birth. The seminal contribution was provided by D.M. Bourneville who, in 1880, reported and named as tuberous sclerosis the neuropathological findings in a young patient with seizures, hemiplegia, and mental subnormality who also had renal tumors. We now know that TSC is a hamartomatosis, and thanks to studies of recent years using positional cloning and DNA analysis, we are beginning to understand the biological mechanisms of these disorders which include NF1, NF2 and von Hippel-Lindau disease. Unique to TSC is that it is both phenotypically and genotypically heterogeneous. One of two suspected genes found in chromosome 16 by positional cloning has been cloned (TSC2). Another one that was discovered earlier in chromosome 9 (TSC1) has not yet been characterized. The gene product from TSC2 has been named tuberin.

History, 19th Century↗
PubMedDate not supplied

Cardiac rhabdomyoma and tuberous sclerosis in three fetuses: a neuropathological study.

In spite of the development of modern imaging, most lesions of tuberous sclerosis (TS) remain difficult to detect before birth. Particularly, brain involvement at a fetal stage of development is poorly documented. We report three cases of fetuses examined after pregnancy was interrupted because of the detection of cardiac rhabdomyoma. In two of the three cases there were brain lesions suggestive of TS, including cortical tubers, subependymal nodules and scattered bizarre giant cells in the white matter. These observations confirm that brain lesions of TS can be present before birth; they can show, at an early period of development, an aspect quite similar to lesions described at an adult stage. The most characteristic cell abnormality is the so-called balloon cell. The majority of these cells exhibit a strong immunoreactivity with glial antibodies (GFAP, vimentin, S100). Immunoreactivity with neuronal markers (synaptophysin) is present in a small percentage of balloon cells.

Antibodies↗
PubMedDate not supplied

Hyperdense cerebral lesion in childhood tuberous sclerosis: computed tomographic demonstration and neuropathologic analysis.

A child with focal intractable seizures and electroencephalographic evidence of a highly epileptogenic focus was found to have a high-density, wedge-shaped lesion in the left parietal region on cerebral computed tomography. The lesion extended from the ventricular to the pial surfaces and did not enhance after contrast infusion. Biopsy confirmed the diagnosis of tuberous sclerosis. Atypical features of tuberous sclerosis on computed tomography are reviewed and the possible pathogenesis of the lesion is discussed.

Brain↗
PubMed1996

Brain and eye pathology in an infant with Down syndrome and tuberous sclerosis.

The association of tuberous sclerosis with Down syndrome is exceedingly rare. An infant with this unusual association is reported with a description of brain and ocular abnormalities which were referable to both conditions. There was anteroposterior foreshortening of the brain and Brushfield spots in the iris, which are described in Down syndrome. The infant, who suffered from a seizure disorder, manifested multiple tubers and subependymal candle gutterings in the brain as well as bilateral retinal astrocytic hamartomas.

Brain↗