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PubMed1992

[Bourneville tuberous sclerosis manifested by prenatal finding of intracardiac tumors].

Neonatal cardiac rhabdomyoma is the most frequent cardiac tumour in the newborn, and a classical way to diagnose tuberous sclerosis (Bourneville's disease). The authors report 4 cases, including 2 antenatal diagnosis: 2 of them had arrhythmia, one with asystolic cardiac failure and the other with cyanosis due to a right-left shunt; the tumour was asymptomatic in the 2 others. The 4 babies had clinical and radiological neurologic signs of tuberous sclerosis, initially or during the course of the disease. The authors discuss the polymorphism of the clinical presentation of tuberous sclerosis in the newborn. Although tuberous sclerosis is transmitted through a dominant gene, the expressivity and the penetrance are very variable. The authors discuss the examination and investigation of at risk family members. The genetic counsel is difficult but very important because of the poor neurologic prognosis of the disease.

Female↗
PubMed1992

[Cardiac rhabdomyomatosis and Bourneville's tuberous sclerosis in the fetus. Apropos of 2 cases].

Two cases of cardiac rhabdomyoma discovered fortuitously at foetal ultrasonography gave rise to no obstructive cardiac signs or arrhythmias either in the antenatal or postnatal periods. These multiple tumours often observed in Bourneville's tuberous sclerosis orientated the clinical investigations to the diagnosis of this disease from the outset. MRI demonstrated cortical tubers and subependymal nodules in both cases. A retinal hamartoma was present in one case. No renal involvement could be detected by ultrasonic examination. No neurological or cardiovascular symptoms appeared during follow-up (20 and 4 months after birth). Investigations in the parents were negative, these two cases being sporadic forms of Bourneville's tuberous sclerosis. The functional prognosis is related to the neurological outcome. Doppler echocardiography would appear to be the best method of following up cardiac rhabdomyomas, and enabled the demonstration of partial regression of the largest tumour in one of these two cases. Cardiac MRI is also an excellent diagnostic tool. As it is usually performed at the same time as cerebral MRI, essential in the follow-up of Bourneville's tuberous sclerosis, it does not represent additional discomfort to the patient.

Adult↗
PubMed2004

Concurrent hepatic and ruptured renal angiomyolipoma in tuberous sclerosis complex.

Angiomyolipoma of the liver or kidney is one of the clinical manifestations of tuberous sclerosis complex. However, concurrence of angiomyolipoma in both liver and kidney associated with tuberous sclerosis complex is a rare entity. Renal angiomyolipomas with large aneurysms confer a higher probability of rupture as compared to small aneurysms. Herein, we document a case of tuberous sclerosis coexisting with hepatic and renal angiomyolipoma in a 37 year-old woman who presented with an acute abdomen due to ruptured tumor. Computed tomography of the abdomen revealed multiple tumors over the bilateral kidneys and liver. A right nephrectomy was performed. During surgery, a liver biopsy was performed from which a preliminary diagnosis of necrosis was established. However, immunoreactivity staining using monoclonal antibody HMB-45 (Human Melanoma, Black) led to the final diagnosis of angiomyolipoma. We emphasized that pathologists and clinicians should be aware that cases of tuberous sclerosis complex may be associated with renal and hepatic angiomyolipoma. To avoid an inappropriate diagnosis, before diagnosing liver necrosis, immunohistochemical staining for HMB-45 is recommended.

Abdominal Pain↗
PubMed1991

[Aneurysm of the abdominal aorta and stenosis caused by compression of the celiac tripod in a young woman with tuberous sclerosis and previous mesoblastic nephroma].

Tuberous sclerosis, first described by Bourneville in 1880, is a syndrome characterized essentially by mental deterioration, seizures and cutaneous sebaceous adenoma; an association with malformative lesions of the kidney and cardiovascular apparatus has been documented. Recently a case of a young woman with tuberous sclerosis has come to our observation; she was also affected by abdominal aortal aneurysm and stenosis due to compression of the truncus coeliacus; previously she operative elsewhere for right nephrectomy for breakage of nephric right arterial aneurysm: the histological examination of the removed kidney manifested the presence of a mesoblastic nephroma and afterward tuberous sclerosis was diagnosed. The angiomyolipomatosis evidence confirmed the suspicion of a notable inclination to polydistrict malformations in tuberous sclerosis.

Adult↗
PubMed1989

[Tuberous sclerosis, changes in the diagnostic and therapeutic approach].

In the last 15 years the diagnostic possibilities in tuberous sclerosis have considerably improved. Some new signs of this disorder have recently been described. The meaning of other signs became more evident. Investigation of large groups of patients made it possible to indicate which clinical features of tuberous sclerosis may be classified according to their diagnostic importance as pathognomonic or definitively diagnostic or as presumptive or provisionally diagnostic. It is sometimes difficult to determine the significance of a single nonspecific lesion. It is very important to know the meaning of the signs for those parents or more distant relatives who ask for genetic counseling. As long as the gene defect in tuberous sclerosis had not been determined it will remain possible that formes frustes will not be detected despite the most elaborate examination. Connected with the improvement of the diagnosis by imaging technics of especially the cerebral and renal features, the therapeutic possibilities have been changed. On one side this concerns neurosurgical removing of giant cell astrocytoma situated near the foramen of Monro and of cortical or subcortical tubers that cause therapy resistant partial epilepsy. On the other side it concerns embolisation of symptomatic renal angiomyolipomas or renal transplantation in the case of renal insufficiency due to cysts with or without angiomyolipomas.

Combined Modality Therapy↗
PubMed1987

[A case of tuberous sclerosis associated with a pineal region tumor].

The authors report a rare case of tuberous sclerosis associated with pineal region mixed glioma. A 38-year-old woman with tuberous sclerosis, who had a past history of left nephrectomy and tumorectomy of the right kidney for bilateral renal angiomyolipomas, was admitted because of headache and ataxic gait. CT scan and cerebral angiography suggested a pineal region tumor. Suboccipital craniectomy and partial removal of the tumor was performed via infratentorial supracerebellar approach. Microscopic examination revealed mixed oligodendroglioma and astrocytoma. It is well known that tuberous sclerosis is occasionally associated with brain tumors. However, with few exceptions, these have been subependymal giant cell astrocytomas in the lateral ventricles. They seem to originate from subependymal nodules of hamartomatous nature. As far as we are aware, association of pineal region tumor with tuberous sclerosis as in this case has not been reported.

Adult↗
PubMed1987

Polycystic kidneys as the presenting feature of tuberous sclerosis.

Tuberous sclerosis is an inherited neurocutaneous disorder characterized by seizures, mental retardation, cutaneous lesions and visceral hamartomas. We describe a 17-year-old boy in whom polycystic kidneys of the adult type were fortuitously detected on routine check-up. The patient enjoyed good health and had no evidence of renal dysfunction. Closer scrutiny of his past history and his physical and laboratory findings disclosed that he had tuberous sclerosis. Our case adds to the scant reported experience with the association of tuberous sclerosis and adult-type polycystic kidneys, and suggests that a search of additional manifestations of tuberous sclerosis is warranted in children in whom adult-type polycystic renal disease is detected.

Adolescent↗
PubMed1979

[The correlation between autoregressive power spectrum of EEG and computerized tomography in tuberous sclerosis (author's transl)].

The autoregressive power spectrum and their component analyses of 36 electroencephalograms of 9 patients with tuberous sclerosis and 21 healthy children were studied. The data were recorded on the analog tapes, and the 20 second artifact free segment of records was digitized at 50 samples/sec. The autoregressive power spectrum and their component were calculated by the methods of Sato (1976) with the minicomputer PDP 11/40. The component consisted of the first and the second order elementary processes. The former showed a transient nonscillatory delta wave, whereas the latter showed damped oscillatory waves of delta, theta, alpha and beta rhythms in the EEG. The characteristics of these component rhythms in the EEG were given by the frequency, the time constant of the nonoscillatory delta, the damping time of the oscillatory component waves (time constant of the envelope of the damped oscillation), the mutual information amounts, etc. Thus, the correlation between these characteristics of component and CT-scan in tuberous sclerosis were examined. The results were as follows: 1. Compared with the characteristics of EEG in normal children, the mutual information amount, the damping time and/3r time constant showed significantly lower value in alpha rhythms of frontal-, central-regions and in theta, delta rhythms of occipital region in the patient with tuberous sclerosis. 2. Multiple subependymal high density areas were found in all of these patients on CT. EMI-number of these high density areas were less than that of calcification in younger children below the age of 3 years, but in older children were equivalent to that of calcification. 3. The correlation between the number of subependymal nodule on CT and the mutual information amount in the EEG showed significantly the negative coefficient in theta, delta rhythms of O1 region in older age group of patients. 4. The correlation between EMI-number of these subependymal high density areas and the mutual information amount in the EEG showed significantly thenegative coefficient in theta & delta rhythms of O1 region in all cases of patients. 5. It is considered that the multiple subependymal nodules may influence the background activities of the central and the occipital regions in the EEG of tuberous sclerosis.

Child↗
PubMed1983

Family studies in tuberous sclerosis. evaluation of apparently unaffected parents.

A family study was conducted to evaluate the apparently unaffected parents of 13 patients with tuberous sclerosis. None of the parents had a personal or family history suggesting the diagnosis of tuberous sclerosis. All 26 parents were examined according to a protocol that entailed medical history, physical examination (including Wood's lamp examination of the skin), funduscopic examination through a dilated pupil, roentgenograms of the hands, feet, and skull, renal ultrasound studies, and cranial computed tomography (CT). In these 13 families, three fathers and one mother had previously undiagnosed tuberous sclerosis. Three of the four had skin changes, three had calcifications shown by CT, and one had renal cysts. These data demonstrate the importance of detailed examination of all parents of patients with tuberous sclerosis before recurrence-risk counseling is given.

Adenoma↗
PubMed1994

[Coincident renal cell carcinoma and renal angiomyolipoma in tuberous sclerosis: a case report].

The coincidence of renal cell carcinoma and renal angiomyolipoma in tuberous sclerosis is extremely rare, although the coexistence of tuberous sclerosis and renal angiomyolipoma is well recognized. A case of bilateral renal angiomyolipomas and left renal cell carcinoma in a patient with tuberous sclerosis is reported. A 40-year-old male was referred to our hospital for further evaluation and treatment of left flank masses. Tuberous sclerosis was diagnosed on the basis of adenoma sebaceum, seizures, mental retardation and periventricular calcification. Contrast enhanced CT scan demonstrated irregularly enhanced masses in the upper pole and the middle portion of the left kidney, and multiple small low density nodules in the bilateral kidneys. Selective left renal angiography showed hypervascular areas in the upper pole and the middle portion of the left kidney. From the findings obtained, a clinical diagnosis of left renal cell carcinoma associated with bilateral renal angiomyolipomas was made. Left radical nephrectomy was performed. The histopathological examination revealed renal cell carcinoma and multiple renal angiomyolipoma nodules. The diagnostic considerations, particularly differential diagnosis between renal angiomyolipoma and renal cell carcinoma by imaging features, are discussed.

Adolescent↗
PubMed1996

Unilateral facial angiofibromas--a segmental form of tuberous sclerosis.

Multiple facial angiofibromas are thought to be a pathognomonic and common, feature of tuberous sclerosis. In contrast, it is rare to see multiple angiofibromas limited to one side of the face. We have studied a patient with multiple angiofibromas of one cheek, in order to search for other manifestations of tuberous sclerosis and to determine the histochemical identity of the angiofibromas. No evidence of other pathology known to be associated with the tuberous sclerosis complex was uncovered. Histopathology of the unilateral lesions revealed focal fibroplasia and positive cellular staining for factor XIIIa and vimentin, similar to that described for bilateral angiofibromas. We suggested that the segmental expression of tuberous sclerosis, in the form of unilateral facial angiofibromas, may result from a postzygotic mutation.

Adult↗
PubMed1996

[Anesthetic management of a patient with tuberous sclerosis].

Tuberous sclerosis is characterized by facial angiofibromatosis, epilepsy, and mental retardation. There have been only a few reports of anesthetic management of patients with tuberous sclerosis. We managed a 22-year-old patient with tuberous sclerosis using nitrous oxide (67%) in oxygen supplemented with fentanyl and midazolam. There were no untoward events related to anesthesia and surgery. Problems in managing patients with tuberous sclerosis are also discussed.

Adult↗
PubMed1998

Tuberous sclerosis-related gene expression in normal and dysplastic brain.

Cortical dysplasia (CD) broadly defines a complex cerebral malformative lesion associated clinically with intractable, pharmacoresistant epilepsy (including infantile spasms), especially in infants and children. In CD, the spectrum of structural brain abnormalities includes (at a minimum) neuronal dyslamination and (in severe cases) neuronal cytomegaly with cytoskeletal alterations and the presence of gemistocyte-like 'balloon cells'. In some CD variants, the neuropathological features are essentially indistinguishable from those of a tuber of tuberous sclerosis (TSC). Two genes associated with the autosomal dominant, multi-system disorder TSC have recently been cloned: TSC2 (on chromosome 16p13.3) encodes the protein tuberin and TSC1 (on 9q34) encodes hamartin. Tuberin has been immunolocalized to neurons and possibly astrocytes in normal brain and CD/TSC tubers, and is widely expressed in normal viscera; loss of heterozygosity and tissue culture studies suggest it functions as a growth suppressor. The TSC1 gene has been cloned within the last year and hamartin as yet has no well-defined cellular function, though its protein product may also function as a growth suppressor. This article focuses on the cellular pathogenesis of CD and TSC brain lesions and how the two may be biologically related. Studies of how TSC1 and TSC2 function in normal and dysplastic cerebral neocortex may provide a paradigm for understanding the neurobiology of other genes that determine epilepsy-associated cerebral malformations (e.g. lissencephaly, double cortex).

Brain↗
PubMedDate not supplied

Tuberous sclerosis: immunohistochemistry expression of tuberin and hamartin in a 31-week gestational fetus.

Tuberous sclerosis complex (TSC) is a common autosomal dominant disorder in which affected patients develop a wide variety of benign and malignant tumors. We report here on a 31-week gestational age fetus with pathological features of TSC. Developmental expression of hamartin and tuberin in various tissues was studied using immunohistochemistry. There was loss of expression of hamartin in the tuber and weak expression of the tuberin. Both hamartin and tuberin were expressed in bronchial epithelial cells, cardiac muscles, renal collecting tubules, and neural tissues. The rhabdomyomas stained negatively for tuberin and hamartin. Two genetic loci are responsible for TSC-TSCI and TSC2. The TSC1 gene on chromosome 9 encodes a protein termed hamartin that lacks sequence similarity to any known proteins, whereas the TSC2 gene on chromosome 16 codes for a protein termed tuberin. These results indicate that tuberin and hamartin may play a critical role in development and thus provide a framework for understanding the developmental and hamartomatous manifestations of tuberous sclerosis.

Brain↗
PubMed2004

Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions.

Tuberous sclerosis complex is caused by mutations in tumor suppressor genes TSC1 or TSC2 and is characterized by the presence of hamartomas in many organs. Although tuberous sclerosis complex is a tumor suppressor gene syndrome with classic "second hits" detectable in renal tumors, conventional genetic analysis has not revealed somatic inactivation of the second allele in the majority of human brain lesions. We demonstrate a novel mechanism of post-translational inactivation of the TSC2 protein, tuberin, by physiologically inappropriate phosphorylation, which is specific to tuberous sclerosis complex-associated brain lesions. Additional analysis shows that tissue specificity is due to abnormal activation of the Akt and mitogen-activated protein kinase pathways in brain but not in renal tumors. These results have widespread implications for understanding the tissue specificity of tumor suppressor gene phenotypes.

Astrocytoma↗
PubMed2004

Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber.

In a tuberous sclerosis patient with a mutation in the TSC1 tumor suppressor gene, no second-hit mutation was found in a resected cortical tuber. Tuber giant cells showed predominantly nuclear hamartin, cytosolic tuberin, and hyperphosphorylation of S6. Differential accumulation of hamartin and tuberin in separate cellular compartments of giant cells may prevent formation of the hamartin-tuberin complex, resulting in increased S6 phosphorylation. These data provide an alternative mechanism for tuberogenesis.

Cerebral Cortex↗
PubMed2006

Tuberous sclerosis: a syndrome of incomplete tumor suppression.

Tuberous sclerosis (TS) is a congenital neurocutaneous syndrome (or phacomatosis) characterized by widespread development of hamartomas in multiple organs. For affected individuals, neurological and psychiatric complications are the most disabling and lethal features. Although the clinical phenotype of TS is complex, only three lesions characterize the neuropathological features of the disease: cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas. The latter is a benign brain tumor of mixed neuronal and glial origin. Tuberous sclerosis is caused by loss-of-function mutations in one of two genes, TSC1 or TSC2. The normal cellular proteins encoded by these genes, hamartin and tuberin, respectively, form a heterodimer that suppresses cell growth in the central nervous system by dampening the phosphatidylinositol 3-kinase signal transduction pathway. The authors review the clinical and neuropathological features of TS as well as recent research into the molecular biology of this disease. Through this work, investigators are beginning to resolve the paradoxical findings that malignant cancers seldom arise in patients with TS, even though the signaling molecules involved are key mediators of cancer cell growth.

Animals↗
PubMed1996

Tuberous electroreceptor organs form in denervated regenerating skin of a weakly electric fish.

Weakly electric fish use tuberous electroreceptor organs to detect their own electric fields. We investigated the role of innervation upon regeneration and differentiation of tuberous electroreceptor organs. The left, infraorbital, anterior lateral line nerve of brown ghosts (Apteronotus leptorhynchus) was sectioned, and the proximal stump was dipped in ricin to prevent regrowth. Immediately after denervation, a piece of cheek skin (approximately 0.5 cm2) was removed bilaterally to induce skin regeneration. After survival periods of 3, 4, or 5 weeks, regenerated skin from the left (denervated) and the right (reinnervated) sides was removed and processed for immunocytochemistry or electron microscopy. Tuberous electroreceptor organs were present in regenerated reinnervated, as well as regenerated denervated skin patches at all survival times. With increased time after skin removal, the number of fully differentiated organs increased in the reinnervated regenerated skin while the number of organs with degenerating receptor cells or entirely devoid of receptor cells increased in the denervated regenerated skin. These results suggest that innervation is not essential for tuberous electroreceptor organ development, but that it is necessary for complete sensory cell differentiation and long-term survival.

Animals↗