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PubMed1995

Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.

Multifocal renal cell carcinomas (RCCs), together with angiomyolipomas (AMLs) and renal cysts, were identified in early adult life in two sisters with tuberous sclerosis (TSC). They were members of a multigenerational tuberous sclerosis family showing strong evidence for a mutant TSC causing gene on chromosome 9 (TSC1). Previous reports of multifocal RCC in young patients with TSC suggest that constitutional mutations at the TSC loci may predispose to RCC. In the rat a germline mutation affecting the TSC2 gene is associated with transmission of multifocal RCC as an autosomal dominant trait. However, the cases reported here are the first to suggest a similar role for the TSC1 gene in renal cell carcinogenesis.

Adenocarcinoma, Clear Cell↗
PubMed2002

Tuberous sclerosis presenting in late adult life.

A 59 year old woman presented with a three year history of left sided weakness. Magnetic resonance imaging of the brain showed a large high signal lesion occupying most of the right temporal lobe with mass effect. A probable diagnosis of low grade glioma led to temporal lobectomy. Histology revealed dysplastic cortical morphology typical of tuberous sclerosis. There were no clinical signs or family history of the disease. Ultrasound showed multiple bilateral renal angiomyolipomas, confirming the diagnosis of tuberous sclerosis. Molecular genetic analysis of peripheral white blood cells identified a novel mis-sense mutation R1409W in exon 33 of the TSC2 gene.

Brain↗
PubMed1987

Chronic renal failure and tuberous sclerosis: a rare association.

A 38 year old Saudi patient with tuberous sclerosis and chronic renal failure is described. The association of these two conditions has rarely been described. This case supports the observation that when chronic renal failure occurs in patients with tuberous sclerosis, cystic renal disease (with or without hamartomas) is more likely to be the underlying cause, rather than hamartomas alone.

Adult↗
PubMed1994

Cardiac involvement (Wolff-Parkinson-White syndrome) in tuberous sclerosis.

A surface electrocardiogram showing type B Wolff-Parkinson-White syndrome pattern was part of the cardiac findings in a female of 24 with florid features of tuberous sclerosis. She had cardiomegaly but no intracardiac tumour was demonstrated. Wolff-Parkinson-White syndrome, though rare, has previously been described in association with tuberous sclerosis in children but not before in adults.

Adenoma↗
PubMed1978

Radiologic findings of hamartomas of the tuber cinereum and hypothalamus.

Five cases, four histologically proved, or hamartoma of the tuber cinereum and hypothalamus in children (age range: 2--12 years) are reported. Three cases had pubertas praecox, and in all of these the hamartoma was located in the basal cistern between the chiasm and pons, and had a collar button shape and size typical of hamartoma of the tuber cinereum. In the third case, which presented with headache, a huge calcified mass in the suprasellar region was initially thought to be craniopharyngioma. The fourth case had a hamartoma within the substance of the hypothalamus and presented with hyponatremia and temporal lobe seizures.

Brain Neoplasms↗
PubMed1983

Cystic renal disease in tuberous sclerosis.

The clinical and radiologic findings of tuberous sclerosis in three family members, which manifested as renal insufficiency due to extensive renal cystic disease, are described. The family was thought to have polycystic kidney disease until coexisting tiny angiomyolipomas were found among the cysts (by computed tomography in two patients and at autopsy in one). The radiologic and pathologic factors that establish the diagnosis of renal cystic disease associated with the tuberous sclerosis complex are reviewed.

Adolescent↗
PubMed1984

Intracranial tuberous sclerosis in infancy.

Transfontanelle sonograms and CT scans of the brain were obtained in 2 infants with tuberous sclerosis. Each modality showed typical subependymal nodules in both infants, as well as a large mass adjacent to the foramen of Monro in one of them; in the other, peripheral cortical tubers were clearly outlined with CT but not detected by ultrasound.

Humans↗
PubMed1988

Tuberous sclerosis: characteristics at CT and MR imaging.

Computed tomography (CT) and magnetic resonance (MR) imaging findings were reviewed in 26 patients with tuberous sclerosis. All patients underwent CT; 16 patients underwent both. The CT features included subependymal nodules in 25 of 26 patients (96%) and calcifications in 23 of 26 (88%). Parenchymal hamartomas (cortical tubers) were seen in 23 of 26 patients (88%). These lesions had less attenuation than surrounding brain in 16 of 26 patients (62%) and were calcified in 14 of 26 patients (54%). Contrast enhancement of a lesion, indicating a subependymal giant cell astrocytoma, occurred in three of 26 patients (12%). The MR imaging characteristics included subependymal nodules (periventricular nodules) of intermediate signal intensity in ten of the 16 patients (63%). Parenchymal hamartomas, demonstrated in 15 of the 16 patients (94%), usually exhibited long T1 and T2 relaxation characteristics. The pattern was noted to be reversed in the two newborn patients (13%). One parent demonstrated a forme fruste at CT but had a normal MR image.

Adolescent↗
PubMed1992

MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review.

Findings on cranial magnetic resonance (MR) images were correlated with known histopathologic findings in 42 patients with tuberous sclerosis (TS), 17 of whom received gadopentetate dimeglumine, to extend the range of signs on MR images. Four neuroradiologists recorded the number, sites, configurations, and relative signal intensities of intracranial abnormalities. White matter lesions, found in 39 patients (93%), showed four distinct patterns: (a) straight or curvilinear bands extending radially from the ventricle through the cerebral mantle toward the cortex, (b) wedge-shaped lesions, (c) nonspecific conglomerate foci, and (d) cerebellar radial bands. It is concluded that cortical tubers, white matter lesions, subependymal nodules, and sub-ependymal giant cell astrocytomas (SGCAs) may be enhanced after administration of gadopenetetate dimeglumine. Enhancement of a TS lesion does not indicate neoplastic transformation into SGCA. Imaging surveillance every 12 months appears indicated during the peak ages (8-18 years) of occurrence of SGCA. The appearance of white matter lesions supports the theory that the cerebral lesions of TS may be caused by disordered migration of dysgenetic cells.

Adolescent↗
PubMed2001

Symptomatic unilateral renal angiomyolipoma in a child with tuberous sclerosis.

We report a case of unilateral renal angiomyolipoma in a 10-year-old boy with tuberous sclerosis. The case is worthy of attention because the symptoms occurred at an early age and because the lesion was unilateral, the latter confirmed at 11-year follow-up. The presentation and treatment are discussed, and the pertinent literature is reviewed. The case demonstrates that it is of clinical importance to monitor renal involvement in children with tuberous sclerosis.

Angiomyolipoma↗
PubMed2002

An unusual tuberous sclerosis case presenting with fibrillary astrocytoma.

Tuberous sclerosis (TS) is an autosomal dominant disorder. It is characterized by hamartomatous lesions in various organs such as the brain, skin, kidneys and heart. Subependymal and parenchymal nodules occur in the cerebrum. Although giant cell astrocytoma may develop from these subependymal nodules, tumor formation is very rare in the cortical nodules. We present the clinical, computed tomography and magnetic resonance imaging findings of a fibrillary astrocytoma originating from a cortical tuber in a 4-year-old female with TS.

Astrocytoma↗
PubMedDate not supplied

Autofluorescence and angiographic findings of retinal astrocytic hamartomas in tuberous sclerosis.

OBJECTIVE: To describe fundus autofluorescence (AF), fluorescein angiography (FA) and indocyanine green angiography (ICGA) in different types of retinal astrocytic hamartomas in tuberous sclerosis (Morbus Bourneville-Pringle). METHODS: Two eyes with 8 lesions, i.e. type 1 (n = 7) and type 3 (n = 1), were examined. AF pictures were taken prior to injection, FA and ICGA images were obtained in the early and the late phase. To achieve additional cases, a systematic literature review with exten- sive Internet and library search was performed. RESULTS: Strong AF was seen in type 2 and type 3 retinal astrocytic hamartomas, whereas type 1 lesions blocked the physiologic fundus AF. Fluorescence angiography of all types of lesions revealed hypofluorescence in early frames and hyperfluorescence originating from leakage in late frames. ICGA showed a subtle blockade in type 1, a total blockade in type 2 and in the central part and a partial blockade in the peripheral part in type 3 lesions. CONCLUSIONS: Retinal astrocytic hamartomas in tuberous sclerosis can be easily detected by angiography, especially type 1 lesions which are difficult to visualize by funduscopy. Early- and late-phase fluorescein angiography and ICGA are helpful to differentiate the three lesion types.

Astrocytes↗
PubMed1995

On the treatment of subependymal giant cell astrocytomas and associated hydrocephalus in tuberous sclerosis.

Between 1980 and 1992, 10 children affected by tuberous sclerosis and intraventricular subependymal giant cell astrocytomas were surgically treated at the Institute of Neurosurgery, Section of Pediatric Neurosurgery, Catholic University of Rome. Nine patients presented with signs and/or symptoms of intracranial hypertension; in all of them the neuroradiological investigations demonstrated the presence of a space-occupying lesion in the region of the foramen of Monro with secondary ventricular dilation. In the remaining patient, a 5-month-old male infant, an intraventricular mass was discovered by means of an ultrasound examination performed after the first epileptic fit. Three patients underwent a ventriculoperitoneal CSF shunt as first surgical procedure; in 2 of them it was subsequently necessary to remove the intraventricular tumor due to the frequent occlusion of the CSF shunt device. Seven subjects underwent the direct surgical excision of the lesion. In all of them the procedure resulted in the control of the associated hydrocephalus. On the basis of such an experience, the authors conclude that the surgical removal of the intraventricular tumors in patients with tuberous sclerosis and hydrocephalus is the most appropriate treatment. In fact, in the series considered here, the removal of the tumor was not accompanied by significant morbidity, and was followed by improvement in clinical conditions. In particular, in cases in whom the occurrence of hydrocephalus was associated with a worsening in the seizure disorder, the tumor removal and the correction of intracranial hypertension was followed by a significant reduction in frequency or even by the disappearance of the seizures. However, in no case presenting with mental impairment was a significant improvement observed in mental performances as a consequence of the surgical treatment.

Adolescent↗
PubMed1994

Bilateral renal angiomyolipomatosis in tuberous sclerosis presenting with chronic renal failure: case report and review of the literature.

A 45-year-old patient with tuberous sclerosis and bilateral renal angiomyolipomas who presented with chronic renal failure is reported. Although bilateral renal angiomyolipomas are commonly associated with tuberous sclerosis, the occurrence of chronic renal failure in the absence of associated cystic disease of the kidneys as seen in this patient is very rare.

Angiomyolipoma↗
PubMed1990

Tuberous sclerosis with pulmonary involvement.

Pulmonary involvement in tuberous sclerosis (pTS) is very rare and seems to be associated with a more benign course, compared to tuberous sclerosis without pulmonary manifestation (TS). Furthermore, pTS seems to be related to lymphangiomyomatosis (LAM). We present the case of a 33-year-old woman in whom the overlap of TS, pTS and LAM is demonstrated. Treatment with medroxyprogesterone was initiated, but without success.

Adult↗
PubMed1997

Unilateral agminated angiofibromas: a segmental expression of tuberous sclerosis?

We present a case of acquired unilateral agminated angiofibromas in a 26-year-old patient with onset at the age of 18. He developed over 100 pigmented dome-shaped papules on the left side of his nose, cheek and chin. Histological examination showed acanthosis and dermal capillary proliferations, fibrosis and lymphohistiocytic infiltrates. Staining with CD-31 showed increased vascular formation in the dermis. Staining for S-100 protein, HMB-45, NKIC-3 and Masson-Fontana staining showed no nevocytes or melanocytes in the dermal tissue, suggesting that the lesions are a segmental expression of tuberous sclerosis. However, multiple agminated angiofibroma without a relationship to tuberous sclerosis or a nevocytic or melanocytic formation cannot be ruled out for certain.

Adult↗
PubMedDate not supplied

Imprint cytology of epithelioid angiomyolipoma in a patient with tuberous sclerosis. A case report.

BACKGROUND: Angiomyolipoma composed predominantly of epithelioid cells has been referred to as epithelioid angiomyolipoma. As this subtype shows considerable cellular atypia, it may be erroneously diagnosed as malignant epithelioid tumor, such as renal cell carcinoma and hepatocellular carcinoma. So far, only one report describing the cytologic findings of epithelioid angiomyolipoma has been documented, and epithelioid angiomyolipoma occurring in the peritoneal cavity has not been reported. CASE: Eleven years after resection of a renal epithelioid angiomyolipoma in a 34-year-old male with tuberous sclerosis, a tumor appeared in the peritoneal cavity and three masses in the liver. The intraoperative smears imprinted from part of the peritoneal mass revealed many large, atypical cells. The well-preserved atypical cells showed abundant, round to polyhedral, granular cytoplasm. Bizarre, giant nuclei with hyperchromasia and huge nucleoli were occasionally seen. Intranuclear cytoplasmic inclusions and mitotic figures were occasionally observed. As the epithelioid cells were markedly pleomorphic, we could not rule out hepatocellular carcinoma, cytologically and histologically, in the intraoperative consultation. In permanent sections the tumor was composed predominantly of epithelioid cells showing an alveolar pattern or sheetlike arrangement. Mitotic counts were zero to one per 10 high-power fields. Immunohistochemically, the epithelioid tumor cells were positive for vimentin, alpha-smooth muscle actin and HMB-45, consistent with epithelioid angiomyolipoma. MIB-1-labeling index was 1.6%. CONCLUSION: When one sees atypical epithelioid tumor cells in a tuberous sclerosis patient during an intraoperative consultation, one must consider epithelioid angiomyolipoma.

Actins↗