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At least 19 recordsLinked to original sources
PubMed1976

The abdominal angiographic spectrum of tuberous sclerosis.

Tuberous sclerosis can present with a variety of clinical, roentgenographic and pathological manifestations. Although we are not advocating abdominal angiography in every patient with tuberous sclerosis, the clinical diagnosis may be difficult in certain cases, particularly in the young patient, and abdominal visceral angiography may lead to the correct diagnosis. In two of our patients, infants ten months of age, the diagnosis of tuberous sclerosis was not made until abdominal angiography had been performed. The most common changes are seen in the kidney where angiographic demonstration of hamartomas, arterial aneurysms, and multiple small cysts in the renal parenchyma are noted. Renal microcysts have not been previously described angiographically although they have been noted in pathological specimens and represent an important feature of the disorder spectrum. In addition, vascular hamartomatous lesions may be demonstrated angiographically in other abdominal organs such as the adrenal gland and liver.

Abdomen↗
PubMed1977

Orofacial manifestations in tuberous sclerosis.

Tuberous sclerosis is a rare congenital disorder with characteristic neurologic, dermatologic, and orofacial lesions. There have been very few case reports in the dental literature. Four cases demonstrating the range of orofacial anomalies and problems in management are presented.

Adult↗
PubMed1977

Cranial computertomography in children with tuberous sclerosis.

20 children with tuberous sclerosis were examined by computertomography (CCT). The test is useful to detect cerebral involvement with great certainty. The method is especially helpful in the early diagnosis of the disease. This offers the possibility of giving an early genetic advice. Characteristic CCT scan abnormalities in tuberous sclerosis are multiple densities in the walls and the roof of lateral ventricles. This specific finding can already be seen prior to the occurrence of calcifications in standard roentgenograms.

Adolescent↗
PubMed1979

The early history of tuberous sclerosis.

The early history of tuberous sclerosis can be traced from European wax models of the skin lesions in the 1830s to its recognition as a systemic disease by the early 1900s. There are various origins for the terms used for tuberous sclerosis, including Pringle's disease, Bourneville's disease, adenoma sebaceum, and epiloia. Since these terms are confusing and inaccurate, we urge that they no longer be used.

Adenoma↗
PubMed1979

Brain hamartomas and tumors associated with tuberous sclerosis.

Ventricular tumors of tuberous sclerosis are almost always hamartomas or benign tumors occurring predominantly in children or young adults. No clear gross or histological distinctions between the ventricular "candle gutterings" and "tumors" have been identified. The clinical presentation may be acute, with the sudden onset of increased intracranial pressure and possible serious morbidity (visual impairment) or death. When these tumors are surgically removed or decompressed, the prognosis for life seems to be quite good. Malignant change in these lesions is very rare.

Adolescent↗
PubMed1978

[The place of radiology in tuberous sclerosis (author's transl)].

Tuberous sclerosis is a rare disease in which hamartomas may be found in the brain, the retina, the skin and in other internal organs. The classic form of the disease showing mental retardation, epilepsy and adenoma sebaceum is easily recognised. Incomplete forms, however, can provide considerable diagnostic difficulties. Angiographically, appearances are found which cannot be differentiated with certainty from those of malignant tumours. Malignant tumours are very rare in this condition. Nephrectomy can be avoided if the diagnosis is made at an early stage. Two female patients are reported, in one of whom the diagnosis was made by renal angiography. Despite the presence of large tumours in both kidneys, these organs could be preserved by surgery. In the second patient there were also bilateral renal hamartomas, but surgery was not carried out. Both cases showed typical changes in the fingers and toes as well as intracerebral calcification, and in one the lungs were affected.

Adult↗
PubMed1979

Demyelination of the brain in tuberous sclerosis: computed tomography evidence.

Two patients with tuberous sclerosis are described in whom computed tomography of the head revealed areas of diffuse diminution of density suggestive of demyelination. Computed tomography is a sensitive test for the detection of intracerebral lesions in tuberous sclerosis, and the finding of areas of diminished density in the absence of evidence for tumor or ventricular obstruction correlates with the common histologic finding of diffuse demyelination. Serial studies with computed tomography are likely to determine whether such demyelination precedes the growth of hamartomas and calcification that characterize tuberous sclerosis.

Brain↗
PubMed1979

Bronchial angiofibromata in a suspected case of tuberous sclerosis.

Widespread hamartomatous proliferations are often seen with tuberous sclerosis, yet pulmonary involvement is rare. We describe a patient with a probable forme fruste of tuberous sclerosis in whom the diagnosis of bronchial angiofibromata was made bronchoscopically. This is the first description of this pulmonary manifestation.

Adult↗
PubMed1979

Renal hamartoma (angiomyolipoma) and the tuberous sclerosis complex.

Renal hamartoma is found in 40 to 80 percent of patients with tuberous sclerosis. Microscopic demonstration of fat in the tissues of the mass is felt to be the most reliable diagnostic criterion of hamartoma.Characteristically, the angiographic appearance demonstrates a large, dilated feeding vessel passing through the mass with multiple, multisacculated aneurysmal dilatations appearing like bunches of grapes. There is a delicate neovascularity without A-V shunting and an onion-peel or whorl-like appearance in the venous phase.This case is presented to point out the close association of renal hamartoma and tuberous sclerosis and the need to search for renal hamartoma when the diagnosis of tuberous sclerosis is made.

Adenoma↗
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↗
PubMed1975

Tuberous sclerosis and Klippel-Trenaunay-Weber syndromes. Association of two complete phakomatoses in a single individual.

Tuberous sclerosis and Klippel-Trenaunay-Weber (KTW) syndromes are phakomatoses which are believed to be inherited separately. A 41 year old woman presented with the classic features of tuberous sclerosis: adenoma sebaceum, mental retardation, and seizures. In addition, the diagnostic triad of KTW involved the left lower limb: cutaneous naevi, a vascular anomaly, and osteohypertrophy. Arteriography documented the presence of visceral tumours and an arteriovenous malformation of the leg. This is the first reported association of the fully-developed symptomatology of tuberous sclerosis and KTW in one person.

Adult↗
PubMed1977

Angiofibromas in tuberous sclerosis: a light and electron microscopic study.

Angiofibromas from two patients with tuberous sclerosis were studied by light and electron microscopy. Light microscopy revealed that these tumor-like nodules (which in the past have been called adenoma sebaceum) were made up of dilated capillaries, venules and arterioles embedded in connective tissue. At the ultrastructural level the arterioles embedded in connective tissue. At the ultrastructural level the endothelium of these vessels showed large numbers of microvilli on their luminal surface. The stroma contained many banded structures (so-called fibrous long spacing collagen). Myofibroblasts recently described in juvenile nasopharyngeal angiofibromas were not found in these angiofibromas of tuberous sclerosis.

Adult↗
PubMed1978

[Roentgenographic changes of the skeleton in a case of tuberous sclerosis (morbus Bourneville-Pringle) (author's transl)].

Increasing sclerosis in the thoracolumbar spine has been followed up in a boy suffering from tuberous sclerosis. The earlist abnormality appearing as an irregular density in the radix of the posterior arch of the first lumbar vertebra has been detected at the age of one year. Until the ninth year of life the disease process has involved the vertebral column from T-8 to L-2. During the course roentgenograms revealed several diffuse areas of opacification with ill-defined outlines which tended to merge. As a rule all vertebrae were affected asymmetrically. Neither deformities of the vertebrae nor functional impairment of the axial skeleton have been found. Based on X ray appearance classification of characteristic and accessory bone abnormalities in tuberous sclerosis was discussed.

Bone Diseases↗
PubMed1979

Some new results of investigation of tuberous sclerosis.

The authors describe the case of a patient with tuberous sclerosis. The occurrence of M-protein with antigenous appurtenance of IgM not only in the patient himself but also in some of the healthy blood relations in the family is pointed out. The question of clinical and biochemical-immunological peculiarities occurring in connection with this disease is discussed.

Adenoma↗
PubMed1977

[Tuberous sclerosis in a premature infant (author's transl)].

A sporadic case of tuberous sclerosis in a stillborn infant is reported. The death at the 31st week of gestation was presumably due to the development of enormous rhabdomyomas of the heart. The typical cerebral lesions were fully developed as in patients decreased later in life. The atypical cells found in the cortical tubers demonstrated ultractructural features of reactive astrocytes. Moreover, they showed innumerable microvillilike projections on their surface and junctional complexes, mostly of the zonula adharens type, reminescent of ependymocytes. The significance of such glio-epithelial cellular features is discussed.

Cerebral Cortex↗