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At least 631 records · Page 35Linked to original sources
PubMed1996

Deciduous teeth in tuberous sclerosis.

Shed deciduous teeth from patients with tuberous sclerosis, cerebral palsy, Down syndrome, phenylketonuria and healthy persons were examined with a surface microscope. We found enamel pits in all 87 deciduous teeth from the 20 patients with tuberous sclerosis, but in none of the 253 deciduous teeth from 142 controls constituting patients with cerebral palsy, phenylketonuria and Down syndrome as well as healthy persons. Enamel pits always occurred in the facial surface of the central incisor, lateral incisor and canine, while the number of enamel pits in the other surfaces of the deciduous teeth varied from none to nine. Ground sections examined microscopically revealed an undisturbed pattern of incremental lines (Retzius striae) surrounding the pits. In five dental sacs from patients with tuberous sclerosis, microscopic examination showed that the inner surface of the operculum was remarkably more irregular than in control patients.

Adolescent↗
PubMed1996

Hepatic angiomyelolipoma and tuberous sclerosis.

A patient with angiomyelolipoma of the liver, together with radiological evidence of pancreatic, renal and bony lesions characteristic of tuberous sclerosis, is described. Although the patient had no other clinical features of tuberous sclerosis, her daughter was found to suffer from the classical triad of this syndrome and also has had hepatic lipomatous lesions and bony involvement. This is the first histologically proven case of hepatic angiomyelolipoma associated with tuberous sclerosis.

Angiolipoma↗
PubMed1991

Two unusual tumours of the gastrointestinal tract in a patient with tuberous sclerosis.

A 16 year old girl with an established diagnosis of tuberous sclerosis presented with a 1 year history of swelling of the left cheek. A 2 cm diameter tumour was excised which showed histological features of a solid variant of a minor salivary gland basal cell adenoma. One year later during laparotomy and excision of multiple renal angiomyolipomas, a 5 cm diameter subserosal tumour was found at the hepatic flexure of the colon. Examination of biopsy material revealed a leiomyoma. This case is presented to demonstrate two tumours that have not to the authors' knowledge been previously described in a young patient with tuberous sclerosis. Although the association may be coincidental, these tumours could represent two rare associations of tuberous sclerosis.

Adenoma↗
PubMed1983

Glial fibrillary acidic protein in tuberous sclerosis.

We examined two cases of tuberous sclerosis for the presence of glial fibrillary acidic protein (GFAP) using the immunoperoxidase technique. The majority of abnormal giant cells in the cerebral cortex showed no reaction to anti-GFAP. Some abnormal cells in the cortical tuber and white matter showed a weak positive reaction. All of the subependymal tumor cells showed no GFAP in their cytoplasm. The abnormal giant cells in tuberous sclerosis, morphologically similar to gemistocytic astrocyte, are not accompanied by antigenic properties of GFAP.

Adolescent↗
PubMed1997

Bilateral chromophobe cell renal carcinoma in tuberous sclerosis complex.

We report on a patient with tuberous sclerosis complex and polycystic kidney disease who developed bilateral chromophobe cell renal carcinoma. We discuss the tuberous sclerosis complex, associated bilateral renal cell carcinoma, polycystic kidney disease and chromophobe cell renal carcinoma; a recently established subtype with a rather favorable prognosis. In a patient with tuberous sclerosis complex and multiple space-occupying lesions, a diagnosis of angiomyolipoma should be considered first but bilateral and/or multifocal renal cell carcinoma is a likely diagnosis.

Adult↗
PubMed1980

Tuberous sclerosis presenting as diaphragmatic hernia in a newborn.

A case of tuberous sclerosis in a preterm newborn baby is described, in whom there were also multiple rhabdomyomas of heart, diaphragmatic hernia, giant-cell astrocytoma of lateral ventricle and malrotation of the intestine. This is the first report of an association of tuberous sclerosis with diaphragmatic hernia. The presence of multiple congenital malformations supports the theory that tuberous sclerosis represents multi-germ layer dysplasia.

Astrocytoma↗
PubMed1991

Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings.

The neuropsychological performances, outcome of epilepsy and MRI topography of tubers of 23 children with tuberous sclerosis were reviewed. Seven children had normal intelligence, 10 had mental retardation, and six mental retardation and autism. An adverse association was found between the number of lesions and IQ, behaviour and severity of epilepsy. Posterior lesions, in addition to frontal-lobe dysfunction, were observed in children with autism. Tuberous sclerosis with well-defined cerebral lesions may represent a model for the relationship between different neuropsychiatric problems.

Adolescent↗
PubMed1998

Analysis of ictal EEGs of epilepsy associated with tuberous sclerosis.

PURPOSE: To investigate the significance of cortical pathology of tonic spasms in patients with tuberous sclerosis. METHODS: The subjects were 38 patients with epilepsy associated with tuberous sclerosis. We analyzed ictal EEGs of tonic spasms and partial seizures by means of video-EEG monitoring for a total of 763 tonic spasms in 20 patients and 107 partial seizures in 15 patients. We also investigated the relation between partial seizures and magnetic resonance imaging (MRI) findings of these patients. RESULTS: Ictal EEG patterns of tonic spasms were divided into generalized and focal patterns. Thirteen patients had only generalized patterns, whereas seven had both patterns. In five patients who had focal ictal patterns of tonic spasms and partial seizures, the location of focal patterns corresponded with the location of onset of partial seizures. Focal discharges were seen immediately before, after, and in the middle of tonic spasms in series in 13 patients. The location of focal discharges also corresponded with the location of the onset of partial seizures in 10 of the 13 patients. Regarding partial seizures, four patients had multiple active epileptogenic foci during the same period, and two others had shifting epileptogenic foci with increasing age. CONCLUSIONS: These findings indicate that cortical pathology plays an important role in the occurrence not only of partial seizures but also of tonic spasms in patients with tuberous sclerosis.

Adult↗
PubMed1991

Ophthalmic manifestations of tuberous sclerosis.

The ophthalmic manifestations of tuberous sclerosis include a variety of nonretinal ophthalmic findings which, other than adenoma sebaceum of the lids, are uncommon. Approximately half the patients with tuberous sclerosis have retinal or optic nerve hamartomas; in half of these patients the hamartomas occur bilaterally. Three basic morphologic types of retinal hamartomas are recognized: the most common type is a subtle, relatively flat, smooth-surfaced, salmon-colored, semitransparent, and circular or oval-shaped lesion located in the superficial retina, most commonly near or at the posterior pole. The second type is an easily recognized opaque, white, elevated, multinodular calcified lesion that is frequently described as resembling a mulberry. A third type of lesion contains features of the other two, being calcified and nodular centrally, whereas its perimeter is semitranslucent, smooth, and salmon-colored. The hamartomas may be richly vascularized. They generally do not grow, but over decades some of the lesions may become calcified. Visual loss from retinal and optic nerve hamartomas rarely occurs. Because growth and change of the fundus lesions are rare, treatment is not indicated. Retinoblastoma of the optic nerve and retina is the most important lesion that must be differentiated from the hamartomas seen with tuberous sclerosis.

Blindness↗
PubMed1989

Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value.

Echocardiography was performed in 60 people with tuberous sclerosis to ascertain the prevalence and course of cardiac rhabdomyomata at different ages. Twenty five (58%) of 43 children had tumours, but only three (18%) of 17 adults. The tumours tended to remain the same size through childhood. Only three infants were included but evidence from this and some published case reports suggest that the tumours tend to regress in early infancy and again in adolescence. The prevalence of tumours in young infants with tuberous sclerosis is likely to be considerably above 50%. As other signs of tuberous sclerosis are usually absent at this age echocardiography may afford the most useful diagnostic test in early infancy.

Adolescent↗
PubMed1992

Incidence of hepatic hamartomas in tuberous sclerosis.

Hepatic hamartomas were thought to be a rare finding in patients with tuberous sclerosis. The purpose of this study was to assess their incidence in children with tuberous sclerosis and to review the literature. During 1984-90 we examined 51 children by ultrasonography; there were 25 boys and 26 girls. Their age ranged from 3 months to 18 years. Liver hamartomas were seen in 12 (23.5%) of the children, more often in girls than boys (5:1). Their incidence increased with age reaching 45% in children over the age of 10. They did not produce any symptoms of hepatic dysfunction. Our study and review of reported cases prove that hepatic hamartomas are a common finding in patients with tuberous sclerosis and may be very helpful in providing a more accurate diagnosis and consequently help in genetic counselling.

Adolescent↗
PubMed1994

Cardiac involvement in tuberous sclerosis.

OBJECTIVE: To assess the incidence, importance, and history of cardiac involvement in infants and children with tuberous sclerosis. DESIGN: Prospective study; clinical examination, sector and Doppler echocardiography, standard and ambulatory electrocardiography. SETTING: A tertiary referral centre. PATIENTS: 21 patients with tuberous sclerosis aged 1 day to 16 years (mean 6.3 years); follow up investigations were available in 14 cases (10 retrospective, 4 prospective; mean follow up 4.3 years). RESULTS: Multiple cardiac rhabdomyomas in the right ventricle (11) and left ventricle (14) as well as in the right atrium (1) were present in 14/21 patients. Two of them had obstruction of the left ventricular inflow and outflow tract related to a tumour. In the remaining 7 patients, echocardiography was normal in 4 and equivocal in 3 cases. The standard electrocardiogram (n = 20) showed ventricular hypertrophy (2), ventricular pre-excitation (1), arrhythmias (2), and repolarisation disturbances (4) in 7/13 patients with rhabdomyomas but was normal in all patients with a normal or equivocal echocardiogram. The ambulatory electrocardiogram (n = 19) showed frequent premature atrial (2) and polymorphous ventricular (2) contractions. The polymorphous ventricular contractions coexisted with rhabdomyomas. No arrhythmias that needed medical treatment were found. Follow up investigations showed return to a normal standard electrocardiogram in 3 patients. Definite regression or complete disappearance of the tumour occurred in 6 infants. CONCLUSIONS: Cardiac rhabdomyomas, although often present in these patients with tuberous sclerosis, caused neither major arrhythmias nor haemodynamic obstruction except in the neonatal period. The indication for operation is limited to cases with life threatening obstruction or arrhythmias refractory to medical treatment.

Adolescent↗
PubMed1991

Tuberous sclerosis and parathyroid adenoma.

Very little is known about the pathogenesis of tuberous sclerosis. Over the past 10 years, however, increasing numbers of reports on adenomatous diseases in association with tuberous sclerosis have been published. A case of hypercalcaemia and parathyroid adenoma in association with tuberous sclerosis is presented, of which there has been one such report published previously. This association might be another manifestation of this complex disease: it is therefore recommended that plasma calcium concentrations should be measured in such patients.

Adenoma↗
PubMed1993

Variability of expression in tuberous sclerosis.

We present three families in whom a diagnosis of tuberous sclerosis is difficult to secure and we review published reports about similar cases. Tuberous sclerosis has been reported to affect as many as 1 in 9400 subjects in the population. The manifestations of this disease vary not only between but also within families. Currently no reliable method of prenatal diagnosis is available. For these reasons, subjects known to be at 50% risk should be assessed scrupulously to clarify their status. These cases illustrate the difficulties in the clinical diagnosis of tuberous sclerosis and further reinforce the need for a molecular method of determining whether an at risk subject has the disease.

Adolescent↗
PubMed1998

Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.

A large Dutch family had been known for many years to be affected with skin tumours labelled as adenoma sebaceum, which were inherited in an autosomal dominant fashion. Since this skin sign is considered pathognomonic for tuberous sclerosis complex, the condition in the family was labelled accordingly, in the absence of further clinical features of tuberous sclerosis complex-like mental retardation or epilepsy. The skin changes started at early puberty with small eruptions around the nose and progressed to larger tumours, with considerable variation in severity. Some affected members had required plastic surgical reconstruction following excision. Linkage analysis in this family was performed for the two chromosomal regions involved in tuberous sclerosis complex on chromosomes 9q34 and 16p13, but no positive linkage was found. On critical re-evaluation of the clinical and pathological data and renewed assessment, the working diagnosis was changed to autosomal dominant cylindromatosis. The recently published candidate region for cylindromatosis on chromosome 16q12-13 was subsequently proven to be positively linked with a lod score of 3.02 with marker D16S308. Review of pathological specimens confirmed the diagnosis of cylindromatosis. DNA analysis of tumour tissue showed loss of heterozygosity for the cylindromatosis CYLD1 locus. These results confirm the candidate locus for cylindromatosis on chromosome 16q12-13.

Adenoma↗
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↗
PubMed1999

Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis.

OBJECTIVES: Intraventricular astrocytomas (subependymal giant cell astrocytomas) of tuberous sclerosis have a poor prognosis due to the obstruction of CSF flow. The aim of this study was to determine whether they could be differentiated during childhood and at an early preclinical stage, from subependymal nodules without any growing potential. METHODS: The first two MRIs of all children referred to this neuropaediatric centre between 1987 and 1996 were retrospectively blindly reviewed. RESULTS: Out of 60 patients, 24 disclosed subependymal nodules localised near the foramen of Monro, and eight of the 24 developed astrocytomas. Subependymal nodules were first detectable on MRI from 1 year of age in all cases and the first MRI evidence of growth occurred between 1 and 9 years (mean 4 years). At an early stage, subependymal nodules had different characteristics in patients who developed subependymal giant cell astrocytomas from those who did not. The nodules over 5 mm in diameter that were incompletely calcified and enhanced by gadolinium were at higher risk of growing, particularly in children with a familial history of tuberous sclerosis. To detect the subependymal giant cell astrocytomas earlier in tuberous sclerosis, it is advisible to systematically perform an MRI examination before 2 years of age and to repeat it every year if the patient has risk factors for developing astrocytomas.

Brain Neoplasms↗
PubMed2003

GABA(A) receptor active steroids are altered in epilepsy patients with tuberous sclerosis.

BACKGROUND: The neuroactive steroid 3alpha, 5alpha-tetrahydroprogesterone is the most potent endogenous positive modulator of gamma-amino-butyric acid (GABA)(A) receptors. There is evidence for a relation between neuroactive steroids and seizure susceptibility. OBJECTIVE: To evaluate the putative role of counteregulator neuroactive steroids in the occurrence of seizures in patients with tuberous sclerosis. METHODS: Plasma concentrations of the enantiomers 3alpha, 5alpha- and 3alpha, 5beta-tetrahydroprogesterone (3alpha(s)-THP), which are positive modulators of GABA(A) receptors, were measured in 18 patients, along with their endogenous functional antagonists 3beta, 5alpha- and 3beta, 5beta-THP (3beta(s)-THP), to assess their possible modification compared with control subjects. Neuroactive steroids were assayed using a highly sensitive and specific gas chromatographic/mass spectrometric method. RESULTS: In the tuberous sclerosis patients with poorly controlled seizures, there was a significantly lower 3alpha(s)/3beta(s)-THP ratio than in seizure-free patients or control subjects. CONCLUSIONS: The reduced 3alpha(s)/3beta(s)-THP ratio may decrease GABAergic tone, contributing to the appearance of seizures in tuberous sclerosis patients with epilepsy.

Adolescent↗