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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tuberous sclerosis is a multisystem disorder of autosomal dominant inheritance that has important eye signs which contribute substantially to the diagnosis. The disease has been recognized for over 100 years, classically by the occurrence of the triad of mental retardation, epilepsy and adenoma sebaceum of the face. Children with tuberous sclerosis often present with infantile spasms. Eye manifestations include retinal phakomata which may be granular, white and calcified, or flat, translucent and noncalcified. Additional findings include angiofibromas of the lids, poliosis, retinal and iris depigmentation, and atypical colobomata. Various systemic and ocular signs of tuberous sclerosis may develop over the years. For purposes of both patient management and genetic counselling, diagnosis based on early signs is important. The ophthalmologist may play an important role in this regard, as the characteristic phakomata can often be detected within the first two years of life.
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PMID:Tuberous sclerosis. 408 76

Tuberous sclerosis (TS) is a rare disease of the nervous system, being characterized by seizures, mental retardation and adenoma sebaceum. Concomitant pleuropulmonary lesions and spontaneous pneumothorax are extremely rare during the evolution of this disease. To date, only 19 cases of TS and spontaneous pneumothorax have been described in the literature. Here we present a case of TS and associated pleuropulmonary lesions with spontaneous pneumothorax in a 29-year-old female patient. Clinical, roentgenographic and histological aspects of this disease are commented upon.
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PMID:Tuberous sclerosis and associated pleuropulmonary lesions. 619 62

A pair of female homozygous twins with tuberous sclerosis are presented. Both girls showed focal and generalized seizures from the first month of life and also infantile spasms at eight months. Control of seizures was only obtained on the girl who shows now an intelligence a little lower than her sister continuing with focal and/or generalized crisis at least every month. However, mental retardation is important in both sisters. Hypomelanotic spots on the skin were few and very small in both girls. Computed tomography scan of the head showed wide zones of calcification on cerebral hemispheres in both patients from the first months of life. Density of these calcifications experimented great increase with age.
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PMID:[Bourneville's tuberous sclerosis in twin sisters]. 630 48

The fine structure of cerebral cortex, including cortical tubers, was studied in 3 patients with tuberous sclerosis. Tubers were found to consist of two predominant cell populations, astroglia and small multipolar (stellate) neurons. Both cell types tended to form aggregates within tubers, with glia more prominent in the subpial region. The stellate neurons of tubers had beaded or varicose dendrites with few dendritic spines. The findings suggest that neurons within tubers are an aberrant primitive cell type that fails to express the pyramidal cell shape and dendritic morphology that is characteristic of normal human neocortex. Cortex intervening between tubers had basically normal dendritic morphology. However, quantitative study showed a decrease in the length of dendritic branches of pyramidal neurons, as also observed in several other conditions manifested by mental retardation.
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PMID:Fine structure of cortical tubers in tuberous sclerosis: a Golgi study. 650 41

We report a fifty three year old man who presented with progressive visual loss. Investigation disclosed a giant aneurysm with optic nerve compression, which was successfully treated surgically. The patient had typical skin lesions of tuberous sclerosis, but did not suffer from a seizure disorder or mental retardation. In the past he had had an enucleation for glaucoma secondary to a retinal phakoma. Cerebral aneurysms are discussed in relation to the tuberous sclerosis disease process. After review of the literature, we propose that the aneurysms are secondary to dysplastic change in the vessel walls, this is in keeping with the abnormal tissue proliferations in this disease.
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PMID:Visual loss secondary to a giant aneurysm in a patient with tuberous sclerosis. 651 31

A recent "Tuberous Sclerosis Research Workshop," held in Cambridge, Massachusetts, under the sponsorship of the National Institute of Neurological and Communicative Disorders and Stroke and the Tuberous Sclerosis Association of America, examined the current state of knowledge about this congenital disorder which frequently results in mental retardation. Workshop participants discussed the controversy over whether diagnostic tests based on the presence of hypomelanotic macules in the skin of newborns are sufficiently reliable to warrant legislated mass screening programs such as the one that will take effect in Massachusetts in June 1986. They also considered the likelihood of developing techniques for the prenatal diagnosis of the disorder in the future.
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PMID:Early diagnosis, genetic marker sought for tuberous sclerosis. 658 29

Few reports have dealt with the structural abnormalities shown by the neuropil in mentally retarded patients. This Golgi study describes the morphologic changes observed in a brain biopsy from the cerebral cortex of a patient with Bourneville's disease (epiloia). At the time this study was made, the patient was 12 years old and had had a long history of mental retardation and uncontrollable seizures. She, her father, and three other siblings had classic cutaneous signs of epiloia. A biopsy from the right frontal cortex was immediately fixed by immersion, was processed by both H & E and the Golgi method respectively, and examined by electron microscopy. The Golgi-stained material showed a marked fibrillary gliosis at the upper and lower cortical layers, as well as in the heterotopias; the presence of giant cells, closely resembling immature pyramidal cells, with short dendrites growing from their somata and bearing few spines; some other large cells having features compatible with astrocytes; spiral-like glial processes converging upon distorted apical dendrites; these and some other neuronoglial formations establishing specialized anatomical contacts; unorderly arrangement of small and large pyramids within an abnormally compact cortex; abnormal dendritic growths at the level of dendrite bifurcations; and several aberrant patterns of spine morphology, including the megaspine. This first application of the Golgi method to the study of neuropathologic features of epiloia suggests that a poorly developed neuronal circuitry led to the abnormal brain function observed in this case. The same anatomical substrate may occur in other cases of mental retardation.
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PMID:Abnormal dendritic patterns and aberrant spine development in Bourneville's disease--a Golgi survey. 671 54

Tuberous sclerosis was diagnosed in 21 patients (13 female, 8 male) at an age of 3 months to 17 years, 8 of them being younger than 1 year at the time of diagnosis. 14 cases occurred sporadic, 7 patients had a positive familial history of the disease. The diagnosis was based on typical cutaneous lesions (white spots in 19, adenoma sebaceum in 12), cerebral seizures (20 patients) and intracranial calcifications which were found in all 17 patients who were investigated by cranial computerized tomography, especially in all 5 patients who were investigated in the first year of life. In addition two patients showed tumors arising from the region of the frontal horns. Histological examination which was performed in one of them showed the typical picture of a subependymal giant cell astrocytoma. Seizures occurred within the first year of life in 15 of 20 patients. The most common seizure type were infantile spasms (11 patients), grand mal (10 patients) and partial seizures (7 patients). In two children Todd's palsies were observed. Mental retardation of variable degree was observed in 11 patients. Cystic renal lesions were found in one patient with severe haematuria and they were suspected in 3 others on ultrasonographic examination. Retinal phakoma was found in only one patient, cardial rhabdomyoma was suspected in another one who suffered from congenital multifocal atrial tachycardia. The diagnosis in the first year of life was based upon the typical trias of white spots, seizures and intracranial calcifications on CT examination.
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PMID:[Tuberous sclerosis. Clinical and computer tomography findings in infancy and childhood]. 672 96

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by adenoma sebaceum, mental retardation, and epilepsy. Pulmonary disease with spontaneous pneumothorax is a rare complication with this disease. We have recently seen two patients with this complication. A review of the literature reveals 17 other patients with spontaneous pneumothorax and tuberous sclerosis. Eight of these died of pneumothorax. Fifty-three percent of the patients, including all those who died, had normal intelligence. The pathological and roentgenographic findings of the disease are discussed. Recommendations for therapeutic management are given.
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PMID:Spontaneous pneumothorax associated with tuberous sclerosis. 705 3

We report a girl with tuberous sclerosis. Diagnostic criteria when she was 6 years included mental retardation, seizures and characteristic skin lesions. Disease was revealed in the first 4 months of life by marked abdominal distension due to polycystic kidney disease. This case is strikingly similar to those recently published in the pediatric literature. The similarity is further increased by histological data concerning changes in the epithelium of the cyst, that seem to be specific; the early recognition of these changes should lead to a diagnosis of tuberous sclerous sclerosis in the first months of life.
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PMID:[Tuberous sclerosis presenting early in life as a polycystic kidney disease (author's transl)]. 706 19


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