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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 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

Tuberous sclerosis is characterized by epilepsy, mental retardation, and adenoma sebaceum. Computerized axial tomography (CAT) is a noninvasive laboratory test that can assist in the diagnosis of this syndrome radiologically. A positive CAT scan is often present before the calcifications are noted on skull x-rays and the pathognomonic cutaneous findings appear. Four cases of tuberous sclerosis are presented with their diagnostic CAT scan findings.
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PMID:Computerized axial tomography in the early diagnosis of tuberous sclerosis. 720 90

Tuberous sclerosis classically presents a triad of mental deficiency, seizures and adenoma sebaceum. Among the ocular manifestations are astrocytic hamartomas in the retina. This paper describes the case of a 24-year-old man with tuberous sclerosis who had recurrent vitreous hemorrhage from a large epipapillary astrocytic hamartoma in the left eye. Pars plana vitrectomy cleared the vitreous and bimanual bipolar coagulation of tumor bleeding points was done. Fragments of the friable tumor were obtained with the vitrectomy instrument and were prepared for tissue culture, histology, and electron microscopy. Although pars plana vitrectomy offers certain advantages over other methods of biopsy, it does present a danger of extraocular seeding of malignant cells; therefore, it is not recommended in cases with probable intraocular malignancy.
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PMID:Vitreous hemorrhage complicating retinal astrocytic hamartoma. 728 Sep 93

Of 62 children seen at The Hospital for Sick Children, Toronto, who had tuberous sclerosis (TS), 58 had a history of seizures (developing during the first year of life in 37) and mental retardation was diagnosed in 51. Classic congenital hypopigmented patches were present in 42 and adenoma sebaceum occurred in 26 of the patients. Computed tomography (CT) is an essential diagnostic tool. We conclude that TS is more common than has been believed. Seizures are the most common manifestation of the disease and the hypopigmented patches, its first cutaneous manifestation, are present at an early age. When a positive diagnosis has been made, parents and siblings should be examined for signs of TS, keeping in the mind the wide spectrum of findings in this condition; if not stigmata are present on examination, then a CT scan should be considered for parents of reproductive age so that proper genetic counseling can be given.
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PMID:Tuberous sclerosis complex in children. 729 92

Cystic disease of the lungs with focal nodular adenomatoid proliferation is among the least common pathologic stigmas of tuberous sclerosis. It tends to develop in adult life, occurs more commonly among female patients who do not have mental retardation and epileptic seizures, and may be rapidly fatal after the onset of respiratory symptoms. Reported here is one such case, that of a 45-year-old woman who had, in addition to the pulmonary involvement, cerebral tubers, retinal phakomas, adenoma sebaceum, subungual fibromas, renal angiomyolipomas, cardiac angiofibroma, hepatic angiomas, and thyroid adenoma. This is also the first patient in whom pulmonary function tests by body plethysmography were performed, which aids our understanding of the pathophysiology of respiratory failure in tuberous sclerosis.
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PMID:Cystic disease of the lungs in tuberous sclerosis: clinicopathologic correlation, including body plethysmographic lung function tests. 741 9


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