Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neurofibromatoses (NF1 and NF2) are genetic diseases with an extremely wide range of manifestations, particularly NF1. In order to gain insight into their prognosis, we have conducted a follow-up study of 100 patients with neurofibromatoses, 89 NF1 patients and 11 NF2 patients all of them presenting neurological manifestations. Four deaths occurred in the NF1 group (3 neurofibrosarcomas) and two in the NF2 group (after neurosurgery). We describe a series of NF1 brainstem tumors as being pilocytic astrocytomas, much less aggressive than non-NF1 brainstem tumors but more symptomatic than brainstem UBOs ('unidentified bright objects') in NF1. The series of optic nerve tumors also demonstrate the poor and non-progressive evolution of tumors with the same histopatological estructure. Hydrocephalus related to aqueductal stenosis is a frequent and tratable manifestation in NF1 patients. Data are presented which suggest that a severe form of NF2 is much more frequent than a mild form but it is rule that number and progressivity of tumors render the prognosis always severe in NF2 patients. A long term follow-up study has been carried among 20 patients with tuberous sclerosis: patients who presented seizures before the age of 5 years have mental retardation in spite of disappearing, often spontaneously, the seizures. The initial symptoms in Von Hippel-Lindau patients depend often on the hemangioblastoma of the spinal cord and a strict control is proposed for patients with risk of suffering spinal-cerebello-retino hemangioblastomatosis. Other phakomatoses are also being considered in their general prognosis.
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PMID:[Natural evolution of neurocutaneous syndrome in adults]. 875 48

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and hamartomatous lesions. Although hamartomas can occur in almost any organ, they are most common in the brain, kidney, heart, and skin. Allelic loss or loss of heterozygosity (LOH) in TSC lesions has previously been reported on chromosomes 16p13 and 9q34, the locations of the TSC2 and TSC1 genes, respectively, suggesting that the TSC genes act as tumor-suppressor genes. In our study, 87 lesions from 47 TSC patients were analyzed for LOH in the TSC1 and TSC2 chromosomal regions. Three findings resulted from this analysis. First, we confirmed that the TSC1 critical region is distal to D9S149. Second, we found LOH more frequently on chromosome 16p13 than on 9q34. Of the 28 patients with angiomyolipomas or rhabdomyomas, 16p13 LOH was detected in lesions from 12 (57%) of 21 informative patients, while 9q34 LOH was detected in lesions from only 1 patient (4%). This could indicate that TSC2 tumors are more likely than TSC1 tumors to require surgical resection or that TSC2 is more common than TSC1 in our patient population. It is also possible that small regions of 9q34 LOH were missed. Lastly, LOH was found in 56% of renal angiomyolipomas and cardiac rhabdomyormas but in only 4% of TSC brain lesions. This suggests that brain lesions can result from different pathogenic mechanisms than kidney and heart lesions.
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PMID:Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. 875 27

Tuberous sclerosis is an inherited syndrome with mental retardation, epilepsy, and acne rosacea being the classic triad of manifestations. The facial skin problems can present a cosmetic deformity or, as in the three patients presented here, can produce difficulties with hygiene and nasal breathing. Various approaches to treatment have been described over the last century, but no long-term results have been presented. Because of the full-thickness skin involvement, complete removal is not practical, and treatment should be directed toward acceptable long-term results with minimal surgical morbidity. Shaving and dermabrasion of the involved area produce very satisfactory results, but long-term follow-up of approximately 10 years reveals that there is a variable amount of recurrence and that subsequent treatment will be required.
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PMID:Treatment of the facial angiofibromas of tuberous sclerosis. 882 13

Using magnetic resonance imaging (MRI), we studied the myelination of the brains of 8 patients with West syndrome. All cases were symptomatic, 2 having severe asphyxia, 1 lissencephaly, 1 Leigh encephalopathy, 2 tuberous sclerosis, 1 multiple anomalies and 1 microcephaly. Myelination of the pons, cerebellum, thalamus, internal capsules, optic radiation, centrum semiovale and cerebral white matter was separately assessed. The 2 cases with tuberous sclerosis exhibited normal myelination patterns, although asymmetry of the cerebral white matter was noted. These cases had a moderate degree of mental retardation and persistent seizures. The other 6 cases exhibited a marked delay of myelination throughout the central nervous system except for the midbrain. These cases had severe psychomotor retardation and persistent seizures. Although the difference in the outcome may simply reflect the different etiological disorders, these results suggest that the myelination pattern is related to the psychomotor retardation but not to the severity of the seizures in West syndrome. Atrophy of the corpus callosum developed during ACTH therapy and disappeared after the therapy. It was thus suggested that the callosal atrophy caused by the ACTH therapy was reversible.
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PMID:An MRI study of the myelination pattern in West syndrome. 883 97

The tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disorder characterized by seizures, mental retardation, and hamartomas. Patients with TSC have been reported to develop renal cell carcinomas (RCC) with increased frequency, an observation that is supported by the Eker rat model. To address the role of the tuberous sclerosis tumor suppressor genes in the pathogenesis of RCC, we studied six TSC-associated RCCs. Our findings suggest that some TSC-associated RCCs have clinical, pathological, or genetic features distinguishing them from sporadic RCC. Clinically, the TSC-associated tumors occurred at a younger age (mean, 36 years) than sporadic tumors and occurred primarily in women. Four of the six patients died of metastatic disease. Pathologically, five tumors displayed clear cell morphology. Of those five, two had high-grade spindle cell areas and one had granular cell histology in addition to the clear cell areas. A sixth tumor was anaplastic throughout. Four of the six tumors immunostained positively for a melanocyte-associated marker, HMB-45. HMB-45 positivity has been seen in two other TSC lesions: renal angiomyolipomas and pulmonary lymphangiomyomatosis. Five tumors were analyzed for loss of heterozygosity. Two had loss of heterozygosity on chromosome 9q34 and one had loss of heterozygosity on chromosome 16p13. We conclude that TSC-associated RCCs occur at an earlier age than sporadic RCCs, that some TSC-associated renal carcinomas have a different immunophenotype than sporadic RCCs, and that the TSC tumor suppressor genes may play a specific pathogenic role in these tumors.
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PMID:Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. 886 69

Tuberous sclerosis is characterized by facial angiofibromatosis, epilepsy, and mental retardation. There have been only a few reports of anesthetic management of patients with tuberous sclerosis. We managed a 22-year-old patient with tuberous sclerosis using nitrous oxide (67%) in oxygen supplemented with fentanyl and midazolam. There were no untoward events related to anesthesia and surgery. Problems in managing patients with tuberous sclerosis are also discussed.
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PMID:[Anesthetic management of a patient with tuberous sclerosis]. 886 13

CNS lesions of tuberous sclerosis complex (TSC) are due to a developmental disorder of neurogenesis and neuronal migration. MRI studies provide excellent in vivo demonstration of the various pathologic lesions. Symptoms of cortical tubers may include seizures, mental retardation, learning disabilities, and abnormal behavior. Seizures have a focal or multifocal origin, this clinical feature depending on the localization of the cortical tubers. Epilepsy associated with TSC is often intractable, but seizure control has benefited from the introduction of the new antiepileptic drugs. Carefully selected drug-resistant patients can be assessed with intensive monitoring as candidates for surgical removal of epileptogenic lesions. The success of epilepsy surgery is predicated on the clear identification of epileptogenic foci.
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PMID:Neurological manifestations of tuberous sclerosis complex. 890 65

Polycystic kidney disease is a relatively uncommon finding of tuberous sclerosis. Furthermore, the renal insufficiency by the severe polycystic kidney disease is extremely rare in tuberous sclerosis. The patient was a 27-year-old man, complaining of generalized seizure and progressive abdominal distension. His clinical features were chracterized by epilepsy, mental retardation, skin abnormalities including adenoma sebaceum, shagreen patch and ash-leaf spots. Abdominal computed tomography demonstrated numerous variable sized cysts throughout both kidneys. Clinical and laboratory findings revealed chronic renal failure due to severe polycystic kidneys. On reviewing the literature, the present case is the first report of polycystic kidneys associated with tuberous sclerosis in Korea.
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PMID:Tuberous sclerosis and polycystic kidney disease. A case report. 900 3

The relationship between the number of cortical tubers observed by magnetic resonance imaging (MRI) and the severity of cerebral dysfunction of tuberous sclerosis patients has been examined in a meta-analysis of the published literature. The literature review has identified five independent studies for examining the association. These studies consistently reveal that the cortical tuber count detected on MRI scans is increased among those with more severe cerebral disease. Severity of the cerebral dysfunction is measured by the seizure status and its control and by the developmental status and the level of mental retardation. Meta-analysis demonstrates that within a study population, the MRI-detected cortical tuber count is six times more likely to be above the median count for tuberous sclerosis patients with severe cerebral dysfunction (poor seizure control or moderate-severe retardation or both) than more mildly affected tuberous sclerosis patients. Similarly, across studies, moderately to severely affected patients are five times more likely to have greater than seven MRI-detected cortical tubers than those more mildly affected. These associations are both statistically significant and strong. The cortical tuber count is a biomarker that reasonably predicts the severity of cerebral dysfunction of tuberous sclerosis. Cortical tubers of tuberous sclerosis form in the early gestational period. The embryologic disruption determining the clinical severity of the cortical dysfunction of tuberous sclerosis is set in the early gestational period.
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PMID:Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. 907 14

Tuberous sclerosis is often associated with developmental and behavioural disorders including typical or partial autistic syndrome. However, it may be difficult to recognize tuberous sclerosis behind an infantile autism during the early stages of the disease. Therefore, tuberous sclerosis must be regularly looked for on the basis of its major and minor criteria in any cases of infantile autism. The child psychiatrist is preferentially involved in the management of the various aspects of this association, ie, behavioural or character disorders, difficulties in social relationships and communication, mental retardation, feeding disorders, and psychological consequences for the families. The support provided may be complemented by that offered by the Association for Bourneville's tuberous sclerosis.
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PMID:[Bourneville's tuberous sclerosis and autism]. 909 30


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