Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tuberous sclerosis (Bourneville-Osseous Manifestations of Bourneville-Pringle's Disease) is a rare disease characterised by the clinical traid of epilepsy, mental retardation and adenoma sebaceum. In addition of this triad a number of patients shows other visceral, neurocutaneus or osseous manifestations. We describe the radiological findings of two patients with typical skeletal changes.
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PMID:[Osseous manifestations of Bourneville-Pringle disease]. 788 31

Tuberous sclerosis is a rare congenital disorder characterized by cutaneous angiofibromas, mental retardation, seizure disorders, and a variety of other, less common systemic anomalies. The present report details the features and periodontal management of a patient with gingival fibromata secondary to tuberous sclerosis.
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PMID:Gingival and other oral manifestations in tuberous sclerosis: a case report. 791 64

The coincidence of renal cell carcinoma and renal angiomyolipoma in tuberous sclerosis is extremely rare, although the coexistence of tuberous sclerosis and renal angiomyolipoma is well recognized. A case of bilateral renal angiomyolipomas and left renal cell carcinoma in a patient with tuberous sclerosis is reported. A 40-year-old male was referred to our hospital for further evaluation and treatment of left flank masses. Tuberous sclerosis was diagnosed on the basis of adenoma sebaceum, seizures, mental retardation and periventricular calcification. Contrast enhanced CT scan demonstrated irregularly enhanced masses in the upper pole and the middle portion of the left kidney, and multiple small low density nodules in the bilateral kidneys. Selective left renal angiography showed hypervascular areas in the upper pole and the middle portion of the left kidney. From the findings obtained, a clinical diagnosis of left renal cell carcinoma associated with bilateral renal angiomyolipomas was made. Left radical nephrectomy was performed. The histopathological examination revealed renal cell carcinoma and multiple renal angiomyolipoma nodules. The diagnostic considerations, particularly differential diagnosis between renal angiomyolipoma and renal cell carcinoma by imaging features, are discussed.
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PMID:[Coincident renal cell carcinoma and renal angiomyolipoma in tuberous sclerosis: a case report]. 794 68

Tuberous sclerosis is a neurocutaneous disease characterized of mental retardation, facial fibroangiomas, hypochromic stain and seizures. Is presented a case of a newborn that in the third day of life presenting seizures and in the physical exam show hypochromic CT scans irregular of 3-10 mm in thorax and limbs. The seizures presented during hospitalization were tonics, it was need treatment with three anticonvulsants for the control; the parents studies were normal. Magnetic resonance showed characteristic images of this pathology like nodular subependymal lesions, hyperintense, in lateral ventricles and a cortical tuberous lesion in the right frontal region. Tuberous sclerosis has a dominant autosomic transmission; the defect is in the chromosome 9, the prenatal diagnosis is not possible and 50-80% the of case are mutations. Affect a different organs as skin, eyes, heart, brain, kidney, bone and lung. The prognostic is variable and death is caused for epileptic state, brain tumor, heart failure, renal or intercurrent infection. The magnetic resonance imaging is the landmark study for diagnosis of this pathology of ample use in the present.
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PMID:[The magnetic resonance imaging of the cerebral lesions in a newborn infant with tuberous sclerosis]. 811 Apr 8

We report on a 21-year-old, male patient with unilateral retinal phakomata associated with histologically proved cerebral astrocytoma. The patient had presented with bilateral loss of vision and a left-sided hemiparesis. Ophthalmoscopy showed bilateral optic nerve atrophy, multiple punched-out areas of depigmentation and astrocytic hamartomata in the right eye. Despite the absence of classic signs of Bourneville-Pringle disease such as adenoma sebaceum, epilepsy and mental retardation, a strongly presumptive diagnosis of tuberous sclerosis could be made. This unusual case demonstrates that retinal phakomata can be the solely visible manifestation of Bourneville-Pringle disease.
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PMID:Retinal phakomata associated with cerebral astrocytoma. An incomplete form of Bourneville-Pringle disease? 827 67

The characteristics triad of tuberous sclerosis-adenoma sebaceum, mental deficiency and epilepsy-associated with distal-type renal tubular acidosis was combined with anticonvulsant osteomalacia in a 41-year-old woman. In addition to the specific bone lesions of tuberous sclerosis, the bone disease was caused by an adverse effect of a drug and possibly also by the renal disorder leading to significant musculoskeletal disability. In response to calcium carbonicum and 1-25-dihydroxyvitamin D therapy the musculoskeletal disability healed and the abnormal biochemical markers of anticonvulsant osteomalacia disappeared. The present observation draws attention to the increased hazard threatening patients on chronic anticonvulsant therapy simultaneously suffering from renal diseases.
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PMID:Metabolic bone disease (anticonvulsant osteomalacia) and renal tubular acidosis in tuberous sclerosis. 828 38

An estimate of the prevalence of autism in tuberous sclerosis (TSC) was made by interviewing the parents of 21 children between ages 3 and 11 ascertained during a previous population study of the condition in the West of Scotland. Five of the children (24%) were rated autistic and a further four (19%), all of whom were girls, had socially impaired behavior categorized as pervasive developmental disorder, without fulfilling all the DSM-III-R criteria for autism. One further boy had disruptive attention-seeking behavior that had excluded him from his normal school. The estimated prevalence from this study of autism in TSC is 1 in 4 children in general, and 1 in 2 of those with mental retardation. Tuberous sclerosis could be a significant cause of autism and pervasive developmental disorders, particularly in girls.
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PMID:A prevalence study of autism in tuberous sclerosis. 833 Oct 50

This rare disease of dominant inheritance is described with the symptom triad of epilepsy, mental deficiency (oligophrenia) and adenoma sebaceum. The skin manifestation may be manifest in the first year, but the parents seek the help of the physician only when the dramatic symptom of convulsion occurs.
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PMID:Epileptic fit: the most dramatic sign of tuberous sclerosis. 836 58

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


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