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)

A case of tuberous sclerosis with congenital brain tumor was reported. The diagnosis was made on the basis of the pathological findings of subependymal giant cell astrocytoma, after surgery at the newborn period. After the neonatal period, the patient presented the classical triad of seizures, white spot of skin and mental retardation. The exact nature of tumor-forming giant cells remains controversial. We studied the nature of these cells using immunohistochemical method. GFAP, S-100 protein and NSE stains were all positive. This result suggested that the tumor cells had the features of both neurons and astrocytes.
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PMID:[A case of tuberous sclerosis with congenital brain tumor; an immunohistochemical study]. 159 Oct 26

We report on a 9-year-old boy who developed subependymal giant-cell astrocytoma associated with tuberous sclerosis. Apart from a few hypopigmented skin patches, the boy's clinical picture was completely unremarkable until the onset of diplopia and vertigo reflecting increased intracranial pressure. Magnetic resonance imaging of the brain revealed subcortical hamartomas in addition to the intraventricular tumour. Seizures and mental retardation were absent. The boy's mother had suffered from seizures during childhood and presented with typical skin lesions. The importance of thorough examination and regular follow-up even in patients with oligosymptomatic variants of tuberous sclerosis is emphasized.
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PMID:[Oligosymptomatic Bourneville-Pringle tuberous sclerosis of the brain with giant cell astrocytoma]. 175 57

Of 77 patients with supratentorial Grades I and II astrocytoma diagnosed from January 1975 to December 1984, 66 were treated with postoperative radiation therapy. The patients received a tumor dose of 5000 to 5500 cGy in 180 cGy fractions, five fractions per week, over 5.5 to 6 weeks. Overall actuarial survival at 2, 5, and 10 years was 71%, 55%, and 43%, respectively. Progression-free survival at 2, 5, and 10 years was 69%, 50%, and 39%, respectively. Survival for patients receiving postoperative radiation therapy in the range of 4500 to 5900 cGy was 78% and 66% at 2 and 5 years, respectively. Quality of life was determined at two points in time: 1 to 2 years postoperatively, and at last follow-up (2-12 years postoperatively). The occurrence of mental retardation was specifically addressed in long-term survivors, and was observed in 50% of children. Overall, however, 80% of short-term survivors and 67% of long-term survivors were intellectually and physically intact, without major neurologic deficit. Specific prognostic factors were assessed by multivariate analysis. Improved survival was observed with young patients, females, normal preoperative mental status, surgical resection (versus biopsy alone), involvement of only one lobe with tumor, and a history of preoperative seizures. A weighted prognostic factor score derived from these observations permits a clinically useful assessment of risk for individual patients.
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PMID:Low-grade cerebral astrocytomas. Survival and quality of life after radiation therapy. 235 9

It is well known that intraventricular tumors are occasionally seen in patients with tuberous sclerosis. We have experienced two cases of tuberous sclerosis with intraventricular tumor. Case 1: an 8-year-old girl was admitted to our clinic because of headache and vomiting of one month's duration. She had adenoma sebaceum, mental retardation and seizures clinically, and a large tumor was found in the right lateral ventricle by pneumoventriculography. Partial removal of the tumor was performed by the right frontal transcortical approach, but she later died of pneumonia. Necropsy revealed hamartomatous disease characterized by multiple focal tumor-like malformations in various organs including the brain, kidneys, heart, lungs and liver. The histological diagnosis of the intraventricular tumor was subependymal giant cell astrocytoma. Case 2: a 6-year-old boy was admitted to our clinic because of headache of one year's duration. He had also suffered from seizures since 6 months of age. Adenoma sebaceum was noted in the cheeks. CT revealed a medium sized tumor at the right foramen of Monro and the moderately dilated right lateral ventricle and several calcified deposits in the lateral ventricle wall. The tumor was subtotally removed by the right frontal transcortical approach. The pathological examination showed subependymal giant cell astrocytoma. Now 6 years after the operation he is enjoying a normal school life. In our cases, intraventricular tumors associated with tuberous sclerosis were of a typically benign histological appearance, that is subependymal giant cell astrocytoma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Tuberous sclerosis with intraventricular tumor: report of 2 cases]. 380 99

The Williams elfin facies syndrome (Williams-Beuren syndrome) is a disorder characterized by a typical facies, supravalvular aortic stenosis and mental retardation. Its coexistence with a brain tumor has, so far, never been described. Recently, we treated a patient who was previously diagnosed as having Williams syndrome for a cerebral astrocytoma. In view of the incidence of astrocytomas in children and the occurrence of Williams syndrome, we want to report this coincidence.
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PMID:Occurrence of an astrocytoma in a patient with Williams syndrome. 384 62

Among 341 childhood brain tumors treated at Northwestern University--Children's Memorial Hospital during the years 1967-1980, there were 39 children (11%) who presented during the first year of life. Half of the total number of childhood choroid plexus papillomas, meningeal sarcomas and teratomas we treated occurred in this particular age group. Supratentorial tumors were more common than infratentorial, a rate of 1.8:1. Medulloblastoma and benign astrocytoma were the most common histological types. Hydrocephalus was present in 82% of the children and papilledema in 28%, so that progressive enlargement of head circumference was the most common reason for referral. For the 37 patients who underwent surgical removal or biopsy of the tumor, the 1-month mortality rate was 19% and the 1-, 3- and 5-year survival rates were 46, 30 and 22%, respectively. Whenever tolerated, roentgen therapy was given. Most of the 24 deaths occurred within 6 months of the time of diagnosis. 5 patients (1 each with malignant astrocytoma, medulloblastoma, meningeal sarcoma, and 2 with choroid plexus papilloma) are still alive 5 years later, without neurological or mental deficit, and with no sign of recurrence. There were three exceptions to Collin's rule. Among the 15 survivors, 5 suffer mental retardation.
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PMID:Brain tumors during the first year of life. 660 38

One hundred two patients were evaluated for late effects of brain tumor in childhood by a medical record review and follow-up questionnaire. The patients had survived brain tumor for 5 to 47 years (median, 18 years). Among 30 patients who had received brain irradiation, 3 were successfully treated for second neoplasms that developed within the radiotherapy field 11, 16, and 29, years later, respectively. Moderate or severe functional deficits were present in 24 patients (24%), more commonly among those treated before 2 years of age and among those with cerebral astrocytoma. The other 78 patients (76%) had mild or no gross deficits, and all but 1 of them were attending school or were employed. Twenty-one patients in the series reported a total of 41 offspring, none of whom had cancer or mental retardation. Although markedly diverse performance levels were found among the 102 long-term survivors of childhood brain tumors, the majority had an acceptable quality of life.
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PMID:Follow-up of children with brain tumors. 672 38

We review 160 cases of gliomatosis cerebri from the literature and report an additional three infants and young children who presented with intractable epilepsy, corticospinal tract deficits, and developmental delay in whom a pathologic diagnosis was made. The progressive nature of the encephalopathy in our cases was documented by serial clinical examination, electroencephalograms, magnetic resonance imaging, and positron emission tomographic scans. The natural history of gliomatosis cerebri was determined by a retrospective review of the literature of 160 cases in 85 reports. The most common neurologic symptoms and signs included corticospinal tract deficits (58%), dementia/mental retardation (44%), headache (39%), seizures (38%), cranioneuropathies (37%), increased intracranial pressure (34%), and spinocerebellar deficits (33%). The most commonly involved central nervous system structures were the centrum semiovale and cerebrum (76%), mesencephalon (52%), pons (52%), thalamus (43%), basal ganglia (34%), and the cerebellum (29%). Fifty-two percent of patients were dead within 12 months of onset. Different grades of glial neoplasm may also coexist within gliomatosis cerebri such as astrocytoma with anaplastic astrocytoma, atypical or anaplastic oligodendroglioma, and glioblastoma multiforme. Hypotheses regarding the pathogenesis of gliomatosis cerebri include blastomatous dysgenesis, diffuse infiltration, multicentric origin, in situ proliferation, and "field transformation." The biologic determinants of whether a transformed glial cell behaves as a relatively localized tumor mass or truly loses anchorage dependence to become migratory as well as proliferative are not understood.
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PMID:Gliomatosis cerebri presenting as intractable epilepsy during early childhood. 753 65

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

We present clinical, biochemical and cranial magnetic resonance imaging data of six pediatric patients with L-2-hydroxyglutaric aciduria. All the children have the same ethic origin and lived in the northern area of Portugal. Our findings reinforce the described phenotype of this rare metabolic disease with mental deficiency, severe cerebellar dysfunction, mild extrapyramidal and pyramidal symptoms, progressive macrocephaly and seizures. Magnetic resonance imaging revealed subcortical leukoencephalopathy, cerebellar atrophy and signal changes in the putamina and dentate nuclei. These were similar to those of the previous reports in all patients. The urinary excretion of L-2-hydroxyglutaric acid was variably increased in all patients. The other persistent biochemical abnormality was hyperlysinemia. We have found a strong correlation between the severity of the clinical manifestations and the extension of the lesions in the neuroimaging studies. There was no correlation between the clinical findings and the amount of urinary excretion of L-2-hydroxyglutaric acid. We report the second case in the literature of a cerebral thalamic tumor in L-2-hydroxyglutaric aciduria; neuropathological examination of the surgical biopsy demonstrated a diffuse fibrillary astrocytoma.
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PMID:L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. 918 77


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