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)

Medulloblastoma and acute lymphocytic leukemia patients treated by intrathecal methotrexate and radiation were investigated by means of computerized axial tomography. More than 50% of them turned out to have acquired encephalopathy. Only gross morphologic brain defects, as visualized by computerized tomography, caused manifest clinical signs of brain dysfunction, such as epilepsy, mental retardation, paresis, and apallic syndrome. Mild morphologic changes were found even in asymptomatic children. The preferred site of defects in brain substance was the paraventricular white matter.
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PMID:Findings in computerized axial tomography after intrathecal methotrexate and radiation. 28 21

Results of radiation therapy for cerebellar medulloblastoma at Kyoto University Hospital were reviewed. Between 1962 and 1988, 30 patients with histologically-proven medulloblastoma completed radiotherapy. Before 1971, the treatment volume was either the posterior fossa only or posterior fossa plus spinal axis, but after 1972, it was extended to include the entire neuraxis. The mean dose was 48 Gy to the posterior fossa, 36 Gy to the whole brain, and 25 Gy to the spinal axis. The 5-year survival rate and 5-year relapse-free survival rate estimated by the Kaplan-Meier's method were 36% and 37%, respectively, for total cases, but were as high as 79% and 80%, respectively, for the recent 10 patients. This improvement in the treatment results appeared to be due to extensive tumor resection and improved radiotherapy technique, and not to the use of chemotherapy. The prognosis was significantly better in patients treated with craniospinal irradiation than in those otherwise treated. There was a trend towards better survival in patients who received 50 Gy or more to the posterior fossa or 24 Gy or more to the spinal axis, compared to the patients who received lower doses to each site. No significant morbidity of radiotherapy was seen. Four of the six surviving patients who were treated below age 12 have a mental retardation and/or a short stature, but one patient treated at age 5 has a normal growth and a good intelligence. From these analysis, it is recommended to irradiate craniospinal axis and posterior fossa up to 25-35 Gy and 50-55 Gy, respectively.
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PMID:[Results of radiation therapy for medulloblastoma]. 261 86

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

Four patients affected with the nevoid basal cell carcinoma syndrome and recurrent seizures are described and the pertinent literature is reviewed. Three of the patients had multiple basal cell carcinomas and cutaneous nevi, dentigerous cysts, and skeletal anomalies characteristic of the syndrome. The seizures had their onset in childhood and were generalized tonic-clonic in three patients and both tonic-clonic and complex partial in the fourth. Focal neurological deficits were found in only one patient. Pneumoencephalography in two patients and head CT scan in a third were negative. Electroencephalography showed focal spike discharges in one patient, bilateral anterior paroxysmal slowing in another, and nonspecific shifting temporal theta transients in the other two cases. Psychometric testing yielded full-scale scores ranging from 39 to 84. In addition to mental retardation, congenital communicating hydrocephalus, and medulloblastoma, seizures should be included among the neurological manifestations of the nevoid basal cell carcinoma syndrome.
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PMID:Nevoid basal cell carcinoma syndrome and epilepsy. 710 17

Thirty-one children under the age of 15 years with verified medulloblastoma were treated at Addenbrookes Hospital from 1940 to 1976. In addition to surgical treatment, all received high dose irradiation to the whole neuraxis. Nine were still alive in 1979, of whom eight were examined. All these patients showed some residual problems, but five were leading active lives and had only minor physical disability. There was evidence of disturbance in growth, with shortening of the spine in relation to the limbs, in all the children. The height centile was lower than expected from parental height in four and one was severely dwarfed. Growth hormone secretion in response to exercise was, however, normal in five of six patients tested. Three children also showed failure of growth of the jaw sufficiently severe to be a cosmetic problem. Frank mental retardation was present in three children. A raised resting TSH level was found in two children, one of whom had a multinodular goiter. Of the three children with severe problems, two had been treated when under two years of age. Long-term follow-up of children who survive medulloblastoma is clearly necessary and consideration should perhaps be given to revision of current treatment regimes in very young children.
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PMID:Medulloblastoma in childhood: long-term results of treatment. 723 89

Medulloblastoma is the most common primitive neuroectodermal tumor (PNET) of the central nervous system. Standard whole neuroaxis radiation prolongs survival, but causes mental retardation and growth disturbance. It is important to find appropriate prognostic indicators for medulloblastoma in children. We assessed the prognostic values of N-myc expression in medulloblastoma. Nineteen medulloblastoma or supratentorial PNET (SPNET) patients (15 males and 4 females) were immunohistochemically investigated for N-myc expression. Sixteen patients were N-myc-positive, and three were N-myc-negative. N-myc-positive patients had a tendency towards a poor outcome (P = 0.1125). N-myc-negative tumors were more differentiated towards glial lineage than N-myc-positive tumors. N-myc-negative and GFAP-positive patients (n = 2) tended to survive N-myc-positive and GFAP-negative patients (n = 13). In medulloblastoma and SPNET patients, N-myc expression may become an appropriate indicator of poor prognosis and primitive cell differentiation.
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PMID:An immunohistochemical analysis of medulloblastoma and PNET with emphasis on N-myc protein expression. 891 71

Wilms tumor (WT) is the most common primary renal tumor in childhood. The occurrence of WT in patients with growth retardation, mental retardation and central nervous system abnormalities in association with premature chromatid separation (PCS) and mosaic variegated aneuploidy has been previously described in only 10 patients. Here we report the very rare occurrence of WT with two other malignancies, acute myeloid leukemia and medulloblastoma in association with chromosomal instability. This is a novel presentation of Fanconi anemia with this cytogenetic abnormality.
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PMID:Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. 1985

This report describes 2 additional cases of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, a recently recognized disorder of infants and young children with macrocrania, developmental delay/mental retardation, and often epilepsy. Medulloblastoma, a previously unreported feature in megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, developed in one child at 3 years of age. Although the disorder is presumed to be genetic, the cause of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome has not yet been determined.
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PMID:MPPH syndrome: two new cases. 2148 46

Medulloblastoma is the most common malignant pediatric brain tumor. Survival rates range between 50% and 80% depending on histology and other biologic features, metastases, and treatment approach. Prader-Willi syndrome (PWS) is a genetically inherited disorder characterized by dysmorphic features, mental retardation, obesity, and hypogonadism among other features. We describe a 10.5-year-old girl with PWS and previous standard-risk medulloblastoma that relapsed in the pons 3 years after the end of treatment. Diagnosis of relapse was delayed by a preceding varicella infection, an initial clinical/radiologic response to steroids and the unusual location, and was confirmed with a stereotactic biopsy. Second-line therapy was commenced, however, the patient rapidly deteriorated and died. This is the first report of medulloblastoma in a patient with PWS.
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PMID:Challenges in the Diagnosis of Medulloblastoma Recurrence at an Unusual Site in a Patient With Prader-Willi Syndrome. 3130 37