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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

The carotid bodies from 71 patients ranging in age from 28 weeks' gestation to 30 years were obtained at autopsy. Patients were divided into two groups based on the presence or absence of chronic hypoxemia. There was a high correlation between the weight of individual carotid bodies in each case. Among the 12 patients with chronic hypoxemia, eight patients had carotid bodies heavier than predicted by statistical analysis. Of these eight patients, six had cystic fibrosis and two had cyanotic heart disease. Morphometric and cell population analyses of the carotid bodies from these eight patients and from those of the control population indicated that enlargement of the carotid bodies during normal or abnormal growth results from proportionate increases in lobule parenchyma and stroma. There was also an increase in the width and length of the lobules without an increase in the diameter of the cell cords or a change in the size or proportion of the chief cells. Growth and development of the carotid bodies were studied in a control group of 59 patients without chronic hypoxemia. There were no sex related differences in carotid body weights. The combined weight of the carotid bodies correlated most strongly with body weight, although there was some correlation with age and body length. A regression equation reflecting the data relating to body weight (BW) is: Combined weight of carotid bodies (in mg.) = 0.29 BW (in kg.) +3.0. Leukemic infiltrates were present in two patients with acute lymphocytic leukemia, and diffuse lymphocytic infiltration with nodule formation was present in one patient with mental retardation. Metaplastic cartilage was present in a carotid body of one patient.
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PMID:Carotid body hypertrophy in patients with cystic fibrosis and cyanotic congenital heart disease. 84 53

Using repeated computed tomographic and magnetic resonance imaging scans, we examined 8 patients with acute lymphocytic leukemia during remission induction therapy between 1988 and 1989. In 3 patients, leukoencephalopathy was diagnosed by T2-weighted magnetic resonance imaging. In 1 patient, leukoencephalopathy was progressive and irreversible brain damage and mental retardation persisted. In the other 2 patients, hyperintense lesions in the periventricular white matter were transient and no neurologic sequelae ensued. Magnetic resonance imaging was more useful than computed tomography in the early diagnosis and management of these acute lymphocytic leukemia patients with leukoencephalopathy.
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PMID:Early diagnosis of leukoencephalopathy of acute lymphocytic leukemia by MRI. 179 8

In a group of 71 children with acute lymphoblastic leukemia in long-term remission lasting 4 to 15 years different disorders in their neuropsychological development were found. The disturbances observed were as follows: Emotional disorders in 88%, personality development disorders in 65%, mental retardation in 58%, signs of CNS dysfunction in 54%, and neurological disorder in 31% of children. Abnormal computed tomography brain scans were present in 49% of patients. They consisted mainly of two types: Hypodense areas of the white matter were observed in 23% and widening of the ventricular system and subarachnoidal spaces was present in 26% of children. Statistical evaluation showed significant relations between CT brain scan abnormalities (mainly hypodense changes) and neurological disorders as well as the presence of signs of CNS dysfunction and disorders of personality development. Emotional and mental changes did not correlate with abnormalities of CT brain scan findings.
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PMID:Disorders in neuropsychological development and their relation to computed tomography brain scan in children with acute lymphoblastic leukemia in long-term remission. 185 54

Fragile X [Fra(X)] syndrome is an example of a heritable fragility syndrome associated with mental retardation. It is characterized by a fragile site on the X chromosome at Xq27-28. There have recently been three reports of malignant solid tumors associated with Fra(X) syndrome. We describe the first case of a hematologic malignancy [T-cell acute lymphocytic leukemia (ALL)] in a patient with Fra(X) syndrome. The possibility of a predisposition to malignancy in Fra(X) is discussed.
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PMID:Fragile X syndrome and acute lymphoblastic leukemia. 317 54

Since the beginning of cytogenetics, there has been a constant improvement of chromosomal culture and banding techniques. In 1976, Yunis described a high chromosomal resolution technique (HRC), that permits the detection of subtle chromosomal abnormalities. The present work, reports the results obtained when HRC was applied to the study of chromosomal abnormalities in patients with high risk of such. The study comprised 434 specimens of venous blood and 182 bone marrow aspirates. The samples were classified according to the presuntive diagnoses. The highest frequency of chromosomal abnormalities, was found in blood samples from patients with physical deformities with or without mental retardation (22.22%), followed by mental retardation autism and/or fragile X chromosome (13.66%), and in couples with reproductive disorders (5.8%). In bone marrow, the most frequent abnormalities corresponded to patients with chronic myeloid leukemia (78.43%), acute lymphocytic leukemia (62.10%), acute myeloide leukemia (61.9%), myelodisplastic syndromes (43.7%) and chronic lymphocytic leukemia (14.2%). The present results stress the need to apply the HRC technique when the probability of minute chromosomal abnormalities is high.
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PMID:[Application of the high resolution chromosomic technic in patients in high risk of cytogenetic anomalies]. 773 21

The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear defects. We report on the sixth child with this syndrome and the first of these to develop acute lymphoblastic leukemia at age 4 1/2 years. Her major problems included a migratory ichthyosiform dermatosis, multiple skin infections and infestations, bilateral retinal coloboma, developmental delay, seizures, infantile macrosomia, facial anomalies, a duplicated renal collecting system, and conductive hearing loss. Histologic examination of the skin demonstrated findings of an epidermal nevus with deep rete pegs, hyperkeratosis, and a markedly increased granular layer. The cause of the CHIME syndrome is unknown, but the disorder is easily recognized because of the striking phenotype. The diagnosis is important to make because of the potential for associated congenital heart disease, neurologic compromise, possible autosomal recessive inheritance, and possible association with malignancy.
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PMID:Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome. 929 69

Alstrom syndrome is a rare autosomal recessive disease; less than 60 cases have been reported. No Chinese patient with this disease has been reported previously in the literature. Here, we describe an 11-year-old Chinese boy with this condition. His elder sister also had Alstrom syndrome, and his father had non-insulin-dependent diabetes mellitus. Both siblings had degenerative retinopathy, obesity, mental retardation, perceptive hearing loss, short stature, non-insulin-dependent diabetes mellitus, nephropathy, hyperlipidemia, acanthosis nigricans, and hepatic dysfunction. The boy also developed acute lymphoblastic leukemia, which was confirmed by cytochemistry and immunophenotyping findings. He received chemotherapy and radiotherapy for the malignancy. The present case suggests that acute lymphoblastic leukemia may be coincident with or may be a previously undescribed systemic manifestation of Alstrom syndrome.
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PMID:Acute lymphoblastic leukemia in one of two siblings with Alstrom syndrome. 1106 Oct 78

Members of the AF4/FMR2 family of nuclear proteins are involved in human diseases such as acute lymphoblastic leukemia and mental retardation. Here we report the identification and characterization of the Drosophila lilliputian (lilli) gene, which encodes a nuclear protein related to mammalian AF4 and FMR2. Mutations in lilli suppress excessive neuronal differentiation in response to a constitutively active form of Raf in the eye. In the wild type, Lilli has a partially redundant function in the Ras/MAPK pathway in differentiation but it is essential for normal growth. Loss of Lilli function causes an autonomous reduction in cell size and partially suppresses the increased growth associated with loss of PTEN function. These results suggest that Lilli acts in parallel with the Ras/MAPK and the PI3K/PKB pathways in the control of cell identity and cellular growth.
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PMID:Lilliputian: an AF4/FMR2-related protein that controls cell identity and cell growth. 1117 3

Fourteen cases of mosaic variegated aneuploidy (MVA) syndrome have been reported in the last 10 years. The phenotype of this rare condition has been quite consistent: severe microcephaly, growth deficiency, mild physical anomalies, and mental retardation. We describe here a young boy in whom MVA syndrome is associated to myelodysplasia with a monosomy 7 bone marrow clone. At the age of 3 years, myelodysplasia progressed to an acute lymphoblastic leukemia, and the patient died soon after. Several syndromes with short stature and severe microcephaly, such as the Seckel and Nijmegen syndromes, comprise hematological findings and chromosome instability. However, chromosome instability was not confirmed in our patient. MVA with hematological findings has not been reported before, but 3 patients of 14 (21%) have developed a malignancy (rhabdomyosarcoma, acute lymphoblastic leukemia, and nephroblastoma). Therefore, we propose that MVA is a condition predisposing to neoplasia.
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PMID:High risk of malignancy in mosaic variegated aneuploidy syndrome. 1256 25


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