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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of neurofibromatosis with varied clinical symptoms due to parental consanguinity is reported. The patient presented the following manifestations: mental retardation, curved tibias, kyphoscoliosis, basillary impression with pyramidal syndrome and parkinsonism, subluxation of the lenses, bilateral blindness, and hypogonadism. Subluxation of the lenses and hypogonadism deserve special mention because of the rarity of their presentation in this disease. The hypogonadism was of the hypogonadotrophic type without evidence of pituitary or gonadal tumor. The possible causes of endocrine dysfunction in neurofibromatosis are discussed. The more likely hypothesis explains endocrine dysfunction on the basis of an elongation of the pituitary stem; if such abnormality was caused by gliosis of the optic chiasma, an explanation would be apparent for the bilateral blindness presented by our patient since infancy. The alterations of the nervous, endocrine, and osteoarticular systems, and the ocular manifestations that can be present in von Recklinghausen's disease are also reviewed.
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PMID:[Hypogonadism, basillary impression, subluxation of the lenses, and other clinical manifestations in a case of neurofibromatosis (author's transl)]. 678 93

Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous disorder with the distinguishing histopathological features of dysgenesis and neoplasia of the adipose tissue. The dominant clinical features of the syndrome include convulsions beginning in infancy, mental retardation, and unilateral cutaneous and ophthalmological lesions with ipsilateral cerebral malformations. A patient with this rare disorder of ectomesodermal dysgenesis has been studied in order to classify clinically and histologically the associated skin lesions. To our knowledge, this is the fourth case of encephalocraniocutaneous lipomatosis reported in the English literature.
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PMID:Encephalocraniocutaneous lipomatosis: a new neurocutaneous syndrome. 689 36

Analysis of 30 patients with skeletal asymmetry indicates that hemihypertrophy and hemihypotrophy are separate and distinct clinical syndromes. Hemihypotrophy is often associated with scoliosis, mental retardation, and chromosomal mosaicism and occasionally associated with the Silver syndrome. It is not associated with childhood neoplasia. Limb-length inequality is usually mild. Hemihypertrophy is more common than hemihypotrophy and is sometimes associated with primitive neoplasms of the liver, adrenals and kidneys, as well as with benign organ growth aberrations. It is not normally associated with fixed scoliosis nor with mental retardation. Limb-length discrepancy usually requires surgical management. Family counseling and periodic assessment for neoplasia are indicated during childhood.
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PMID:Hemihypertrophy and hemihypotrophy. 708 73

To our knowledge, 20 cases of retinoblastoma associated with a chromosome #13 aberration have been reported. The present study utilized high-resolution prophase banding analysis of 12 additional retinoblastoma patients to determine the occurrence of chromosome aberrations and identify consistently associated clinical abnormalities. Six male and six female patients were studied representing seven cases of bilateral and five cases of unilateral retinoblastoma. One case of unilateral and two cases of bilateral retinoblastoma and detectable cytogenetic abnormalities, all involving an interstitial deletion of 13q14 on the long arm of one chromosome #13. In all five unilateral cases the tumor manifested in the left orbit, and in all seven bilateral cases the left eye was at a more malignantly advanced stage than the right eye. All three cases with a chromosome abnormality had varying degrees of developmental and/or mental retardation, along with at least one other congenital abnormality. In addition to the 12 cases of retinoblastoma, a patient with severe ophthalmologic abnormalities and mild congenital anomalies was studied by the prophase banding technique and found to be partially trisomic for the 13q14 region with gene loci for optic development and indicate that cytogenetic abnormalities may occur even more frequently in retinoblastoma than indicated by the small number of cases reported in the literature.
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PMID:Retinoblastoma and its association with a deletion in chromosome #13: a survey using high-resolution chromosome techniques. 710 85

In an attempt to define prognostic indicators of intelligence and seizures in the hemiparetic cerebral palsy population, birth histories, electroencephalograms, and computerized tomographic (CT) scans were reviewed in 52 children with hemiparetic cerebral palsy. Cases were excluded when the hemiparesis might have been related to events beyond the neonatal period, such as meningitis, trauma, focal seizures, tumor, or vascular insults. Detailed neurological histories and examinations were done in all patients. Intellectual evaluations, electroencephalograms, and CT scans were obtained. There was no significant relationship of birth history to subsequent seizure development or mental retardation. In contrast, findings in electroencephalograms and CT scans correlated well with the development of seizures and abnormal intelligence. Children who shared anatomical abnormalities of commissural pathways, association pathways, or cerebral cortex were found to have a much higher incidence of seizures and abnormal intelligence.
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PMID:Prognostic indicators in hemiparetic cerebral palsy. 722

Over a 24 month period on six paediatric wards of different designs 169 cases of possible hospital-acquired respiratory virus infection were investigated. A variety of viruses was isolated from 82 cases, the most common being respiratory syncytial virus, influenza, parainfluenza, adenoviruses and rhinoviruses. A further 73 children developed respiratory symptoms between 3 and 300 days after administration but viruses were not demonstrable by the techniques used. These children were thought to have hospital-acquired infection nonetheless. Thirteen children were shown not to have acquired infection as the cause of their intercurrent illness. Most acquired infections occurred where toddlers were in cots in open wards. Children with trauma, including non-accidental injury, congenital malformations, mental retardation, failure to thrive or neoplasia were most likely to become infected. Almost 20% of children suffered from croup or lower respiratory tract illness as a result of their acquired infection. The figure was 41% if those less than 12 months old were considered alone. Most episodes settled quickly but in a few children investigations or surgery were delayed for a few days.
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PMID:A two year prospective study of hospital-acquired respiratory virus infection on paediatric wards. 724 Jul 35

57 children presenting with optic glioma, 30 of which with neurofibromatosis, were treated from 1956 to 1978 at the Institute Gustave-Roussy. In 3, the tumor was confined to a single optic nerve; 18 had a chiasm-infiltrating tumor and 36 a large tumor invading adjacent structures. At the time of diagnosis, all but 2 had visual deficit, 5 had endocrine dysfunction and 27 had symptoms of increased intracranial pressure. X-ray examinations showed an enlargement of the sella turcica in 28 out of 37 patients and enlarged optic canals in 39 out of 41 investigated cases. 25 patients were operated on (most often exploratory operation only) and all received a 50 to 60 grays irradiation. 42 patients are alive but 20 are blind and 26 present with important mental retardation.
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PMID:[Optic glioma in children. A retrospective study of 57 cases treated by irradiation (author's transl)]. 725 17

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

Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibomatosis, is a common heritable neurocutaneous disorder. This disorder appears to affect all races, with a prevalence estimated to be 1 in 3000. Approximately half of all cases of NF1 represent new mutations. The characteristics of NF1, which include cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma, osseous lesions, macrocephaly, short stature and mental retardation suggest that the genetic lesion affects the proper development of multiple organ systems. Within the past few years, the gene causing NF1 has been identified and the protein encoded by this gene, neurofibromin, has been the subject of detailed investigation. The NF1 gene spans over 350 kb of genomic DNA and encodes a protein product of 2818 amino acids. Neurofibromin is expressed in many different tissues. It is now known that one role of neurofibromin is as a GTPase activating protein (GAP), very likely in the same pathway of signal transduction as ras. Absence of neurofibromin in mice homozygously mutant for the NF1 gene results in profound developmental abnormalities. In mice that are heterozygous for NF1, an accelerated onset of tumor formation is observed. Combined with studies of tumors from NF1 patients showing homozygous deletions in the NF1 gene, these data suggest a role for NF1 as a "tumor suppressor". Evidence suggesting other roles played by neurofibromin, in control of proliferation in some situations and differentiation in others, is gradually bringing the previously hazy picture of this genetic disorder into sharper focus.
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PMID:Neurofibromatosis type 1: pathology, clinical features and molecular genetics. 767 Jun 56

Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate 11p13 Wilms' tumor gene, WT1, has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilm's tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome 11 allele encompassing the WT1 gene. Analysis of the remaining WT1 allele in a Wilms' tumor from a WAGR patient revealed the deletion of a single nucleotide in exon 7. This mutation likely played a key role in tumor formation, as it prevents translation of the DNA-binding zinc finger domain that is essential for the function of the WT1 polypeptide as a transcriptional regulator.
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PMID:Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome. 768 65


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