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

This paper describes EEG and clinical findings resulting from a follow-up investigation in a group of 18 males with fragile X syndrome, in whom a characteristic paroxysmal EEG pattern was previously described. The following types of evolution were observed: (1) disappearance of the pattern (with a gradual lowering of the amplitude of spikes and in some cases with asynchrony between the two hemispheres); (2) disappearance of the quasi-rhythmic centrotemporal spikes and persistence of bisynchronous polyspike and wave complexes in the temporo-parieto-frontal regions; and (3) persistence of the previously observed pattern. These results confirm the already observed similarity between this condition and the benign childhood epilepsy with centrotemporal spikes, also from the maturational point of view; on the other hand, they also indicate some difference (i.e., mental retardation, slow background EEG activity, brain atrophy). Moreover, these findings are encouraging for the possible development of research in the field of molecular genetics in epilepsy, because they provide a precise site of investigation on the X chromosome.
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PMID:Epilepsy and fragile X syndrome: a follow-up study. 201 98

Clinical and necropsy findings in 11 patients with sickle cell anemia (SS) indicate that intracranial hemorrhage (IH) is a delayed sequela of the same vasculopathy that causes cerebral infarction during childhood. Evidence of prior cerebral infarction during childhood included hemiparesis, seizures, an episode of coma, or mental retardation. Computerized tomography (CT) scans showed cerebral infarcts with lucent areas and dilated ventricles or cerebral atrophy. CT or magnetic resonance imaging (MRI) scans after the intracranial hemorrhage demonstrated intraventricular or intracerebral hemorrhages. Angiography or autopsy in seven patients showed widespread vascular occlusion and narrowing of arterial vessels. Moyamoya with internal carotid artery occlusion was identified in two cases. At the time of the IH, three patients were being treated with prophylactic transfusion regimens. We hypothesize that the central nervous system vasculopathy progresses over time and that arterial narrowing in both large and small vessels secondary to endothelial hyperplasia is followed by neovascularization and hemorrhage. Recognition of this pattern of delayed intracranial hemorrhage following cerebral infarction should encourage more intensive evaluation aimed at developing rational interventional therapy prior to a terminal intracranial hemorrhage.
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PMID:Delayed intracranial hemorrhage following cerebral infarction in sickle cell anemia. 213 21

As pediatric cardiac surgical techniques have improved in recent years, mortality rates have dropped and attention has turned to residual morbidity, especially neurologic sequelae. Although the majority of children undergoing open-heart surgery for correction of congenital heart defects apparently emerge with no adverse consequences, a small percentage suffer permanent neurologic injury (seizures, motor disorders). Another small and not well-defined population may be left with disorders of higher cortical function, such as mental retardation or learning disabilities. A survey of six major pediatric cardiac surgery units in North America was undertaken in 1988-1989 to ascertain current approaches to the detection and management of neurologic sequelae of pediatric open-heart surgery. All units reported seeing a small but definite incidence of postoperative neurologic symptoms, including alterations of consciousness, seizures, and localized abnormalities such as hemiparesis or delayed choreoathetoid syndromes. Postoperative neuroimaging procedures have shown a disturbing incidence of hypoxic-ischemic encephalopathy, unsuspected cerebral atrophy, and subdural hematomas. Pathogenesis may include factors related to preoperative brain anomalies and/or hypoxic insults, altered cerebral blood flow and metabolism during hypothermic cardiopulmonary bypass with or without total circulatory arrest, embolization, and low cardiac output states postoperatively. Further studies are needed to examine the mechanisms of injury and to develop techniques to minimize the occurrence of these sequelae, as they may be associated with life-long neurologic disability and reduced quality of life.
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PMID:Neurologic sequelae of open-heart surgery in children. An 'irritating question'. 230 48

A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical features are similar to those of the oculocerebral hypopigmentation syndrome described by Preus et al.
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PMID:An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. 310 90

We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fundus of the eye and subcortical cerebral atrophy. These physical defects do not correspond to any previously described syndrome, which suggests that it is a new syndrome. According to the model of heredity this syndrome could be due to a mutant gene situated in the X-chromosome.
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PMID:X-linked dysmorphic syndrome with mental retardation. 312 Dec 20

Of 99 children in the Royal Blind School, Edinburgh (which serves Scotland and part of N E England), 15 had optic atrophy (hydrocephalus 4, intracranial haemorrhage 2, prematurity 2, fetal distress 2, birth asphyxia 2, cerebral atrophy 1, cardiac arrest during hernia operation 1, and leukaemia 1). Fourteen had congenital cataract, 12 congenital retinal aplasia (Leber's congenital amaurosis) and 11 retinopathy of prematurity. There were small numbers in many other diagnostic categories, including three with non-accidental head injury. Mental retardation, spasticity, and nystagmus were frequent other correlates in all diagnostic categories. 'Very probably hereditary' was a conservative attribution in 36, while 'probable' seemed appropriate for 12-that is, almost 48% were hereditary. Only about 11 cases might have been prevented through genetic counselling, which testifies to the frequency of autosomal recessive hereditary disease, although no parents were consanguineous.
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PMID:Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity. 365 73

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.
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PMID:Neurological manifestations in xeroderma pigmentosum. 374 Aug 15

Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. In one patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. We believe this constellation of findings to be a new genetic syndrome and have termed it the oculo-palato-cerebral dwarfism syndrome.
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PMID:Oculo-palato-cerebral dwarfism: a new syndrome. 399 92

The study population consisted of 1010 in patients and 81 control subjects. Patients suffering from schizophrenia, cerebral atrophy of unknown origin, dementia, depression, mental retardation, and ethanol-induced brain deterioration (alcoholics) were skin tested with 25 micrograms of S-100 protein and neuron-specific enolase isolated from fresh human brain. Evaluation of delayed skin hypersensitivity reactions at 24 hr revealed a high incidence of positive responses to S-100 protein: heavy alcoholism, 96.8%; depression, 94.1%; cerebral atrophy, 92.6%; dementia, 91.2%; schizophrenia, 87.7%; and mental retardation, 69.4%. The incidence of positive reactions to neuron-specific enolase in schizophrenics was 91.6%. Of 58 control subjects tested with S-100 protein, 6.8% were positive, whereas of 23 normal individuals tested with neuron-specific enolase, 6.4% developed mild skin reactions. These data suggest a close relationship between delayed hypersensitivity to neural tissue antigens and immunopsychiatric diseases, and they imply that cell-mediated immune mechanisms are involved in the pathogenesis of certain mental disorders.
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PMID:Neural tissue hypersensitivity in psychiatric disorders with immunologic features. 400 35

Four infants with the 'shaken infant syndrome' are described. None had skull fractures and only one had a subdural hematoma. All had extensive retinal and pre-retinal hemorrhages. Follow-up computerized tomography showed severe brain atrophy, multiple hypodense areas and ventricular enlargement. Three of the patients suffered severe, permanent brain damage, with mental retardation, spasticity and blindness. It is suggested that the underlying pathogenesis of this syndrome is acutely increased intrathoracic pressure, transmitted into the head to cause multiple venous infarctions. Retinal and pre-retinal hemorrhages are cardinal features of this syndrome and their presence should raise the suspicion of this form of battering in the absence of the 'classical' signs of battering.
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PMID:Neurological manifestations in abused children who have been shaken. 401 25


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