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)

We report an autopsy case of bathtub drowning in epilepsy. A 26-year-old female with mental retardation had been treated for refractory epilepsy. Her younger sister found her floating supine in the bathtub 45 min after starting bathing. Neuropathological examination revealed cerebral cortical dysplasia in the precentral gyrus of the left hemisphere, which had not been detected by MRI, suggesting the etiology of epilepsy. In bathtub submersion injury of an unidentified cause, neuropathological examination should be performed to reveal any lesion underlying epileptic seizures. Additionally, we present statistics on bathtub submersion injury in children aged 5 years or older in Japan based upon nationwide survey data obtained in 1991. Forty-seven percent of them had associated epilepsy or convulsive attacks and 71% died. It is necessary for epileptic patients and their families to understand that the risk of bathtub drowning can be minimized if proper precautions are taken.
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PMID:An autopsy case of bathtub drowning in epilepsy. 940

We report a case of Dyggve-Melchior-Clausen syndrome, a skeletal dysplasia with short trunk dwarfism and mental retardation. A Chiari pelvic osteotomy was performed to halt hip subluxation on both sides. The patient was evaluated after 9 years and 10 months. The progressive lateral migration of the femoral head seemed to have been unaffected by this type of osteotomy.
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PMID:Treatment of hip subluxation in Dyggve-Melchior-Clausen syndrome. 948 54

Fragile 'X' syndrome also known as the Martin-Bell syndrome or the marker 'X' syndrome is an 'X'-linked disorder with connective tissue dysplasia and varying degree of mental retardation. A case of this syndrome with characteristic Martin-Bell phenotype is presented. Oral features as yet unmentioned are added.
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PMID:Fragile 'X' syndrome. A case study. 949 1

Congenital bilateral perisylvian syndrome (CBPS) is a recently described, neuronal migration disorder, characterized by pseudobulbar palsy, epilepsy and mental retardation and bilateral perisylvian dysplasia. A 15-year-old boy was diagnosed with CBPS according to the typical clinical, and magnetic resonance imaging (MRI) features. The patient was suffering from atypical absence seizures, repeating daily in spite of antiepileptic drug therapy, since age 7 years. He had also experienced rare generalized tonic-clonic seizures and complex partial seizures. Neurological examination showed severe restriction of tongue movements, severe dysarthria, dysphagia, facial diplegia, mild pyramidal signs and moderate mental retardation. A computed tomographic (CT) scan demonstrated bilateral perisylvian enlargement. The diagnosis was corrected with MRI after six years. Frequent irregular generalized spike and wave abnormalities and focal sharp and slow waves over the posterior regions of both hemispheres were shown by electroencephalograms (EEG). The patient was treated with Na-Valproate, carbamazepine and lamotrigine but did now show any significant change in seizure frequency in the eight-year follow-up period. Intractable seizures, mental retardation and particularly congenital pseudobulbar palsy suggest this congenital entity. Those patients who exhibit these typically clinical features, must have MRI.
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PMID:A clinically recognizable neuronal migration disorder: congenital bilateral perisylvian syndrome. Case report with long-term clinical and EEG follow-up. 953 Sep 47

We report on four Japanese sibs (three brothers and one sister) with a previously unreported syndrome of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and mental retardation. Most clinical manifestations were evident neonatally, but skeletal changes and cataracts became substantial in early childhood. Radiological anomalies comprised coronal synostosis, mild epiphyseal dysplasia, particularly in the distal tibiae, strikingly delayed patellar ossification, mild metaphyseal splaying, hypoplastic ilia with iliac flare, and platyspondyly with ovoid-shaped or posteriorly humped vertebral bodies. The nonconsanguineous parents were mildly mentally retarded, and sibs of both gender were equally affected; thus, inheritance was likely autosomal recessive.
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PMID:Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs. 955 84

The somatosensory evoked potentials in two children with a unilateral migration disorder (pachygyria) of the cerebrum, which was detected by MRI, were examined in order to evaluate the function of the malformed sensory cortex. A 5-year-old girl had slight left hemiparesis, seizures, and mental retardation, and a 4-month-old boy had left hemiparesis. Neither patient showed distinct sensory disturbance. Short latency somatosensory evoked potentials and somatosensory evoked potentials recordings demonstrated that the early cortical component, N20, was absent and a positive wave appeared on paretic left-hand stimulation. On nonparetic right-hand stimulation, the primary evoked response (N20-P30) of the left hemisphere, which originates in Broadmann area 3b, was almost normal. Multichannel recordings on the scalp of one patient revealed that a positive wave without polarity inversion appeared posterior to the right central sulcus on median nerve stimulation on the paretic side. The radial dipole in the sensory cortex (area 1 or area 3a) or motor cortex (area 4) could have formed the positive/negative biphasic wave in the relatively wide centroparietal area in the present patients. In the case of unilateral cortical dysplasia, the malformed cortex with subnormal function of sensation might induce the change in the early component of somatosensory evoked potentials.
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PMID:Somatosensory evoked potentials with a unilateral migration disorder of the cerebrum. 962 11

Mentally retarded patients can be grouped in two categories: severe forms seen in 4 of every thousand live births and mild forms that occur approximately five times more often. Approximately half of severe cases of mental retardation are genetically determined, and half of these fall under the category of X-linked mental retardation (XLMR) disease. The XLMR group is currently comprised of 105 highly varied types of retardation that can be associated with a fragile X chromosome, biochemical defect, neurologic alterations, bony dysplasia and a range of malformations. Along with such syndromes (which are specific), some 40 familial XLMR entities (nonspecific) can be identified in which mental retardation is the only sign. Cytogenetic testing to identify dysmorphic syndromes caused by chromosomal disease and molecular biology studies are indispensable for identifying the genes responsible for XLMR syndromes. Healthy carriers can also be found. It thus becomes possible to provide appropriate genetic counseling for families and to achieve a prenatal diagnosis in some cases.
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PMID:[Genetics of mental retardation]. 964 28

Recently sleep related breathing disorders in children have received considerable attention. Unfortunately, cardiorespiratory polygraphy is expensive and time-consuming, and up until now today only a few pediatric hospitals have complete facilities for all-night cardiorespiratory polygraphy. Nevertheless, the prevalence of sleep related breathing disorders in children is higher than has previously been thought. To show the importance of proper diagnosis of sleep related breathing disorders, we report a case of a 4-year-old girl with severe obstructive sleep apnea caused by Goldenhar-sequence (facio-auriculo-vertebral dysplasia). Despite some treatment efforts to correct the aplastic right mandible, the symptoms of obstructive sleep apnea were not immediately recognized and remained untreated. Untreated obstructive sleep apnea led to growth and mental retardation. After polygraphic confirmation of obstructive sleep apnea and appropriate interdisciplinary treatment, the 4-year-old girl made rapid advances in growth and mental development.
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PMID:Four-year-old girl with Goldenhar-sequence and severe obstructive sleep apnea, symptoms, diagnosis and therapy. 966 50

We present a child with Lenz dysplasia associated with panhypopituitarism. Lenz dysplasia is characterized by small eyeball, small head, hydronephrosis, cleft lip and palate, and mental retardation. A 12 month-old boy with Lenz dysplasia was scheduled for plasty of the lip and basis of the nasal cavity under general anesthesia. We had to pay attention for airway management and hormone supplementation. Anesthesia was induced with sevoflurane and nitrous oxide in oxygen. Tracheal intubation was facilitated with vecuronium bromide. We had no difficulty in airway management. Since this patient could not release enough endogenous cortisol in response to the stress of surgery, we supplemented hydrocortisone after anesthesia induction. Urine output and serum electrolyte concentrations were carefully monitored during surgery because of the impaired ADH response. We encountered no complications in the anesthetic management of this patient.
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PMID:[Anesthetic management of a child with Lenz dysplasia associated with panhypopituitarism]. 978 90

Malformations of cortical development are increasingly recognized in association with severe epileptic syndromes, neuropsychological disorders and mental retardation. Several clinical and experimental studies suggest that functional consequences of cortical dysplasias are not restricted to the area of the dysplastic lesion but also involve remote brain regions. In the present study cortical malformations were induced in newborn rats at day of birth by intracerebral injection of the glutamatergic agonist ibotenate. The resulting cytoarchitectonic lesion associates neuronal depopulation of deep cortical layers, ectopic neurons in superficial layers and sulcus formation, mimicking human polymicrogyria and migration disorders. Electrophysiological recordings of evoked field potentials in slice preparations of adult animals reveal hyperexcitability in widespread cortical regions surrounding the dysplasia. Low-intensity stimulation induced epileptiform activity consisting of long-lasting, multiphasic and N-methyl-D-aspartate-dependent field responses. They appeared with high variability as all-or-none events. These widespread changes in excitability were not observed in sham-operated animals with small superficial ectopias but intact deep cortical layers, indicating that focal loss of these layers induces extended alterations in cortical connectivity and imbalance of excitation and inhibition. Restricted zones of increased excitability were also found in the forelimb and hindlimb representation cortex in sham-operated and control animals, demonstrating that this activity has to be considered as an intrinsic property of specific cortical areas. Deoxyglucose autoradiography showed that the widespread hyperexcitability in ibotenate-injected animals was not accompanied by alterations in glucose metabolism, although in the area of structural abnormality a typical metabolic pattern was found, revealing an increased glucose uptake in layer I. Hypometabolism as described for many types of human dysplastic lesions was not observed. This difference between the experimental and clinical data may be due to the absence of behavioral seizures in this model. However, it can be hypothesized that in patients with developmental malformations, additional pathogenic factors contribute to the manifestation of seizure disorders.
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PMID:Excitability changes and glucose metabolism in experimentally induced focal cortical dysplasias. 982 83


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