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

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

The Sturge-Weber syndrome is a congenital anomaly that is characterized principally by unilateral angiomatosis of the skin, cerebral meninges and choroid of the eye. It may be attended by mental retardation, convulsions, hemiplegia, and visual disturbances. The complete syndrome is rare. We herewith report a case of the syndrome fairly fully developed.
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PMID:The Sturge-Weber syndrome. 705 30

Several complications and diseases of pregnancy, delivery, and infancy have been found to be more prevalent among the mentally retarded than among normal children. In the course of reviewing 904 families of retarded children examined at the Tel Hashomer Assessment Center for the retarded (Israel), a group of 87 children with a nonspecific phenotype were isolated. Genetic analysis showed this to be of 75% autosomal recessive etiology. These mainly genetically retarded patients were used as a control group to assess a number of pathogenic factors in mental retardation. 3 groups of retarded patients with complete and reliable medical histories were compared: 87 retarded children with unidifferentiated phenotype, whose parents had normal intelligence and were either uncle-niece pairs or 1st cousins, and intelligence quotients (IQs) were less than 50 in 61 of these cases and between 50 and 69 in the remaining 26; 161 cases with idiopathic retardation with unrelated parents of normal intelligence, without retarded siblings; and 75 idiopathic retarded cases similar to the group of 161 cases but with only mild retardation. Complications of pregnancy, labor, and infancy were seen in 21 of the 61 control retarded groups with IQs under 50 and in 9 of the 26 with IQs 50 to 69. They were observed in 100 of the 161 cases of severe idiopathic retardation and in 53 of the 75 cases of mild idiopathic retardation. 11 factors were common enough to permit individual analysis: maternal age; history of multiple or recent spontaneous abortions; bleeding during pregnancy; toxemia; prematurity; low birthweight at term; signs of fetal or neonatal distress; neonatal anoxia; significant neonatal jaundice; convulsions during the 1st year of life; and evidence of early maternal neglect or chronic infantile illness. Maternal age over 35 at the time of birth was of no etiological importance. Abortions, either multiple or in the immediately preceding or subsequent pregnancy, were more than twice as common in the cases of mild idiopathic retardation as in the control group. The group with severe idiopathic retardation showed only a slight, insignificant increase in maternal abortions relative to the control group. Bleeding during early or middle pregnancy was more than 3 times as common in both the mild and severe idiopathic retarded groups as in the control group of homozygotes. Toxemia of pregnancy was twice as common among those with mild idiopathic retardation and 2-1/2 times as common in severe idiopathic retardation compared with the homozygote control group. Prematurity and low birthweight showed only a slight and nonsignificant rise in the 2 idiopathic groups relative to the controls. Signs of perinatal stress were practically nonexistent in the controls and were significantly more common in both the mild and severe idiopathic groups. Neonatal anoxia requiring some degree of medical attention was about 3 times as common in the 2 test groups. Events of neglect were as common in the control as in the other groups. Seizure prevalence in the 1st year of life showed a nonsignificant increase in the mild idiopathic group and an increase of marked significance in the severe idiopathic group relative to the controls.
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PMID:Pathogenic factors in idiopathic mental retardation. 719 53

Darier's disease is determined by an autosomal dominant gene and is clinically characterized by confluent hyperkarotic papules. Mental retardation may appear in up to 10-20% of patients. Convulsions, spinocerebellar tract degeneration, polyneuropathy, psychiatric disorders and cerebral atrophy occur with a low and as yet not precisely determined incidence. In the medical literature reviewed only two previous cases of cerebral atrophy associated with Darier's disease were found. This study describes six members of a family affected with an unusually high incidence of neurologic manifestations. The mother and her five sons showed skin lesions, which, on histological examination, revealed the characteristic pathological changes of Darier's disease. Two of the five siblings with convulsions and mental retardation underwent computed tomography of the brain and both patients revealed the classic findings in atrophy; moderate enlargement of the lateral ventricles and widening of the cortical sulci. Cerebral atrophy was correlated with mental retardation and convulsions.
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PMID:[Mental retardation convulsions and cerebral atrophy; main neurological changes in Darier's disease]. 739 29

A 33-year-man with an encephalopathy of unknown aetiology, had an history of epilepsia for 30 years. Different types of seizures were seen, including grand mal and frontal attacks. Epilepsia was associated with mental retardation and behavioral disorders. At the age of 33, he was admitted for repetitive general convulsions. Epilepticus status lasted for two weeks and improved with vigabatrin et clonazepam. General seizures, frontal motor convulsions with arms and trunk antepulsion, and dacrystic attacks were seen. The latter seemed to be like normal crying because they were accompanied by lacrimation, contorted and mournful facies, and sobbing sounds. One year later, repetitive cardiac arrests occurred during a new epilepticus status. Cardiac arrests, observed on ECG holter lasted 10 to 24 seconds, without cardiac dysfunction. EEG patterns on ECG holter lasted 10 to 24 seconds, without cardiac dysfunction. EEG patterns included theta and delta activity with rhythmic slow wave epileptic activity, predominating on right side, in temporal areas. CT scan was normal. MRI showed right cerebral atrophy, prevailing in the temporo-mesial region, with right temporal horn enlargement. This case report of dacrystic seizures, the first one with MRI study, suggests that temporo-mesial structures of the non-dominant hemisphere may be involved in dacrystic and asystolic attacks.
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PMID:[Dacrystic and asystolic epileptic seizures]. 748 7

The Schimmelpenning-Feuerstein-Mims-syndrome includes deformities and dysplasias of the skin, eyes, brain, skeleton, and heart. It may result from a malformation of the ectodermal and mesodermal blastoderm in the third week of gestation. We here report on 6 patients who presented between 1977 and 1993 in comparison with those cases in the literature. All children presented neurologic symptoms. The major symptom was a linear epidermal nevus. In addition we found mental retardation, convulsions, asymmetries of the cranial structures or dilated cerebral ventricles ipsilateral to the nevus. One child had a defect of the skull and scalp, a symptom not previously mentioned in the literature. Our patients exhibited a wide phenotypice spectrum ranging from mild to severe forms. Severe neurological symptoms were also found in patients despite minimal dermal involvement.
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PMID:[Schimmelpenning-Feuerstein-Mims syndrome and its neurologic manifestations. 6 personal cases and review of the literature]. 750 Jun 6

A case-control study (64 cases and 209 controls) was carried out to identify risk factors for the co-occurrence of early-onset partial epilepsy, cerebral palsy and mental retardation in children with and without cerebral malformations. History of epilepsy in first-degree relatives, maternal diseases in the two years before pregnancy, placental pathologies, low gestational age, being small for dates, neonatal convulsions and the need for cardiopulmonary resuscitation were associated with partial epilepsy, cerebral palsy and mental retardation. A family history of epilepsy in first-degree relatives was surprisingly frequent in both groups, suggesting that genetic factors play an important role for children with and without cerebral malformations.
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PMID:Risk factors for the co-occurrence of partial epilepsy, cerebral palsy and mental retardation. 758 60

The epilepsy gene map has been refined and extended with new information concerning benign familial neonatal convulsions, benign familial infantile convulsions, Unverricht-Lundborg disease, epilepsy with progressive mental retardation and juvenile myoclonic epilepsy. Understanding of the molecular basis of paroxysmal disorders affecting the central nervous system has been revolutionalized with the identification of mutations in genes for the neurotransmitter receptors, GLRA1 and CHRNA4, and a voltage-gated potassium channel, KCNA1, as causes of inherited neurological disease.
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PMID:Genetics of the epilepsies. 762 May 86

We describe 47 patients with Angelman syndrome (AS) from Belgium and the Netherlands, including the anamnestic data, the clinical and the behavioral attributes at different ages. The clinical picture of AS is most distinct between the ages of 2-16 years. Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia, tongue protrusion, mandibular prognathism, widely spaced teeth, stiff and puppetlike movements, typical stature, wide based gait) beside the mental retardation and (almost) absence of speech, which is a universal trait. The diagnosis in infants is based on only a limited number of clinical characteristics or on anamnestic data. However, if these occur in combination, they are indicative of AS. In older patients, the diagnosis may be hampered in part because of the changing behavioral characteristics and the decreasing frequency of fits. Other manifestations, such as scoliosis, may become more pronounced with age.
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PMID:Clinical profile of Angelman syndrome at different ages. 762 42

First, we longitudinally analyzed 177 cerebral-palsied children (CP) who were born in Kyoto City between 1977 and 1985. They were all visited St. Joseph Hospital for Crippled Children in Kyoto during the period 1977 to 1991 in order to investigate the relationship between the prognosis of perinatal care and the changing panorama of CP in Kyoto. The average occurrence rate of CP per 1,000 live birth during the 9 years in Kyoto was 1.12. 177 CP were divided into 3 groups according to their birth years: 1977-1979 (47 CP); 1980-1982 (62 CP); and 1983-1985 (68 CP). Then we compared the distribution of birthweights and gestational periods among the 3 groups. We found a significant increasing trend in the percentage of CP in babies with birthweight less than 2,000 g. Second, we examined 162 CP; 15 born outside of Kyoto were excluded because of extraneous influences of perinatal care. 162 were divided into 3 groups according to their birth years: 1977-1979 (44); 1980-1982 (56); and 1983-1985 (62). We also compared the risk factors and prognosis according to the birthweights and gestational ages among the 3 groups. This study revealed a decreasing trend in the frequency of convulsions of full term CP, dyspnea and oxygen administration of premature CP in the neonatal period. At the same time, the motor development of CP without mental retardation had improved significantly in the later period. However, in the last 3 years the distribution of the severity of motor disturbance at 4 years of age among CP with birthweight of 1,000-2,000 g was either mild or severe.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A study of children with cerebral palsy who were born between 1977 and 1985 in Kyoto City; a report from an institution for handicapped children]. 780 81


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