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)

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

Thirty children (20 males, 10 females) with intractable epilepsy received vigabatrin (VGB) as an open label basis to preexisting antiepileptic drugs. The seizure types consisted of generalized tonic clonic seizure [10], complex partial seizure [8], myoclonic seizure [7], and mixed type with simple partial seizure, complex partial seizure and/or generalized seizure [5]. The cause of the epilepsy was cryptogenic in 16 and symptomatic in 12. The current dosage regime of anticonvulsants were maintained during the trial period. VGB at 40-80 mg/kg/day were titrated according to the clinical response for a period of 2-24 months. The result of treatment was categorized as 'responders' with 13 (43%) having 50-75% reduction of seizure frequency; and 'non-responders' which consisted of 17 children. There was no relationship between outcome of VBG add-on therapy and the sex, age of onset, type of seizure, type of epileptic syndrome, etiology, associated neurological abnormality, mental retardation or abnormal brain CT/MRI findings.
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PMID:Open label trial with vigabatrin in children with intractable epilepsy. 750 85

The corpus callosum (CC), the main structure subserving hemispheric collaboration, that is necessary for efficient cognitive functioning, undergoes developmental processes such as axonal retraction and myelination. Callosal growth therefore is vulnerable for adverse events such as perinatal asphyxia, but there are also genetic and epigenetic factors that determine form and thickness. MRI scans of 110 children, either with specific learning disabilities (LD), i.e. dysphasia/dyslexia, or with several degrees of general LD, showed callosa that were highly variable in size. The callosal size corrected for brain size did not vary significantly according to the severity of the LD, although it tended to be smaller in severe LD, i.e. mental retardation. Callosal size varied however, due to the likely presence of genetic influences or of adverse perinatal events. Children with familial dysphasia/dyslexia, had a thicker CC, possibly reflecting a poorly understood neurodevelopmental mechanism that inhibits the establishment of cerebral dominance. LD children (all subgroups together) with perinatal adverse events had a smaller CC than the familial cases, suggesting CC damage. Despite a multitude of developmental factors influencing the final size, this study suggests that total callosal size, supposedly linked to interhemispheric function, may contribute to the pathophysiological mechanisms that give rise to LD.
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PMID:Callosal size in children with learning disabilities. 753 Sep 64

MRI findings of bilateral central macrogyria allowed the diagnosis of a congenital variant of Foix-Chavany-Marie syndrome in four patients aged between 13 and 32 years, with facio-pharyngo-glosso-masticatory central diplegia, mental retardation and seizures.
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PMID:MRI of congenital Foix-Chavany-Marie syndrome. 756 51

Cerebral cortical dysgenesis (CD) is a heterogeneous disorder of cortical development and organization commonly associated with epilepsy, with a variety of subtypes. We reviewed the clinical, EEG and neuroimaging features in 100 adult patients with CD. There were 39 men and 61 women with a median age of 27 years (range 15-63 years). All patients were referred because of medically refractory epilepsy. Median age at seizure onset was 10 years (range 3 weeks to 39 years); in 30 patients, onset was in adulthood. The epilepsy was classified as generalized in 16 patients and localization-related in 84. Of the latter, the epileptic syndromes in decreasing frequency were frontal (32%), temporal (31%), parietal (14%) and occipital (7%). Only 15% of patients had a history of status epilepticus. Prenatal/perinatal problems were reported in 32 patients but these were severe in only four: exposure to drugs (three) and infection (one) during the first trimester. Delayed developmental milestones were seen in 10%, mental retardation in 9%, additional congenital abnormalities in 4% and neurological deficits in 14% of patients. Diagnosis of CD was based on neuroimaging in 70, pathology in four and both methods in the remaining 26. The following subcategories were identified: agyria/diffuse macrogyria (four patients), focal macrogyria (16), focal polymicrogyria (one), focal macrogyria/polymicrogyria associated with a cleft (11), minor gyral abnormalities (seven), subependymal grey matter heterotopia (20), bilateral subcortical laminar grey matter heterotopia (eight), tuberous sclerosis (five), focal cortical dysplasia/microdysgenesis (seven) and dysembryoplastic neuroepithelial tumours (DNT) (21). Sixty-eight percent of patients had normal CT and 19 out of 36 patients had normal previous conventional MRI. MRI-based hippocampal volume measurements in 47 patients revealed ratios (smaller: larger hippocampus) of < 0.90 in 16, 0.90-0.94 in 14 and > or = 0.95 in 17 patients. EEGs were normal in only five patients. Alpha rhythm was preserved in 78 patients, including one patient with bilateral posterior macrogyria. Localized polymorphic slow activity was present in 43 patients. Five of 68 patients with focal/unilateral CD had only bilateral independent/synchronous spiking and 14 out of 32 with diffuse/bilateral CD only focal/unilateral spiking. In 60 patients with nondiffuse CD or with abnormal gyration or DNT, the epileptiform abnormalities were less extensive than coextensive with the lesion in 28, more extensive than and overlapped the lesion in 18 and remote from the lesion in five; nine patients did not have epileptiform abnormalities. There was poor correlation between the epileptic syndromes and EEG abnormalities and the location/extent of CD as defined by MRI and pathology.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients. 760 83

During the last five years, it has been recognized a very high incidence of autism in children affected by tuberous sclerosis; we believe that this association may be more than just a coincidence and that it may be that the autistic behavior spectrum is related to a great extent, to the anatomic localization of tubers in the frontal and temporoparietal areas. In this study we report our experience with 27 consecutive children, 12 boys and 15 girls with a diagnosis of tuberous sclerosis confirmed by clinical and MRI and or CT findings according to the diagnostic criteria developed by the Diagnosis Criteria Committee of the National Tuberous Sclerosis Association. They were studied during the period of 1988 to 1990. Ages range from 18 months to 16 years (mean: 6.5 years). Twenty-four had epilepsy and were receiving antiepileptic treatment. Seven of the 27 children (25.9 per cent) fulfilled the diagnostic criteria for autistic disorder according to the DSM-III-R. The autistic behavior was evident in all of them by three and half years. The seven children had mental retardation. MRI and CT findings with subependymal calcifications and cortical tubers of frontal and temporoparietal predominance were seen in five of the seven autistic children. In one child, CT was normal and in the other it was not performed. Five were girls and all had West syndrome; two were boys and neither had seizures. Most of the reported cases of children with tuberous sclerosis and autism had experiences West syndrome. In our patients, five of the seven children with autism had west syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Autism in tuberous sclerosis]. 760 68

Thirty-one individuals awaiting trial or sentencing for murder or undergoing an appeal process requested a neurologic examination through legal counsel. We attempted in each instance to obtain EEG, MRI or CT, and neuropsychological testing. Neurologic examination revealed evidence of "frontal" dysfunction in 20 (64.5%). There were symptoms or some other evidence of temporal lobe abnormality in nine (29%). We made a specific neurologic diagnosis in 20 individuals (64.5%), including borderline or full mental retardation (9) and cerebral palsy (2), among others. Neuropsychological testing revealed abnormalities in all subjects tested. There were EEG abnormalities in eight of the 20 subjects tested, consisting mainly of bilateral sharp waves with slowing. There were MRI or CT abnormalities in nine of the 19 subjects tested, consisting primarily of atrophy and white matter changes. Psychiatric diagnoses included paranoid schizophrenia (8), dissociative disorder (4), and depression (9). Virtually all subjects had paranoid ideas and misunderstood social situations. There was a documented history of profound, protracted physical abuse in 26 (83.8%) and of sexual abuse in 10 (32.3%). It is likely that prolonged, severe physical abuse, paranoia, and neurologic brain dysfunction interact to form the matrix of violent behavior.
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PMID:Neurologic abnormalities in murderers. 896 Jul 68

Subcortical laminar heterotopia (band heterotopia) is a brain malformation now recognized by MRI. We report 3 families (2 previously described) in which several members had subcortical laminar heterotopia or a more severe malformation (agyria/pachygyria). In these families, subcortical laminar heterotopia were observed in women and were associated with epilepsy or slight mental retardation depending on the extend of heterotopia. Males had lissencephaly with refractory epilepsy and severe mental retardation. The pedigrees of these families demonstrate that these 2 malformations originate from a single genetic origin. A single X-linked dominant gene is postulated. Diagnosis of subcortical laminar heterotopia in a female or lissencephaly in a male (except in the case of Miller-Dieker syndrome) requires appropriate genetic counselling in the family: brain imaging should be performed in relatives.
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PMID:[Subcortical laminal heterotopia and lissencephaly: cerebral malformations of X-linked inheritance]. 767 53

The brain of patients with adult type myotonic dystrophy was measured using MRI, and compared with age- and sex-matched controls. The width of the cerebrum, and the areas of the corpus callosum, pons and pituitary gland were significantly smaller in adult-type myotonic dystrophy than in the controls. The IQ of the patients with adult-type myotonic dystrophy was lower than that of controls. These results demonstrate a decreased volume of the brain and pituitary glands in myotonic dystrophy. These findings suggest a causal relationship for the mental retardation and endocrine dysfunction that may occur.
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PMID:Neuroimaging study of myotonic dystrophy. II. MRI measurements of the brain. 776 59

Renal angiomyolipoma is common in the tuberous sclerosis complex (TSC), the classic features of which are facial angiofibroma, seizures, and mental retardation. We report a family with three affected members demonstrating the wide spectrum of TSC-associated lesions ranging from asymptomatic findings to life-threatening complications. The predominant symptoms of the index patient were hypertension and mild renal insufficiency at age 48, resulting in end-stage renal failure at age 63 due to giant bilateral angiomyolipoma of the kidneys. The two TSC-affected siblings had died years previously, one from pulmonary lymphangioleiomyomatosis and the other during an epileptic state; the latter had situs inversus totalis as another remarkable finding. The diagnosis of TSC may be overlooked if CNS symptoms are absent and if cutaneous lesions are masked by cosmetic procedures, as occurred in the index case. Chronic renal failure due to angiomyolipoma is not widely known to clinical nephrologists, but develops in approximately 15% of TSC patients. Displacement of functional renal parenchyma by abnormal tissue appears to be the major pathogenetic mechanism leading to end-stage renal failure. Angiomyolipomas can be diagnosed from this characteristic sonographic pattern and the demonstration of fatty tissue in CT or MRI. Multiple renal cysts are also common in TSC. Therefore TSC should be considered in the differential diagnosis of polycystic kidney disease.
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PMID:Tuberous sclerosis complex with end-stage renal failure. 779 29


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