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)

The effects of rapid rectal diazepam introduction (DZP test) were investigated in 43 patients (age range 5 months-14 years) with electrical status epilepticus (ESE) undergoing EEG monitoring. A remission of the paroxysmal activity was obtained in 58% of cases, a negative response in 42%, particularly in hypsarrhythmic patterns. DZP test responders were aged over 12 months with organized paroxysmal EEG patterns, in particular with ESE during sleep (ESES). The patients who responded to the DZP test underwent short cycles (3-4 weeks) of relatively high dosage DZP (0.5-0.75 mg/kg). The response to treatment was positive in 64%, particularly in ESES conditions. 56% of responders to the DZP test but not to DZP therapy (five out of nine patients) presented a significant mental retardation; maturational factors were also likely to be present.
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PMID:Treatment of electrical status epilepticus by short diazepam (DZP) cycles after DZP rectal bolus test. 857 19

A previously healthy 8-month-old girl developed exanthem subitum and acute encephalopathy with status epilepticus, quadriplegia and bilateral abducens nerve palsies. Human herpesvirus-6 DNA was found in the cerebrospinal fluid by the polymerase chain reaction at the acute stage. Cranial computed tomography showed low density areas in the thalami and in the cerebellar and abducens nuclei. The distribution of the lesions was consistent with acute necrotizing encephalopathy. As for the thalamic lesions, a T2 weighted magnetic resonance image on the 24th day of the illness demonstrated low signal intensity surrounded by high intensity; 99mTc-ECD SPECT showed hypoperfusion, which suggested irreversible tissue damage. The patient is now 1 year 6 months old and has spastic quadriparesis with mental retardation and abducens nerve palsies.
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PMID:Serial neuroimages of acute necrotizing encephalopathy associated with human herpesvirus 6 infection. 857 24

After a short historical review, the symptomatology of the Lennox-Gastaut syndrome (LGS) as described in the past 30 years is summarized. Next, all papers published in the past 25 years and presenting the author's own patients are critically reviewed. These considerable patient data enabled to some extent supplementary statistical evaluation of the symptoms and signs of LGS. However, only three of the papers reported largely similar symptom complexes whose components were often combined. While not adequate to allow statistical evaluation, these data have been reviewed with descriptive analysis. The resulting diagnostic criteria correspond to those established by Gastaut in 1982 and are convincing because of their frequency of appearance. In addition, they confirm the 1989 description of LGS by the Commission on Classification and Terminology of the International League Against Epilepsy. These criteria and their frequency are: (1) diffuse slow spike waves in the EEG (100%). (2) tonic seizures (94%), (3) atypical absences (80%), (4) runs of rapid spikes in NREM sleep (approx. 70%), (5) status epilepticus (60%), (6) atonic seizures (43%). Resistance to therapy and persistence of epilepsy are amongst the most frequent features. Mental retardation is a leading symptom, occurring on average in 90% of cases. Reliable statistical analysis of the electroclinical data should be performed following the numerical taxonomy and should provide nosological entities and classifications based on objective, reliable and logical fundamentals. This is an indispensable prerequisite for differential diagnosis. Sections follow which discuss recent morphological and neurometabolic findings concerning the etiology as well as the genetics of LGS. The discussion of the differential diagnosis outlines the nosological delineation of LGS from epilepsy with myoclonic-astatic seizures, benign partial epilepsy of childhood with centrotemporal sharp waves, certain focal epilepsies of the frontal and temporal lobe. Lastly, the myoclonic variant of LGS is discussed. This review shows how frequently in the past LGS was investigated using deficient methodology. Additional studies should be undertaken in collaboration with experienced statisticians in order to complement the above analysis of the syndrome.
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PMID:[Nosology of Lennox-Gastaut syndrome]. 885 Dec 92

Aetiology and outcome of status epilepticus in children are different in comparison with adult patients. The main characteristics of status epilepticus in 112 children (age 6 months-15 years) are presented, with special attention to age, duration of status epilepticus, causes, medical complications and therapy. The greater part of these children was known to have had prior epilepsy, a considerable number with mental retardation. Outcome in convulsive status epilepticus is influenced by cause, duration, age, the occurrence of medical complications and quality of treatment. Outcome in nonconvulsive status epilepticus is good and does not seem to be influenced by the treatment strategy. The use of a therapy protocol may prevent unnecessary delay and contribute to a better outcome.
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PMID:Status epilepticus in children. 890 18

We observed a young patient with slight mental retardation, suffering from drug-resistant tonic-clonic seizures, who presented a status epilepticus (SE), in two separate periods when valproic acid (VPA) was added to the phenobarbital (PB) already being used in the patient's therapy. The VPA-induced SE was characterized by normal plasma levels of antiepileptic drugs (AEDs), normal ammonemia and normal liver function. The case we studied represents the first report on a VPA-induced SE. Furthermore the case confirms that VPA, as well as causing encephalopathy secondary to hyperammonemia, may also provoke a primary involvement of the central nervous system (CNS), specially when used in young epileptic, mentally retarded subjects. In an attempt to explain the paradoxical effect of VPA we hypothesise that the SE could be due to an increase in excitatory activity producing a consequent epileptogenic effect in those subjects with a predisposition for toxic reaction to VPA therapy due to congenital anomalies of neural networks.
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PMID:Valproate-induced epileptic tonic status. 970 Aug 38

In 1973, a syndrome was reported comprising of wrinkled skin over the dorsum of hands, feet, and abdomen, reduced skin elasticity, skeletal involvement, craniofacial anomalies, mental and developmental delay, and failure to thrive. Only nine cases have been reported. Three additional cases with deletion 2q32 show some manifestations of this syndrome. We present another child with this syndrome with prominent neurological involvement manifested by mental retardation, microcephaly, and an episode of status epilepticus.
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PMID:Neurological involvement in a child with the wrinkly skin syndrome. 1040 78

We describe 11 patients affected by Landau-Kleffner syndrome (LKS) with a mean follow-up of 9 years and 8 months. EEG recordings during wakefulness, NREM and REM sleep showed a bitemporal electrical status epilepticus during sleep (BTESES) in all cases; four of them presented a shift from a BTESES towards an 'intercalated electrical status epilepticus during sleep' (IESES) accompanied by a global regression of cognitive and behavioural functions in 3/4 of cases. At the last observation, only 18.2% of cases presented a complete language recovery and mental retardation was evident in 63.6%. The prognosis of LKS in our cases may depend on the interaction of different negative factors such as onset of aphasia before 4 years, its duration for longer than 1 year, long-lasting duration and continuity without fluctuations of BTESES/IESES, probably preexisting mild speech delay. It is important for the prognosis to utilize antiepileptic treatment and possibly neurosurgical techniques to eliminate EEG paroxysmal abnormalities. At present, no similar cases with clinical-EEG evolution from LKS to electrical status epilepticus during sleep (ESES) have ever been described. Our observation demonstrates that LKS and ESES classified as different clinical-EEG syndromes represent two aspects of the same brain dysfunction and they may exist separately or pass one into the other with a change in the clinical-EEG picture. The common origin of the two syndromes is confirmed by recent functional brain imaging, neurophysiological and neurosurgical techniques.
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PMID:Landau-Kleffner syndrome (LKS): long-term follow-up and links with electrical status epilepticus during sleep (ESES). 1020 25

A 32-year-old man with hemiconvulsions, hemiplegia, epilepsy (HHE) syndrome is described. He was well developed with a normal pregnancy and delivery, but at age 10 months, he had status epilepticus during a febrile illness. Thereafter, he was noted to have left hemiparesis and mental retardation with recurrent hemiconvulsions. Magnetic resonance (MR) images showed atrophy and degeneration of the right cerebral cortex and white matter, homolateral thalamus, caudate nucleus, and hippocampus, with hyperintensities in both T2-weighted (TR/2200, TE/90) and proton (TR/2200, TE/30) images. There were also slight bilateral cerebellar atrophies. Quantitative single photon emission computed tomographic (SPECT) images using technetium-99m-ethyl cysteinate dimer (99mTc-ECD) revealed markedly reduced cerebral blood flow (CBF) in the right cerebral hemisphere, homolateral thalamus, caudate nucleus and bilateral cerebellum. Bilateral putamen and the medial occipital lobe showed normal findings on MR images and normal regional CBF in SPECT images. We suppose these selective neuronal injures in this case of HHE syndrome will be mainly due to histotoxic factors in epileptic brain damage.
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PMID:[Neuroimaging findings of hemiconvulsions, hemiplegia, epilepsy (HHE) syndrome]. 1039 81

Of the gene-rich regions of the human genome, Xq28 is the most densely mapped. Mutations of genes in this band are responsible for 10 syndromal forms of mental retardation and 5 nonsyndromal forms. Clinical and molecular studies reported here add an additional syndromic form of X-linked mental retardation (XLMR) to this region. The condition comprises short stature, small hands and feet, seizures, cleft palate, and glaucoma. One affected male died at age 19 years in status epilepticus, but others have survived to old age. Carrier females do not have somatic anomalies or mental impairment. The gene is localized to the terminal 8 Mb of Xq28 with markers distal to DXS8011 showing linkage to the disorder with a lod score of 2.11 at zero recombination.
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PMID:X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. 1039 35

A 9-year-old male with congenital bilateral perisylvian syndrome is described. He had pseudobulbar palsy, mental retardation, and intractable epilepsy. Computed tomography and magnetic resonance images of the brain demonstrated bilateral perisylvian malformations and a diffuse pachygyric appearance. At 8 years of age, he had episodes of excessive drooling, fluctuating impairment of consciousness, unsteady sitting, and frequent head drop that lasted several days. The electroencephalogram demonstrated continuous diffuse slow spike and waves. These findings suggested atypical absence status epilepticus. Intravenous administration of diazepam resulted in transient improvement of clinical and electroencephalographic findings. Status epilepticus recurred within several minutes after diazepam administration. Although no patient has been reported to have a history of status epilepticus among those affected by this syndrome, it seems that atypical absence status can occur more frequently than expected, as seen in Lennox-Gastaut syndrome. After recognition and confirmation of nonconvulsive status epilepticus, immediate treatment must be attempted.
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PMID:Nonconvulsive status epilepticus in a child with congenital bilateral perisylvian syndrome. 1046 49


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