Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 14-year-old boy had suffered from intermittent acute hepatic porphyria, myoclonic convulsions and mental retardation (Lennox-Gastaut syndrome). The porphyria was treated by stopping the administration of phenobarbitone and phenytoin. Sodium valproate at a dose of 70 mg/kg per day lessened the severity and frequency of convulsive crises.
 ...
PMID:Aucte intermittent porphyria and epilepsy. 11 1

The epileptic encephalopathies of infancy and childhood include West syndrome, Lennox-Gastaut syndrome, severe myoclonic epilepsy of early childhood and related syndromes. The exact limits of these syndromes are still a subject of debate. The clinical features include several types of brief, frequently repeated seizures associated with mental retardation. The causes are multiple and brain malformations and dysplasias play an important role. Treatment remains unsatisfactory and the place of surgery seems limited.
 ...
PMID:Epileptic encephalopathies of early childhood. 162 62

A 10-year-old girl with developmental delay, mental retardation and intractable seizures is reported. She manifested clinically as Lennox-Gastaut syndrome with unknown etiology before admission. Brain MRI revealed a band-like lesion over the bilateral subcortical region being later recognized as band-form heterotopia. This type of heterotopia may be overlooked easily due to its symmetrical distribution and mild degree of cortical convolutional anomaly. As it is often associated with intractable seizures and psychomotor retardation, the prognosis is poor. This patient responded poor to ketogenic diet and anticonvulsants. We present this case and review the related articles.
 ...
PMID:[Lennox-Gastaut syndrome with band form heterotopia: a case report]. 165 45

Diffuse neuronal migration disorders associated with epilepsy can now be recognized by modern neuroimaging techniques, particularly high-resolution MRI. We report 10 patients with a recently described MRI picture of continuous or generalized band heterotopia underlying the cortical mantle, giving the appearance of a "double cortex." They have epilepsy, and almost all have mental retardation. The epileptic disorder varies in nature and degree of severity. Patients may present with infantile spasms, a Lennox-Gastaut syndrome, or other forms of secondary generalized or multifocal epilepsy. Response to medical treatment is variable. Callosotomy may lead to considerable reduction of drop attacks, present in 60%. Mental retardation is usually mild or moderate, and only rarely severe. It correlates with the type of epileptic syndrome, and is greater in patients with more disorganized cortex overlying the heterotopia. Recognition of this entity by MRI is important for appropriate diagnosis of the epileptic disorder, planning of therapeutic strategy, and prognosis.
 ...
PMID:Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients. 192 11

Sixty-six children with various types of severe drug-resistant epilepsy were entered into a long-term, dose-rising study of vigabatrin after a 4-week run-in placebo period. All the children were receiving one to three other antiepileptic drugs, the doses of which were not changed during the 6-month dose titration phase. Following the introduction of vigabatrin, 11 patients became seizure free, and 28 responded with a greater than 50% reduction in seizure frequency. The following types of epilepsy responded favorably in order of decreasing efficacy: cryptogenic and symptomatic partial epilepsy, other symptomatic generalized epilepsy, and Lennox-Gastaut syndrome. However, three of nine patients with myoclonic epilepsy showed an increase in seizure frequency. Optimal responses were found with vigabatrin doses of 40 to 80 mg/kg/day, although no significant adverse effects were noted with doses of higher than 100 mg/kg/day. Thirty-eight responders continued on vigabatrin, 19 of whom have been treated for more than 1 year, with generally good efficacy. As a result of discontinuing concomitant antiepileptics, six patients are on monotherapy with vigabatrin, four of whom are seizure free. Vigabatrin tolerability was good, with 39 of 66 children reporting no adverse effects. Hyperkinesia was reported in 17 patients (26%), and two had to drop out of the study. All these patients had a history of hyperkinesia or mental retardation. In patients in whom vigabatrin dose was reduced because of hyperkinesia, a dose increase could later be instituted without recurrence of symptoms. There was no change in neurologic examination and no drug-related abnormalities in clinical laboratory data.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Vigabatrin in childhood epilepsy. 194 Jan 22

Twenty-four medically refractory seizure patients, who did not qualify for excisional surgery, had anterior two-thirds corpus callosum section. Three to 11 years' postoperative follow-up suggests that this procedure can (1) lateralize a frontal lobe focus, which may lead to subsequent localized excision and (2) significantly reduce seizure frequency and severity in 75% of the patients without giving any permanent neurologic deficits. Patients with an ictal focus confined to one frontal lobe did best (8/8 improved), followed by patients with secondarily generalized seizures and multifocal bilateral foci (5/6 improved). Patients with mental retardation benefited less frequently (5/10 improved), but 4/4 from this group with ictal falls associated with Lennox-Gastaut syndrome did benefit. In this series, the improvements following the anterior partial section were lasting if present at 1 year of follow-up. Anterior corpus callosum section should be considered as a diagnostic (lateralizing) and therapeutic option in appropriately defined medically refractory patients who do not qualify for excisional surgery.
 ...
PMID:Results of anterior corpus callosum section in 24 patients with medically intractable seizures. 339 67

Atonic seizures, atypical absence seizures, myoclonic seizures, tonic seizures, and infantile spasms are among the most difficult to control in children. Certain 1,4-benzodiazepines may be effective against these seizure types. Thus, clonazepam has been shown to reduce the frequency of absence, atypical absence, myoclonic, atonic, and complex partial seizures in children. Furthermore, both clonazepam and nitrazepam have been shown to be effective in the treatment of infantile spasms. However, their usefulness is limited by a deleterious effect on neurologic function, particularly on cognition. Controlled studies in animals and in adult patients and volunteers have demonstrated that clobazam has less neurotoxicity than 1,4-benzodiazepines and, in addition, may possess a psychotropic effect. Uncontrolled studies of clobazam in children suggest that this drug may be effective in the treatment of partial seizures, startle-induced seizures, infantile spasms, and Lennox-Gastaut syndrome. We studied the effect of clobazam in children whose seizures were resistant to most other antiepileptic drugs. Mental retardation was present in 80% of the children, and 62.5% had Lennox-Gastaut syndrome. Tolerance to clobazam developed in approximately one-third of patients, but this was frequently only partial and often responded to an increase in dosage. Of 50 children studied for a minimum of 3 months, seizures were controlled completely in 10 and frequency of seizures was reduced by more than 50% in a further 17. In most cases, parents observed a striking improvement in neurologic function, particularly in alertness, concentration, and balance. Thus, clobazam may be of value in the treatment of those seizures which are most difficult to control in children.
 ...
PMID:Benzodiazepines in the treatment of children with epilepsy. 374 24

From a group of 66 patients with the Lennox-Gastaut syndrome, 12 whose manifestations had started after the 6th year of life were selected for study. These patients were observed clinically and electroencephalographically for an average period of 2.5 years. We concluded that the late-onset syndrome can: occur after a long interval between diffuse encephalopathy and the first clinical manifestations, with or without previous alterations in psychomotor development; be associated from the onset with serious mental retardation; exhibit simple, complex and mixed seizures similar to those observed in the early form. These patients can also: suffer complex and mixed epileptic seizures previously unreported; paroxysmal interictal EEG abnormalities that overlap those of the early form; and spike-slow wave complexes in the EEG that can be actived by hyperpnea. Our results demonstrate that the incidence of LGS after 6 years of age does not necessarily imply a lower frequency of organic antecedents, or better neuropsychomotor development up to the onset of the syndrome or the presence of a higher rate of nonspecific seizures (generalized or partial seizures, and mainly those with elaborate symptomatology). The critical and encephalographic expression of the syndrome, which is secondary and starts after the 6th year of age, may depend at least in part on the age when diffuse encephalopathy started.
 ...
PMID:Secondary late-onset Lennox-Gastaut syndrome: a critical view. 646 53

Some results of a follow-up study concerning 103 observations of chronic and transitory Lennox-Gastaut syndrome (SLG) are presented. The full-blown syndrome in the chronic SLG (mean duration 21 years and 2 months) is in 100% of the cases characterized by tonic seizures and 'complex absences', mental retardation and abnormal EEG with slow spike-waves and 10 c/sec recruiting bursts. Slow spike-waves are not the most specific EEG pattern of SLG with chronic outcome. The statement is discussed.
 ...
PMID:[Nosological limits of the Lennox-Gastaut syndrome (author's transl)]. 734 3

Two sporadic cases of tuberous sclerosis presented with flexion spasms in a male and early intractable seizures evolving into a Lennox-Gastaut syndrome in a female. Early hypotonia and lack of substantial motor development are key features of the Rett syndrome, more easily overlooked than hand-wringing. Clumsy self-feeding and immature ambulation were the highest achievements in the second case now aged 36 years. Immaturity rather than degeneration, dementia, or assumed tissue destruction, is the capital feature of many disorders of early brain development leading to profound motor as well as mental retardation. Studying unusual clinical combinations is more likely to shed light on the underlying etiology than focusing on procrustean syndrome definitions.
 ...
PMID:Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development. 751 Sep 33


1 2 3 4 Next >>