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 two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, microcephaly, mental retardation, and a distinct hysmorphic pattern. Both exhibited a ridged metopic suture, hypertelorism, a short nose with a broad base, hypoplasia of the distal phalanges and nails of the toes, and inguinal hernias. In addition the 18-month-old girl exhibited epicanthal folds, strabismus, ptosis, and a small ventricular septal defect; she had been exposed in utero to 300 mg mesantoin daily. Her 6 1/2-year-old brother was more severely retarded, lacking speech and presenting with infantile autism. During pregnancy the mother had taken 400 mg mesantoin daily. About half of the offspring of epileptic women treated with hydantoin during pregnancy are mentally retarded, and 11% exhibit in addition the pattern of dysmorphic findings known as the fetal hydantoin syndrome. Hydantoin should therefore be strictly avoided in epileptic women of child-bearing age unless safe contraceptive measures are taken. In the event of pregnancy, therapeutic abortion should be considered if hydantoin therapy must be maintained.
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PMID:[Fetal hydantoin syndrome in siblings]. 10 83

Similar movement disorders developed in two 8-year-old retarded children while they were receiving phenytoin. Seizures subsequent to a diphtheria-pertussis-tetanus immunization had developed in each child at 1 to 2 months of age. A static encephalopathy ensued, characterized by mental retardation, ataxia, spasticity, and a mixed seizure disorder. Intermittent dystonia and choreoathetosis developed insidiously while serum phenytoin concentrations were in the therapeutic range. Sustained dystonia and choreoatheosis developed 2 hours after an oral provocation with phenytoin. The baseline abnormalities on the electroencephalogram remained unchanged during the choreoathetosis. Recognizable metabolic abnormalities known to be associated with similar movement disorders were excluded. It was concluded from these studies that the movement disorder is secondary to phenytoin and can occur at therapeutic serum concentrations. Phenytoin is a central anticholinergic agent and a central stimulant of serotonin, and may induce movement disorders as a result of altering these neurotransmitters in the brain. The variable expression of these movement disorders may relate to the nature of the preexisting striatal insult.
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PMID:Phenytoin-induced dystonia and choreoathetosis in two retarded epileptic children. 94 1

Fifty-four consecutively referred patients with uncontrolled epilepsy were subjected to Therapeutic Drug Monitoring on an out patient basis. Regular 2 weekly follow up for a minimum period of 2 months was done, after altering the drug dosage and bringing plasma level(s) within therapeutic range. Plasma levels of Phenobarbitone, Phenytoin and Carbamezepine were done by High Pressure Liquid Chromatography. Eventually, 24 patients were controlled and 30 remained uncontrolled. Significant differences between these 2 groups were found, as regards, duration of epilepsy (p < 0.01), associated mental retardation (p < 0.02), initial carbamazepine dosage and plasma levels in patients on carbamazepine montherapy (p < 0.02 and P < 0.01, respectively) and final phenytoin plasma levels in patients on combined therapy with phenobarbitone and phenytoin (p < 0.05). This study emphasizes the importance of early diagnosis and treatment of epilepsy with the help of plasma level monitoring of anti-epileptic drugs.
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PMID:"An analysis of epileptic patients nonresponsive to drugs". 148 24

Diphenylhydantoin, which was first introduced in clinic by Meritt and Putnam in 1938, has been in wide use for the treatment of epilepsy because of its excellent antispasmodic action. On the other hand, Diphenylhydantoin induced gingival hyperplasia has been examined by many authors in the dental field since gingival hyperplasia was reported by Kimball as its side effect. Recently, we had an opportunity for performing gingivectomy on hypertrophic gingivitis in an epileptic with mental retardation and visual disturbance, on Phenytoin (5,5-Diphenylhydantoin) medication. Some information obtained is reported, together with its therapeutic course.
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PMID:[Clinical study of gingival hyperplasia in epilepsy patient]. 253 49

Sixty-two families with fetal diphenylhydantoin exposure were studied during two or more pregnancies. In 15 of these families at least one of the exposed children had some of the physical effects of DPH exposure ("affected" families); in the remaining 47 families no exposed child was affected ("unaffected" families). Review of 62 family histories and pedigrees was not helpful in differentiating these two groups for counseling purposes. However, mothers who had one affected child appeared to be at much higher risk for having subsequent affected children (9 of 10) if phenytoin use was continued through future pregnancies than were mothers whose first-born child was unaffected despite being exposed to phenytoin during the pregnancy (5 of 52 among all families, or 1 of 48 when only children exposed throughout the entire pregnancy were included). The difference between families with the first exposed child affected and first exposed child unaffected was highly statistically significant (p less than 0.0001). School and learning problems and developmental or mental retardation were present in both groups, and significantly more frequently in affected families. Physical and growth abnormalities were noted in both affected and unaffected family groups, also at a significantly higher rate in affected families.
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PMID:Family studies in fetal phenytoin exposure. 339 93

The literature on the correlation of epilepsy and psychosis is reviewed briefly. The terms "forced normalization" and "alternative psychosis" and further the risk factors in the genesis of psychosis in epilepsy are underlined with special emphasis on childhood and adolescence. Furthermore the case of a girl aged 16.7 years is reported. This girl developed blinking fits at the age of 7 years and in 1978 at the age of 16 paranoid-hallucinatory symptoms with temporarily increasing paroxysmal potentials in the EEG following an initial depressive phase. Phenytoin and Valproate was administered. The psychotic and epileptic symptoms diminished with simultaneous amelioration of the EEG. After discharge a neuroleptic medication was added temporarily due to slight exacerbation of the psychotic symptoms. Finally risk factors of psychosis in epilepsy are considered with special respect of mental retardation and age of the patient.
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PMID:[Coincidence of epilepsy and psychosis in a 16-year old female patient (author's transl)]. 677 84

The influence of Phenytoin on the human embryo is knowing to produce the fetal hydantoin syndrome. Even this syndrome is knowing to produce microcephaly, mental retardation, eyelid ptosis etc it is not mentioned the influence of Phenytoin on the human metanephros. This is the reason of our study, made on human embryos. Their mothers received during pregnancy Phenytoin. In one studied embryo we have remarked a malformation in the metanephros. Even we can not make a strong correlation between the malformation and the Phenytoin we consider that pregnant women should not use Phenytoin during pregnancy.
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PMID:[Phenytoin influence on human metanephros]. 1209 25

Selecting a specific antiepileptic drug for the treatment of seizures in those with mental retardation requires a balance of the drug's likely efficacy for both seizures and comorbid disorders versus adverse events. Phenobarbital is the most commonly used of the barbiturate drugs. Phenytoin is actually one of the best tolerated AEDs (side effects in most patients are signs of neurotoxicity). Carbamazepine is the drug of choice for many neurologists for the treatment of partial epilepsy, with a relative lack of sedation and low incidence of cosmetic, cognitive, and behavioral side effects. For more than 30 years, valproate has been available for treatment of generalized and partial seizures, convulsive or nonconvulsive. For this reason, it is used in the treatment of epilepsy in the multiply handicapped and mentally retarded. Benzodiazepines are the drug of choice for treatment of status epilepticus; however, good medical control requires early diagnosis and treatment.
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PMID:Treatment considerations: traditional antiepileptic drugs. 1260 8