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 case of adult type mucolipidosis with beta-galactosidase and sialidase deficiency is described. This patient, a woman aged 20, had mental retardation, macular cherry-red spots, corneal clouding, gargoyle-like face, cerebellar ataxia, myoclonus and convulsions beginning at the age of 14. Bony deformities, vacuoles in the peripheral lymphocyte and foamy cells in the bone marrow were also noted. Biopsy study of the sural nerve and vermiform appendix disclosed many vacuoles in almost every kind of cells, although the accumulated substance in these vacuoles could not be characterized histochemically or ultrastructurally. Deficient leukocyte beta-galactosidase and sialidase were confirmed. There was increased urinary sialoglycopeptide and increased siliac acid and hexosamine in the glycoprotein of lymphocytes. Leukocytes sialidase activites of the parents were 30 to 50% of the control values. These results suggest a genetic defect of sialidase.
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PMID:Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies. 9 67

A familial disorder was characterized by chorea, ataxia, myoclonus, convulsions, dementia, and mental retardation. In five cases, the main lesion affected cerebellar dentate nuclei, with nerve cell loss, gliosis, chromatolysis, and grumose degeneration. Fibrous glial cell proliferation was detected in the globus pallidus.
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PMID:Familial chorea and myoclonus epilepsy. 9 88

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.
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PMID:Aucte intermittent porphyria and epilepsy. 11 1

After dealing with the biochemistry of tryptophan metabolism the most important results obtained in humans are presented. Special emphasis is given to the hereditary defects of tryptophan metabolism associated with mental retardation and convulsions due to lack of pyridoxine. The author's findings demonstrate the existence of a hereditary disturbance of the tryptophan metabolism via kynurenine in a certain part of oligophrenic patients. This metabolic defect can be controlled by high doses of vitamin B6. Furthermore investigations conducted with a view to interpreting these results are discussed, especially the determination of kynureninase activity, serotonin blood levels and pyridine nucleotide synthesis.
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PMID:[Tryptophan metabolism and oligophrenia (author's transl)]. 14 46

A case of Feuerstein-Mims syndrome (naevus sebaceous, convulsions and mental retardation) is described in association with vitamin D resistant reckets.
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PMID:Feuerstein and Mims syndrome with resistant rickets. 18 80

The record of 67 cases under 15 years of age who were hospitalized during status convulsivus from 1975 to 1978, the 348 cases who visited the hospital for the first time with epilepsy (Oct. 1977 to Sept. 1978) and the 32 cases who were hospitalized during status epilepticus from 1969 to 1974 and who are being followed up as outpatients were studied. The frequency of status epilepticus was 8% among epileptic children. There was no difference in the frequency of incidence between male and female. Patients with mental retardation, however, were revealed to have status epilepticus twice to three times more frequently as compared to cases without mental retardation. The major seizure types of status epilepticus in childhood were generalized tonic clonic convulsion and unilateral clonic convulsion. In 25% of the cases, status epilepticus was the first ictal manifestation. The major cause of status convulsivus was epilepsy, followed by encephalitis and encephalopathy, but cases due to brain tumor were rare. The drug of first choice for status convulsivus is diazepam. If there is any difficulty in controlling status convulsivus with diazepam, it may be worthwhile to consider what the problem is, causes of status convulsivus, seizure type, or basic disease of the patient. The effective dose of diazepam was within the range of 0.3--0.5 mg/kg. When the effect is not sufficient, the dose of diazepam should be increased to 1 mg/kg while watching the general condition of the patient. Factors affecting the prognosis of status convulsivus were its cause, duration, onset age and effectiveness of therapy during the acute stage. The frequency of cases who suffered disability after status epilepticus was 56%. (transient disability 43%, permanent disability 13%) The most frequent type of transient disability was hemiplegia. Most epileptic children who had repetitive status convulsivus revealed psychomotor retardation before first status. Factors which cause repetitive status seem to be hemispheric brain damage or diffuse corticocentrencephalic damage.
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PMID:Therapy and prognosis of status convulsivus in childhood. 52 Sep 66

A cohort of 666 children who had convulsions with fever were followed to determine the risks of subsequent epilepsy. High risks were found in children with preexisting cerebral palsy or mental retardation. Other major risk factors were atypical features of the febrile convulsions (such as focal seizures) and duration of febrile seizures for 10 minuts or more. The risk of developing epilepsy by age 20 was about 6 percent for all children who had experienced febrile convulsions. However, this risk figure consisted of a combination of 2.5 percent of children without prior neurologic disorder or atypical or prolonged seizures, and 17 percent of those with such complications.
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PMID:The risk of epilepsy following febrile convulsions. 57 73

Cytogenetic examination of a 14-year-old severely retarded girl revealed a karyotype of 47 chromosomes with an extra bisatellited chromosome, a translocation between No. 22 and a chromosome in the D group. The girl had presented an early autistic syndrome beginning about 6 months of age during plastering for a congenital luxation of the hips and receding from the age of 5. In addition, she was hyperkinetic with various aggressive and auto-aggressive traits and had atypical minor epileptic fits. Data from child psychiatric examinations at 5 and 14 years are presented. The importance of giving parents information as early as possible about biological causes of mental retardation and mental illness is stressed.
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PMID:A case report of an autistic girl with an extra bisatellited marker chromosome. 57 14

The authors report on their experience in nearly 10 years follow-up of four families with hereditary enzymopenic methemoglobinemia. In patients a dangerous elevation of methemoglobin level was never observed, what is probably due to the information of the patients and the family doctor about the nature of the patient's constitution. All gene--carriers were practically healthy. In one family 10 children died from convulsions as newborns. Mental retardation was not present in these four families.
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PMID:[Congenital enzymopenic methemoglobinemia and its pharmacogenetic aspects]. 61 13

Motor exercise was appliced in rehabilitation of 34 epileptic children with mild degree of mental retardation. In 28 children motor performance improved considerably. The increase in frequency of epileptic fits was not observed in any of the cases.
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PMID:[Exercise therapy in the rehabilitation of epilepsy in children]. 72 30


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