Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of quadrigeminal cistern arachnoid cyst associated with hydrocephalus is reported. A 1-year-old girl was admitted to our service on July 31, 1984, because of mental retardation and an enlarged head. She was born of a full-term pregnancy and normal vaginal delivery without prenatal complications. Progressive increase in her head circumference was noticed at the age of 6 months by her family physician. On admission she was found to be a well-nourished infant with a head circumference of 56 cm, bulging anterior fontanelle and mental retardation. Marked dilatation of the lateral ventricles and a large cyst in the quadrigeminal cistern were demonstrated on plain CT. There were no findings of communication between the ventricular system and the cyst on metrizamide CT ventriculography. The extension of the cyst from the quadrigeminal cistern to the right cerebello-pontine angle was demonstrated on reconstructed coronal CT. Reconstructed sagittal section revealed huge hydrocephalus caused by aqueductal stenosis. A vertebral angiography demonstrated opening of the para-mesencephalic segments of the bilateral posterior cerebral arteries and downward displacement of the right superior cerebellar artery. Accordingly, a large quadrigeminal cistern arachnoid cyst with hydrocephalus caused by aqueductal stenosis was suspected. Following V-P shunt operation for hydrocephalus, right temporo-parietal craniotomy was performed. The inner wall of the lateral ventricle was thin and an expanding cyst was observed through it. A partial resection of the cyst wall with the ventricular wall was performed to obtain communication between the cyst and lateral ventricle. The content of the cyst was watery clear fluid like CSF.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of quadrigeminal cistern arachnoid cyst associated with hydrocephalus]. 322 70

The disease course and therapy of a nine-and-a-half-year-old boy with hyperphenylalaninemia due to a dihydropteridine reductase deficiency are reported. Clinically, there is a marked mental retardation and complex basal ganglion symptoms. The cranial computed tomographic investigation shows bilateral, symmetrical, comma-shaped calcifications in the globus pallidus and the putamen of the lentiform nucleus. The cause of these basal ganglion calcifications remains unclear. Lowering of serum and CSF folic acid levels could not be detected, in contrast to cases with the same enzyme defect described previously.
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PMID:Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase. 322 65

Homocarnosinosis, an inherited disorder, is characterized by an elevated level of the dipeptide homocarnosine (Hca) in the CSF and the brain and, in addition, by carnosinuria and serum carnosinase deficiency. In three children with homocarnosinosis the biochemical aberration co-exists with paraplegia, retinitis pigmentosa, and a progressive mental deficiency. In the mother, however, only the biochemical aberration was present without clinical symptoms. In order to study whether this elevated level of Hca and increased excretion of carnosine (Car) could be reduced towards normal, a dietary regiment with restriction of histidine (His) was maintained for nearly 2 1/2 years for two of the patients, 33 and 39 years old, with homocarnosinosis associated with neurological symptoms. His was reduced by about 90% in the CSF, in the plasma and in the urine. Within 5-6 months CSF Hca was reduced by about 70%, and urinary Car by 22 and 42%. The clinical neurological symptoms, however, did not alter significantly together with these biochemical changes.
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PMID:Homocarnosinosis: influence of dietary restriction of histidine. 373 69

A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months. Megaloblastic anaemia was present and profound folate deficiency was evidenced in plasma and in CSF. Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications. Loading tests with folic acid and its derivatives led to the conclusion that the folate deficiency was caused by a defect in folate transport both across the gut and the blood-brain barrier. Low plasma concentrations of methionine prompted a therapeutic trial with methionine associated with vitamin B12 and folic acid that spectacularly improved the convulsions.
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PMID:Congenital folate malabsorption. 398 28

Serum carnosinase deficiency (McKusick 21220) is a rare condition, described in 13 cases. Ten additional individuals with serum carnosinase deficiency have been identified. All continued to excrete increased amounts of carnosine in their urine despite a meat-free diet for 3 days. Serum carnosinase activity ranged from 0-30% of normal. In four individuals a normal Km for carnosine of 0.12 mM was observed, while in five individuals an increased Km was found. Homocarnosine levels in CSF in three individuals ranged from 3.4 to 15 mM. Clinical symptoms in these individuals were as follows: attention deficit disorder: 4; non progressive developmental delay: 1; neurofibromatosis: 1; absences seizures: 1; severe, but non-progressive mental retardation, seizures and neurosensory hearing loss: 1; progressive childhood dementia; 1; clinically normal: 1. There was no correlation between severity and type of the neurological symptoms and residual serum carnosinase activity. Although a definite conclusion can only be made after a considerably higher number of individuals has been analyzed, the suspicion that serum carnosinase deficiency is unrelated to the neurological symptoms is strengthened by these observations. There may, however, be an association with a predisposition for mental deficiency.
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PMID:Serum carnosinase deficiency: a non-disabling phenotype? 409 64

The cerebro-hepato-renal syndrome of Zellweger is an autosomal recessive inborn error of metabolism. Clinically the disease is characterised by craniofacial malformations, a lack of muscle tone, disturbances in liver function, renal cysts and mental retardation. The disease is characterised biochemically by the absence of peroxisomes (microbodies) in liver and kidney and variable abnormalities in mitochondria. This results in elevated concentrations of pipecolic acid and of tri(di)hydroxycoprostanoic acid in urine, CSF and/or duodenal fluid, an elevation of the concentration of very long chain (greater than C22) fatty acids in plasma and fibroblasts and a deficiency of plasmalogens in tissues, erythrocytes and fibroblasts. Moreover, we recently found that in Zellweger patients the activity of dihydroxyacetone phosphate acyltransferase is deficient in tissues, fibroblasts and cultured amniotic fluid cells and that the incorporation of a radioactive precursor of plasmalogens into phospholipids is impaired in fibroblasts and amniocytes. These recent findings allow specific prenatal and postnatal diagnosis of this disease.
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PMID:[Diagnosis of Zellweger's cerebrohepatorenal syndrome]. 652 20

We studied a patient with somatic growth failure with easy fatigability, myopathy with mitochondrial abnormality, increased lactate and pyruvate in blood and CSF, mental retardation, seizure, myoclonus, deafness, cerebellar ataxia, and blindness with macular degeneration and optic atrophy. Pathologic findings included multiple brain infarctions and massive calcification in the basal ganglia. Biochemical studies of isolated mitochondria revealed decreased oxygen consumption in skeletal muscle, diaphragm, and brain, suggesting an abnormality in the respiratory chain.
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PMID:Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions. 653 55

Argininosuccinic aciduria (ASA-uria) is a rare inborn error of the urea cycle, in which there is massive excretion of argininosuccinic acid (ASA) in the urine together with elevated concentrations of ASA in the plasma and the CSF. The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation. The present patient, the first Finnish one to be reported, was a 49-year-old woman. She was hospitalized at the age of 26 with a diagnosis schizophrenia and mental retardation. Her clinical symptoms consisted of ataxia, disturbance of coordination, clumsiness, intention treMor and a positive Romberg's sign. The laboratory findings were consistent with the mild, late-onset type of ASA-uria.
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PMID:Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. 713 86

Three unrelated children (one girl and two boys) have had since birth a syndrome characterized by a permanent skin rash which becomes more intense during flare-ups associated with fever, lymphadenopathy, splenomegaly, and arthritis symmetrically involving the large joints. In one boy, typical psoriasis was observed at age 3 years. In two patients, roentgenograms of the joints showed early patellar ossification and an abnormal epiphyseal appearance. The three children also had neurologic involvement, with mental retardation, enlarged head circumference, eye lesions, late closure of the anterior fontanel, and a chronic meningitis with infiltration by polymorphonuclear cells. No immunologic abnormalities were found, but polymorphonuclear cells infiltrated the skin, lymph nodes, synovial fluid, and CSF.
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PMID:Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. 725 69

Two series of achondroplastic patients were studied. The first series included 5 patients referred to our neurosurgical department for macrocranium and/or mental retardation. The second series was composed of 20 patients arbitrarily chosen from a medical group. Macrocranium was observed in 60% of the patients and was related to hydrocephalus in all but 2 cases. Radiological studies demonstrated that the posterior fossa was deformed and narrowed in its 3 planes, while its volume was conserved because of an abnormal ascension of the tentorium. The conflict between normal brain development and the craniostenosis at the base of the skull is responsible for an upward tilt of the petrous pyramids, a lowering of the mastoid process, and the illusion of a basilar invagination. Ventriculographies, pneumoencephalographies and isotopic transits demonstrated normal CSF circulation. The study suggests that hydrocephalus is related to the stenosis of the sigmoid sinus at the level of narrowed jugular foramina with a resulting raise in intracranial venous pressure. The majority of patients with macrocranium stabilizes spontaneously. Thus, a surgical indication should be extremely limited.
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PMID:Hydrocephalus and achondroplasia. A study of 25 observations. 743 42


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