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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Microcephaly and considerable motor and mental retardation occurred in two non-phenylketonuric children of an untreated mother with phenylketonuria. The cerebral damage of the children must be considered the consequence of the maternal metabolic disorder. Since the first phenylketonuric children who were treated on strict diet are now reaching the age of marriage and pregnancy, the problem of maternal phenylketonuria is becoming topical. Published reports indicate that of 72 well documented cases with a maternal phenylalanine level above 200 mg/1 (1210 mumol/1) 39 offspring had microcephaly, in 33 intra-uterine growth had been retarded and in 25 there are cerebral palsy and seizures. Almost all had mental retardation. At the same time there have been reports about three normal children whose mothers had kept to a phenylalanine-low diet during their pregnancy.
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PMID:[Children of mothers with phenylketonuria (author's transl)]. 83 53

In a group of 90 children with phenylketonuria diagnosed and treated late the authors studied the problem of seizures. They occurred in over 50% of children, in most of them they had the character of salaam seizures (72%). They were statistically significantly more frequent in children with more severe mental retardation. In the discussion on these observations the authors stated that the data obtained by them concerning the frequency of seizures (twice as frequent as in materials reported in the literature) were based on long-term observation of these children and not on one examination and they conform better to the actual incidence of these seizures. It is supposed that the presence of seizures is a prognostically unfavourable element. It is suggested also that these children should be given anticonvulsant treatment besides dietary treatment of phenylketonuria.
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PMID:[Seizures in phenylketonuria]. 88 2

Serial EEC investigations were carried out in 30 children with phenylketonuria aged 8 months to 4 years at the time of dietary treatment. All children had seizures. The results of EEG investigations in this group of children were compared with a preciously observed analogous of 35 children without convulsions. Comparing the results of EEG investigations in both groups it was observed that in the group of children without convulsions the initial EEG tracings were mostly normal while in both groups the abnormalities were mostly of paroxysmal type. On the ground of an analysis of the EEG results of both groups of children during the whole observation period lasting 2 to 7 years no statistically significant differences were observed in the pattern of bioelectric activity of the brain in both groups. In the light of this material homogenous from the standpoint of aetiology and pathogenesis the asuthors postulated the necessity of verification of the presently accepted principles of diagnosis and classification of infantile convulsions based on diagnostic and prognostic significance of EEG investigations.
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PMID:[Convulsions in phenylketonuria and the pattern of the bioelectric activity of the brain]. 89 76

Two infant siblings with modest elevations of serum phenylalanine concentrations had seizures and developmental regression: they died in their second year. Dihydropteridine reductase activity, which can be measured in normal cultured skin fibroblasts, was measured in the younger sibling and was absent. Parents of the two siblings and parents of a previously reported patient all showed 50% or less of the normal dihydropteridine reductase activity in their cultured fibroblasts. Dihydropteridine reductase activity is also present in normal cultured amniotic fluid cells, offering the possibility of prenatal diagnosis. Absence of dihydropteridine reductase results not only in a defect in the conversion of phenylalaning to tyrosine, but also in the biosynthesis of the neurotransmitters, dopamine, norephinephrine, and serotonin. Since deficiencies in these neurotransmitters would not be alleviated by a phenylalanine-restricted diet, it is important to establish the nature of the enzymatic defect in all suspected variants of phenylketonuria.
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PMID:Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. 97 23

This report describes the morphological changes observed in the brain of an untreated 27-year-old man with phenylketonuria, cortical blindness, and seizures. Golgi-Kopsch silver, cresyl violet, and hematoxylin and eosin stains were used to study cell structure and organization of the cerebellum, the lateral geniculate nuclei, the visual cortex, frontal cortex, and hippocampus. Extensive neuronal losses occurred in the right lateral geniculate nucleus (LGN), the visual cortex, and hippocampus. The left LGN, cerebellum, and frontal cortex retained neuronal components; there was a reduction in the number of dendritic processes on the Purkinje cells of the PKU subject. The loss of neurons in the LGN and occipital cortex is related to the blindness and the neuronal loss in the hippocampus is related to seizure activity.
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PMID:Golgi-Kopsch silver study of the brain of a patient with untreated phenylketonuria, seizures, and cortical blindness. 144 85

Screening newborns for phenylketonuria (PKU) is a mandatory practice based on measuring a raised blood phenylalanine level. Many factors influence the rate of blood phenylalanine rise so that there are many pitfalls in detecting the 1:10,000 affected infant. About one percent of all babies tested proves to be "false positives." Two-thirds of those with persistent hyperphenylalaninemia prove to have classic PKU. Non-classic PKU with less intense, persistent hyperphenylalaninemia is due to different alterations in the enzyme, phenylalanine hydroxylase. Additionally, about one percent of the confirmed positive patients is due to either a defect in the synthesis or regeneration of the cofactor, tetrahydrobiopterin; these latter forms are not amenable to treatment with the low phenylalanine diet. Screening programs have developed directives regarding the timing and conditions for obtaining the specimens for testing. Specific confirmatory tests of those with positive results must be performed. Even so, about one in 70 affected babies is "missed," resulting in mental retardation, seizures, and neurologic deficits.
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PMID:Phenylketonuria: contemporary screening and diagnosis. 207 89

Rett's syndrome, first described in Austria in 1966 by Dr. Andreas Rett, became known as such in 1983 when Dr. Bengt Hagberg in Sweden realized that he and his colleagues from France and Portugal were not the first to recognize this disorder. In Sweden the syndrome was found to occur in at least 1 per 15,000 female births by 1985, about twice that of phenylketonuria (PKU) in the same area. The syndrome is limited to girls and involves atrophy of the brain with loss of previously learned cognitive and motor skills after eighteen months of age. Although there are variations in the numerous clinical features, most girls develop seizures, muscle wasting, contractures, severe weight loss and bizarre behaviors. All races are affected and four clinical stages have been established. Nurses are more likely to become involved during the final stage of this disorder when families can no longer cope without professional intervention. A case study of a 9 year-old girl is presented.
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PMID:Rett's syndrome: a case study. 214 34

Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. The syndrome has incidence similar to that of phenylketonuria and autism in females. It has been widely recognised only since 1983. After six months of age head growth decelerates associated eventually with severe dementia, and autism, apraxia, stereotypic "hand washing" movements and loss of previously acquired skills occurs. Supportive symptoms may include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. Occurrence indicates sporadic new mutations as a cause. The case histories of two patients diagnosed in New Zealand are described.
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PMID:Rett syndrome: case reports and review. 218 54

Two male term babies were born at Mackay Memorial Hospital; both were born without incident. Newborn screenings (including phenylketonuria, homocystinuria, galactosemia, congenital hypothyroidism and G-6-PD deficiency) were performed at the age of three days and judged to be normal. In the later neonatal period, case 1 gradually developed prolonged jaundice, poor feeding and poor weight gain. The rechecked thyroid stimulating hormone (TSH) level was 276.3 mU/l. Case 2 was admitted with seizures; the TSH level, rechecked by chance, showing 11.6 mU/l. Under the suspicion of congenital hypothyroidism, serum confirmation tests were performed and showed TSH 393.6 mU/l, 37.09 mU/l and T4 2.87 micrograms/dl, 4.59 micrograms/dl, respectively. The diagnosis was, thus, congenital hypothyroidism with delayed rise in TSH level. The conclusion is that, regardless of the result of newborn screening, a serum confirmation test (T4 & TSH level) should be done in any infant who is suspected to have congenital hypothyroidism.
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PMID:[Congenital hypothyroidism missed on newborn screening: report of two cases]. 226 Apr 71

A 28-year-old man with classical phenylketonuria had increased seizure frequency and rapidly progressive spasticity. There was a marked reduction of biogenic amine neurotransmitter metabolites in cerebrospinal fluid. Dietary therapy reduced serum phenylalanine levels, improved symptoms of hypertonicity, and cerebrospinal fluid neurotransmitter metabolites became normal. An adolescent male with classical phenylketonuria, treated by dietary restriction until age 6 years, was assessed for decreasing school performance at 18 years. Cerebrospinal fluid biogenic amine neurotransmitter metabolites were significantly reduced. Magnetic resonance imaging in both subjects showed multiple areas of increased signal intensity in cerebral white matter. Neuropathological changes in classical phenylketonuria have been characterized as a dysmyelinating or demyelinating process. Neurochemical studies show a defect in brain lipids and biogenic amine metabolism. In the past, dietary therapy was directed at reducing hyperphenylalaninaemia only during the first decade of life. This report, as well as other studies, indicates that dietary therapy should be lifelong in patients with classical phenylketonuria, in order to prevent progressive and insidious neurological deterioration in later life.
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PMID:Neurological deterioration in adult phenylketonuria. 251 76


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