1/5. A novel mutation in neonatal isolated sulphite oxidase deficiency.Isolated sulphite oxidase deficiency (ISOD) is a very rare hereditary metabolic disorder. Imaging findings of the neonatal form of ISOD, including multicystic leukoencephalopathy with brain atrophy, resemble those of severe ischemic changes of the brain. We report the case of a ten-month-old boy who exhibited neonatal seizures on the 24th day after birth. Excessive quantities of sulphite and S-sulphocysteine in the urine and normal blood uric acid were noted. These findings were consistent with those of ISOD. Point mutations were found in two alleles of the sulphite oxidase (SUOX) gene. One of the mutations was a 1029 C > G mutation, which resulted in an amino acid substitution of tyrosine to a stop code (Y343 X); and the other was a 479 G > A mutation, which resulted in an amino acid substitution of arginine to glutamine (R160 Q). Y343 X is a novel SUOX gene mutation. A review of the literature, including data from this report, showed that 3 of 6 cases had typical imaging findings characterized by initial cerebral edema followed by dramatic multicystic leukoencephalopathy. We emphasize that neonatal ISOD should be included in the differential diagnosis of neonates with unexplained hypoxic-ischemic changes on neuroimaging studies.- - - - - - - - - - ranking = 1keywords = metabolic disorder, brain (Clic here for more details about this article) |
2/5. Inborn error of amino acid synthesis: human glutamine synthetase deficiency.glutamine synthetase (GS) is ubiquitously expressed in human tissues, being involved in ammonia detoxification and interorgan nitrogen flux. Inherited systemic deficiency of glutamine based on a defect of glutamine synthetase was recently described in two newborns with an early fatal course of disease. glutamine was largely absent in their serum, urine and cerebrospinal fluid. Each of the patients had a homozygous mutation in the glutamine synthetase gene and enzymatic investigations confirmed that these mutations lead to a severely reduced glutamine synthetase activity. From the observation in the first patients with congenital glutamine synthetase deficiency, brain malformation can be expected as one of the leading signs. In addition, other organ systems are probably involved as observed in one of the index patients who suffered from severe enteropathy and necrolytic erythema of the skin. Deficiency of GS has to be added to the list of inherited metabolic disorders as a rare example of a defect in the biosynthesis of an amino acid.- - - - - - - - - - ranking = 0.99967571297657keywords = metabolic disorder, brain (Clic here for more details about this article) |
3/5. Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).The neuropathology of a 2 1/2-year-old patient with dihydropteridine reductase deficiency showed diffuse demyelination throughout white matter and spongy vacuolation in the long tracts of the brain stem. These changes are characteristic neuropathologic observations in untreated phenylketonuria. In addition, extensive neuronal loss, calcification and abnormal vascular proliferation were noted in the cerebral cortex, white matter, basal ganglia, and thalamus. Golgi studies demonstrated an abnormal orientation of neurons together with abnormalities of dendrites and dendritic spines. The pathogenesis of the vascular abnormalities in this condition is unknown, although folate deficiency may be involved. The secondary deficiency of serotonin and dopamine occurring during neuronal growth and differentiation may also affect the terminal stages of neuronal maturation.- - - - - - - - - - ranking = 0.00032428702343306keywords = brain (Clic here for more details about this article) |
4/5. Central pontine myelinolysis: a case study.Central pontine myelinolysis is a disorder affecting the myelin in the central pontine region of the brain. The disorder usually has a rapid onset which can result in death, even with the appropriate interventions. This paper presents the case of a seventy-one year old patient who developed central pontine myelinolysis and survived. The nursing challenges will be discussed as encountered in a primary nursing setting using a multidisciplinary approach.- - - - - - - - - - ranking = 0.00032428702343306keywords = brain (Clic here for more details about this article) |
5/5. central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.Developmental retardation was a prominent clinical feature in six infants from three kindreds deficient in the enzyme purine nucleoside phosphorylase (PNP) and was present before development of T cell immunodeficiency. guanosine triphosphate (GTP) depletion was noted in the erythrocytes of all surviving homozygotes and was of equivalent magnitude to that found in the lesch-nyhan syndrome (complete hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency). The similarity between the neurological complications in both disorders indicates that the two major clinical consequences of complete PNP deficiency have differing aetiologies: neurological effects resulting from deficiency of the PNP enzyme products, which are the substrates for HGPRT, leading to functional deficiency of this enzyme. immunodeficiency caused by accumulation of the PNP enzyme substrates, one of which, deoxyguanosine, is toxic to T cells. These studies show the need to consider PNP deficiency (suggested by the finding of hypouricaemia) in patients with neurological dysfunction, as well as in T cell immunodeficiency. They suggest an important role for GTP in normal central nervous system function.- - - - - - - - - - ranking = 0.0061505959122759keywords = central nervous system, nervous system (Clic here for more details about this article) |