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Titolo:
Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction
Autore:
Castro-Gago, M; Alonso, A; Pintos-Martinez, E; Beiras-Iglesias, A; Campos, Y; Arenas, J; Novo-Rodriguez, MI; Eiris-Punal, J;
Indirizzi:
Hosp05,n Galacia, Serv Neuropediat, Dept Pediat, Santiago De Compostela 157 Hosp Gen Galacia Santiago De Compostela Spain 15705 go De Compostela 157 Hosp Gen Galacia, Pediat Radiol Serv, Santiago De Compostela 15705, Spain Hosp Gen Galacia Santiago De Compostela Spain 15705 postela 15705, Spain Hosp Gen Galacia, Serv Anat Pathol, Santiago De Compostela 15705, Spain Hosp Gen Galacia Santiago De Compostela Spain 15705 postela 15705, Spain Hosp 12 Octubre, Ctr Invest, E-28041 Madrid, Spain Hosp 12 Octubre Madrid Spain E-28041 , Ctr Invest, E-28041 Madrid, Spain
Titolo Testata:
JOURNAL OF CHILD NEUROLOGY
fascicolo: 2, volume: 14, anno: 1999,
pagine: 131 - 135
SICI:
0883-0738(199902)14:2<131:CHSAWM>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
PYRUVATE-DEHYDROGENASE DEFICIENCY; LACTIC-ACIDOSIS; EPISODES MELAS; DYSGENESIS; ACIDEMIA; MUTATION; KIDNEYS; DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Castro-Gago, M Hospompostelacia, Serv Neuropediat, Dept Pediat, Galeras S-N, Santiago De C Hosp Gen Galacia Galeras S-N Santiago De Compostela Spain15705
Citazione:
M. Castro-Gago et al., "Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction", J CHILD NEU, 14(2), 1999, pp. 131-135

Abstract

We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with hydranencephalic-hydrocephalic syndrome diagnosed by ultrasonography at gestation week 28,and who was treated during the neonatal period by implantation of a ventriculoperitoneal shunt. She showed severe mental retardation, and died at age4 years following an acute respiratory infection. Due to persistently highlactic acid levels in blood, muscle and skin biopsies were taken. Analysisof muscle biopsies revealed microscopic and ultrastructural alterations typical of mitochondrial disorders, and low levels of complexes III and IV ofthe mitochondrial respiratory chain. The enzymes of the pyruvate dehydrogenase complex showed normal activities in cultured skin fibroblasts. These findings raise the possibility that at least some cases of congenital hydranencephalic-hydrocephalic syndrome may be due to alterations in the mitochondrial respiratory chain.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 18:53:53