Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

被引：16

作者：

Harpey, JP ^{[1
]}

Heron, D

Prudent, M

Charpentier, C

Rustin, P

Ponsot, G

Cormier-Daire, V

机构：

[1] Hop La Pitie Salpetriere, Clin Pediat Genet Med, F-75651 Paris 13, France

[2] Hop Necker Enfants Malad, Biochim Lab, Paris, France

[3] Hop Necker Enfants Malad, INSERM, U393, Paris, France

[4] Hop St Vincent de Paul, Serv Neuropediat, F-75674 Paris, France

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1998年 / 21卷 / 07期

关键词：

D O I：

10.1023/A:1005497116398

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 25-month-old boy, born to consanguineous parents, had progressive spastic tetraplegia, and increased signal of the white matter on cerebral T2-weighted magnetic resonance imaging indicative of diffuse leukodystrophy. Elevated blood and cerebrospinal fluid lactate levels pointed to a respiratory chain defect. Cytochrome-e oxidase deficiency was demonstrated in cultured skin fibroblasts and skeletal muscle. This report extends the phenotype of COX deficiency in infancy. Systematic study of blood and CSF lactate should be carried out in every infant with leukodystrophy.

引用

页码：748 / 752

页数：5

共 9 条

[1] THE INHERITED LEUKODYSTROPHIES - A CLINICAL OVERVIEW [J].

AICARDI, J .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (04) :733-743

[2] DEFICIENCY IN COMPLEX-II OF THE RESPIRATORY-CHAIN, PRESENTING AS A LEUKODYSTROPHY IN 2 SISTERS WITH LEIGH SYNDROME [J].

BOURGEOIS, M ;

GOUTIERES, F ;

CHRETIEN, D ;

RUSTIN, P ;

MUNNICH, A ;

AICARDI, J .

BRAIN & DEVELOPMENT, 1992, 14 (06) :404-408

[3] MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY OCCURRING IN PREGNANCY AND CAUSED BY A DEFECT IN RIBOFLAVIN METABOLISM IN THE MOTHER - STUDY OF A KINDRED WITH 7 DEATHS IN INFANCY - VALUE OF RIBOFLAVIN THERAPY IN PREVENTING THIS SYNDROME [J].

HARPEY, JP ;

CHARPENTIER, C ;

GOODMAN, SI ;

DARBOIS, Y ;

LEFEBVRE, G ;

SEBBAH, J .

JOURNAL OF PEDIATRICS, 1983, 103 (03) :394-398

[4] PEARSON SYNDROME - ALTERED TRICARBOXYLIC-ACID AND UREA-CYCLE METABOLITES, ADRENAL INSUFFICIENCY AND CORNEAL OPACITIES [J].

RIBES, A ;

RIUDOR, E ;

VALCAREL, R ;

SALVA, A ;

CASTELLO, F ;

MURILLO, S ;

DOMINGUEZ, C ;

ROTIG, A ;

JAKOBS, C .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (03) :537-540

[5] Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism [J].

Ruitenbeek, W ;

Wendel, U ;

Hamel, BCJ ;

Trijbels, JMF .

JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (04) :581-587

[6] BIOCHEMICAL AND MOLECULAR INVESTIGATIONS IN RESPIRATORY-CHAIN DEFICIENCIES [J].

RUSTIN, P ;

CHRETIEN, D ;

BOURGERON, T ;

GERARD, B ;

ROTIG, A ;

SAUDUBRAY, JM ;

MUNNICH, A .

CLINICA CHIMICA ACTA, 1994, 228 (01) :35-51

[7]

SHOFFNER JM, 1995, METABOLIC MOL BASES, P1535

[8] Magnetic resonance imaging in lactic acidosis [J].

vanderKnaap, MS ;

Jakobs, C ;

Valk, J .

JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (04) :535-547

[9] DEFICIENCY IN COMPLEX-IV (CYTOCHROME-C-OXIDASE) OF THE RESPIRATORY-CHAIN, PRESENTING AS A LEUKODYSTROPHY IN 2 SIBLINGS WITH LEIGH-SYNDROME [J].

ZAFEIRIOU, DI ;

KOLETZKO, B ;

MUELLERFELBER, W ;

PAETZKE, I ;

KUEFFER, G ;

JENSEN, M .

BRAIN & DEVELOPMENT, 1995, 17 (02) :117-121

← 1 →