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Digitale Medien

“Reducing body”-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency (1992)

Jay, V. ; Christodoulou, J. ; Mercer-Connolly, A. ; [weitere]

Springer

Acta neuropathologica 85 (1992), S. 111-115

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ISSN: 1432-0533

Schlagwort(e): Muscle ; Ultrastructure ; Lysosome ; Metabolic disorder ; Glycogenosis

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Summary Unusual inclusions with some of the features of “reducing bodies” were encountered in the skeletal muscle biopsy of a 2.5-year-old boy with childhoodonset acid maltase deficiency. The biopsy revealed a vacuolar myopathy with lysosomal storage of glycogen and eosinophilic refractile inclusions in myofibers, which appeared dark blue with the menadione-nitroblue tetrazolium reaction. The significance of the association of inclusions with reducing properties in the setting of acid maltase deficiency is discussed.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00304641

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Digitale Medien

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency (1993)

Christodoulou, J. ; Petrova-Benedict, R. ; Robinson, B. H. ; [weitere]

Springer

European journal of pediatrics 152 (1993), S. 428-432

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ISSN: 1432-1076

Schlagwort(e): Marfan ; NADH-coenzyme Q reductase ; Lactic acidosis ; Respiratory chain ; Mitochondrial myopathy

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities. The presence of persistent lactic acidosis led to studies which disclosed mitochondrial complex I deficiency. We speculate that this unusual association may be due to the combination of an inherited mutation affecting complex I activity along with a de novo mutation disrupting the corresponding locus and an adjacent NMS locus on the homologous autosome. The possibility that the phenotype observed in this patient is directly due to the mitochondrial defect cannot be excluded.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF01955904

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