ISSN:
1432-1076
Keywords:
Marfan
;
NADH-coenzyme Q reductase
;
Lactic acidosis
;
Respiratory chain
;
Mitochondrial myopathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01955904
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