An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.

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.

• Authors: J Christodoulou, R Petrova-Benedict, B H Robinson, V Jay, J T Clarke
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 152 Issue 5 Pg. 428-32 (May 1993) ISSN: 0340-6199 [Print] Germany
• PMID: 8319712 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• NADH, NADPH Oxidoreductases
• Electron Transport Complex I

Topics

• Electron Transport Complex I
• Humans
• Infant
• Male
• Marfan Syndrome (diagnosis, enzymology, etiology, genetics)
• Mitochondria, Muscle (pathology)
• NADH, NADPH Oxidoreductases (deficiency)
• Phenotype