Abstract
We report a case of mild cavitating leukoencephalopathy associated with a homozygous c.755A > G (p.Asp252Gly) NDUFS1 mutation in a 7-year old boy. Biochemical analysis confirmed an isolated reduction in complex I activity. Magnetic resonance imaging of the brain showed a diffuse cystic leukoencephalopathy with the involvement of the corpus callosum and sparing of the gray matter. The clinical course was marked by an acute presentation of neurological deficits at 24 months followed by recurrent episodes of mild neurological deterioration, subsequent remissions, and prolonged periods of stability. This is one of the mildest known clinical presentations of complex I deficiency secondary to mutations in NDUFS1, expanding the clinical spectrum and natural history of this disorder. Consideration of clinical variability needs to be taken into account in patient management and family counseling.
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Acknowledgments
The authors wish to thank the patient and his family. Dr. Bernard has received a Research Scholar Junior 1 of the Fonds de Recherche du Québec en Santé (FRQS). She wishes to thank the Foundation du Grand Défi Pierre Lavoie for financing this research project. Dr. Thiffault received a scholarship from the RMGA (Réseau de Médecine Génétique Appliquée du FRQS). We would also like to thank the Genome Quebec Innovation Centre and McGill University for their services.
The hospital review board has approved the use of human subject for this study. Ethic approval number is 11-105-PED.
This study complies with the current laws of Canada.
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The authors declare that they have no conflict of interest.
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Kashani, A., Thiffault, I., Dilenge, ME. et al. A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. Neurogenetics 15, 161–164 (2014). https://doi.org/10.1007/s10048-014-0412-2
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DOI: https://doi.org/10.1007/s10048-014-0412-2