See original article: Shashi et al. 1 (1).

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

  1. David B. Goldstein1
  1. 1Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;
  2. 2Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, 3050 Victoria, Australia;
  3. 3Department of Pediatrics, Division of Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA;
  4. 4Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria 3052, Australia;
  5. 5Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA;
  6. 6Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
  7. 7Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
  8. 8Department of Neurobiology, Duke University, Durham, North Carolina 27710, USA
  1. Corresponding authors: dg2875{at}cumc.columbia.edu, vandana.shashi{at}duke.edu
  1. 9 These authors contributed equally to this work.

Abstract

Genetically targeted therapies for rare Mendelian conditions are improving patient outcomes. Here, we present the case of a 20-mo-old female suffering from a rapidly progressing neurological disorder. Although diagnosed initially with a possible autoimmune condition, analysis of the child's exome resulted in a diagnosis of Brown–Vialetto–Van Laere syndrome 2 (BVVLS2). This new diagnosis led to a change in the therapy plan from steroids and precautionary chemotherapy to high-dose riboflavin. Improvements were reported quickly, including in motor strength after 1 mo. In this case, the correct diagnosis and appropriate treatment would have been unlikely in the absence of exome sequencing and careful interpretation. This experience adds to a growing list of examples that emphasize the importance of early genome-wide diagnostics.

  • Received January 23, 2015.
  • Accepted April 2, 2015.

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