Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Journal Article (Journal Article)

One of the most promising outcomes of whole-exome sequencing (WES) is the alteration of medical management following an accurate diagnosis in patients with previously unresolved disorders. Although case reports of targeted therapies resulting from WES have been published, there are few reports with long-term follow-up that confirm a sustained therapeutic response. Following a diagnosis by WES of Brown-Vialetto-Van Laere Syndrome 2 (BVVLS2), high-dose riboflavin therapy was instituted in a 20-mo-old child. An immediate clinical response with stabilization of signs and symptoms was noted over the first 2-4 wk. Subsequent clinical follow-up over the following 8 mo demonstrates not just stabilization, but continuing and sustained improvements in all manifestations of this usually fatal condition, which generally includes worsening motor weakness, sensory ataxia, hearing, and vision impairments. This case emphasizes that early application of WES can transform patient care, enabling therapy that in addition to being lifesaving can sometimes reverse the disabling disease processes in a progressive condition.

Full Text

Duke Authors

Cited Authors

  • Shashi, V; Petrovski, S; Schoch, K; Crimian, R; Case, LE; Khalid, R; El-Dairi, MA; Jiang, Y-H; Mikati, MA; Goldstein, DB

Published Date

  • October 2015

Published In

Volume / Issue

  • 1 / 1

Start / End Page

  • a000265 -

PubMed ID

  • 27148562

Pubmed Central ID

  • PMC4850881

International Standard Serial Number (ISSN)

  • 2373-2873

Digital Object Identifier (DOI)

  • 10.1101/mcs.a000265


  • eng

Conference Location

  • United States