Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.
Published
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
- 27148562
International Standard Serial Number (ISSN)
- 2373-2873
Digital Object Identifier (DOI)
- 10.1101/mcs.a000265
Language
- eng
Conference Location
- United States