Format

Send to

Choose Destination
Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000265. doi: 10.1101/mcs.a000265.

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

Author information

1
Department of Pediatrics, Division of Medical Genetics Duke University School of Medicine, Durham, North Carolina 27710, USA;
2
Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;; Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, 3050 Victoria, Australia;
3
Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA;
4
Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
5
Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
6
Department of Pediatrics, Division of Medical Genetics Duke University School of Medicine, Durham, North Carolina 27710, USA;; Department of Neurobiology, Duke University, Durham, North Carolina 27710, USA.
7
Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;

Abstract

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.

KEYWORDS:

drooling; gait imbalance; neurodegeneration; seesaw nystagmus; upper motor neuron abnormality

Supplemental Content

Full text links

Icon for HighWire Icon for PubMed Central
Loading ...
Support Center