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Title: Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.
Austin Authors: Shashi, Vandana;Petrovski, Slavé;Schoch, Kelly;Crimian, Rebecca;Case, Laura E;Khalid, Roha;El-Dairi, Maysantoine A;Jiang, Yong-Hui;Mikati, Mohamad A;Goldstein, David B
Affiliation: Department of Neurobiology, Duke University, Durham, North Carolina 27710, USA
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Pediatrics, Division of Medical Genetics Duke University School of Medicine, Durham, North Carolina 27710, USA
Department of Medicine, The University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria, Australia
Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina 27710, USA
Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27710, USA
Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA
Issue Date: Oct-2015
Publication information: Cold Spring Harbor molecular case studies 2015; 1(1): a000265
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.
DOI: 10.1101/mcs.a000265
ORCID: 0000-0002-1527-961X
PubMed URL: 27148562
ISSN: 2373-2873
Type: Journal Article
Subjects: drooling
gait imbalance
seesaw nystagmus
upper motor neuron abnormality
Appears in Collections:Journal articles

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