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Title: Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.
Austin Authors: Petrovski, Slavé;Shashi, Vandana;Petrou, Steven;Schoch, Kelly;McSweeney, Keisha Melodi;Dhindsa, Ryan S;Krueger, Brian;Crimian, Rebecca;Case, Laura E;Khalid, Roha;El-Dairi, Maysantoine A;Jiang, Yong-Hui;Mikati, Mohamad A;Goldstein, David B
Affiliation: Department of Medicine, The University of Melbourne, Royal Melbourne Hospital, Melbourne, 3050 Victoria, Australia
Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA
Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria 3052, Australia
Department of Pediatrics, Division of Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA
Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27710, USA
Department of Neurobiology, Duke University, Durham, North Carolina 27710, USA
Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina 27710, USA
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Issue Date: Oct-2015
Publication information: Cold Spring Harbor molecular case studies 2015; 1(1): a000257
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.
DOI: 10.1101/mcs.a000257
ORCID: 0000-0002-1527-961X
PubMed URL: 27148561
ISSN: 2373-2873
Type: Journal Article
Subjects: drooling
gait imbalance
neck muscle weakness
seesaw nystagmus
upper motor neuron abnormality
Appears in Collections:Journal articles

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