title: Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.
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.
authors.affiliation: 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;
authors.forename: Slavé
authors.initials: S
authors.lastname: Petrovski
authors.affiliation: Department of Pediatrics, Division of Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA;
authors.forename: Vandana
authors.initials: V
authors.lastname: Shashi
authors.affiliation: Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria 3052, Australia;
authors.forename: Steven
authors.initials: S
authors.lastname: Petrou
authors.affiliation: Department of Pediatrics, Division of Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA;
authors.forename: Kelly
authors.initials: K
authors.lastname: Schoch
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;
authors.forename: Keisha Melodi
authors.initials: KM
authors.lastname: McSweeney
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;
authors.forename: Ryan S
authors.initials: RS
authors.lastname: Dhindsa
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;
authors.forename: Brian
authors.initials: B
authors.lastname: Krueger
authors.affiliation: Department of Pediatrics, Division of Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA;
authors.forename: Rebecca
authors.initials: R
authors.lastname: Crimian
authors.affiliation: Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA;
authors.forename: Laura E
authors.initials: LE
authors.lastname: Case
authors.affiliation: Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
authors.forename: Roha
authors.initials: R
authors.lastname: Khalid
authors.affiliation: Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
authors.forename: Maysantoine A
authors.initials: MA
authors.lastname: El-Dairi
authors.affiliation: Department of Pediatrics, Division of Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA;; Department of Neurobiology, Duke University, Durham, North Carolina 27710, USA.
authors.forename: Yong-Hui
authors.initials: YH
authors.lastname: Jiang
authors.affiliation: Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
authors.forename: Mohamad A
authors.initials: MA
authors.lastname: Mikati
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;
authors.forename: David B
authors.initials: DB
authors.lastname: Goldstein
keywords: drooling; gait imbalance; neck muscle weakness; neurodegeneration; seesaw nystagmus; upper motor neuron abnormality