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Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000257. doi: 10.1101/mcs.a000257.

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

Author information

1
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;
2
Department of Pediatrics, Division of Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA;
3
Ion Channels and Disease Group, Epilepsy Division, Florey Institute of Neuroscience and Mental Health, Parkville, Victoria 3052, Australia;
4
Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA;
5
Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA;
6
Department of Pediatrics, Division of Neurology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
7
Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27710, USA;
8
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.

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.

KEYWORDS:

drooling; gait imbalance; neck muscle weakness; neurodegeneration; seesaw nystagmus; upper motor neuron abnormality

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