Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report
| Autor: | Mark Busby, Jeremy Cosgrove, Sayan Datta |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
medicine.medical_specialty Pediatrics Heterozygote Neuromuscular disease Hearing Loss Sensorineural Bulbar Palsy Progressive Riboflavin Ocular Motility Disorders Brown–Vialetto–Van Laere syndrome Internal medicine medicine Humans Age of Onset Bulbar palsy business.industry Membrane Transport Proteins Heterozygote advantage General Medicine Opsoclonus medicine.disease Endocrinology Mutation Surgery Female Neurology (clinical) Age of onset medicine.symptom business |
| Zdroj: | Clinical neurology and neurosurgery. 128 |
| ISSN: | 1872-6968 |
| Popis: | Brown–Vialetto–Van Laere (BVVL) is a rare neurodegenerative isorder caused by mutations in the human intestinal riboflavin ransporter genes, leading to riboflavin deficiency. It is characerised by bulbar palsy, respiratory insufficiency and sensorineural eafness. Some cases of BVVL have been successfully treated with iboflavin supplementation. Although BVVL is most commonly iagnosed in children it may also present in adults. We describe case of BVVL in a 27-year-old female. |
| Databáze: | OpenAIRE |
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