Early use of high-dose riboflavin in a case of Brown–Vialetto–Van Laere syndrome
✍ Scribed by GEETHA ANAND; NADEEM HASAN; SATHIYA JAYAPAL; ZILLA HUMA; TARIQ ALI; JEREMY HULL; EDWARD BLAIR; TONY MCSHANE; SANDEEP JAYAWANT
- Book ID
- 111131932
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 192 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0012-1622
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Brown-Vialetto-Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly an involvement of spinal motor n
We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA dehydrogenation