Fazio Londe Syndrome is a rare neurological disorder presenting with progressive bulbar palsy with respiratory failure. Initially considered to have an unrelenting course, is now found to be due to mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter in some children. We report an 11-year-old child with features of Fazio Londe syndrome who presented to our Institute with respiratory failure.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350224 | PMC |
| http://dx.doi.org/10.4103/0972-2327.144283 | DOI Listing |
Publication Analysis
Top Keywords
fazio londe
12
londe syndrome
12
respiratory failure
8
syndrome treatable
4
treatable disorder
4
disorder fazio
4
syndrome rare
4
rare neurological
4
neurological disorder
4
disorder presenting
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!