Fazio Londe syndrome: A treatable disorder.

Abstract:

: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.

journal_name

Ann Indian Acad Neurol

authors

Varadarajan P,Thayanathi V,Pauline LC

doi

10.4103/0972-2327.144283

subject

Has Abstract

pub_date

2015-01-01 00:00:00

pages

87-9

issue

1

eissn

0972-2327

issn

1998-3549

pii

AIAN-18-87

journal_volume

18

pub_type

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