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Ann Indian Acad Neurol. 2015 Jan-Mar;18(1):87-9. doi: 10.4103/0972-2327.144283.

Fazio Londe syndrome: A treatable disorder.

Author information

1
Department of Pediatrics, Government Raja Mirasdar Hospital, Thanjavur Medical College, Thanjavur, India.
2
Department of Pediatrics, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.
3
Department of Neurology, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.

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.

KEYWORDS:

Fazio Londe disease; hereditary motor neuronopathy; spinal muscular atrophy

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