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Fazio Londe syndrome: A treatable disorder

Poovazhagi Varadarajan1, Vimal Thayanathi2, Leema C Pauline3

  • 1Department of Pediatrics, Government Raja Mirasdar Hospital, Thanjavur Medical College, Thanjavur, India.

Annals of Indian Academy of Neurology
|March 7, 2015
PubMed

Insights

Fazio Londe Syndrome, a rare neurological disorder, is linked to SLC52A3 gene mutations affecting riboflavin transport. This case highlights respiratory failure in an 11-year-old with these features.

Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Fazio Londe Syndrome is a rare neurological disorder characterized by progressive bulbar palsy and respiratory failure.
  • Historically, it was considered to have a poor prognosis.

Observation:

  • A previously healthy 11-year-old child presented with acute respiratory failure.
  • The child exhibited clinical features consistent with Fazio Londe Syndrome.

Findings:

  • Genetic analysis revealed mutations in the SLC52A3 gene.
  • This gene encodes the intestinal riboflavin transporter (hRFT2), suggesting a link between riboflavin transport and the syndrome's pathogenesis.

Implications:

  • Identifies a genetic basis for Fazio Londe Syndrome in some cases, specifically mutations in SLC52A3.
  • Suggests potential therapeutic strategies targeting riboflavin metabolism or transport.
  • Highlights the importance of genetic testing in diagnosing rare neurological disorders with respiratory compromise.

Keywords:
Fazio Londe diseasehereditary motor neuronopathyspinal muscular atrophy

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