Fazio-Londe disease

[MIM 211 500]

(progressive bulbar paralysis of childhood)

Very rare. Dominant (rare) or recessive autosomal transmission of a mutation of the SLC52A3 (20p13) gene coding for the hRFT2 carrier of riboflavin. In the recessive forms, an early form with rapid evolution (death before 18 months of age due to respiratory failure) and a late onset form of slower evolution are observed. It results in a progressive and bilateral  paralysis of the cranial nerves with variable manifestations: ptosis, dysphagia, dysarthria, dyspnea and frequent respiratory infections. It is distinguishable from the Brown-Vialetto-Van Laere syndrome by the absence of deafness. A chronic treatment with riboflavin (vitamin B2) by mouth (30 mg/kg 3 x/day) allows to stabilize or even improve the clinical picture.


Anesthetic implications:

respiratory failure (often non-invasive ventilation or tracheotomy), disorders of swallowing, generalized muscle atrophy, scoliosis.


References :

-        Bosch AM, Stroek K, Abeling NG, Waterham HR et al.
The Brown-Vialetto-Van Laere and Fazio-Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Orphanet J Rare Diseases 2012; 7: 83.


Updated: December 2018