[MIM 211 500, 211 530, 614 707]

Very rare prevalence: < 1.106. Autosomal recessive transmission of a mutation of the SLC52A2 (8 q), SLC52A3 (20p13) or SLC52A1 genes coding for the hRFT2, hRFT3 or hRFT1 carrier of riboflavin. Association of ponto-bulbar paralysis (nerves VII to XII) and progressive sensory deafness. Male/female ratio of 1 | 3. Onset between childhood and third decade.

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 tracheostomy),  swallowing disorders, generalized muscle atrophy, scoliosis.

References : 

-        Fell D.
Anesthesia in Brown-Vialetto-Van Laere syndrome.
Pediatr Anesth 2009; 19: 1130-1.

-        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.

-        Bamaga AK, Maamari RN, Culican SM, Shinawi M, Golumbeck PT.
Child neurology: Brown-Vialetto-Van Laere-syndrome: dramatic visual recovery after delayed riboflavin therapy.
Neurology 2018; 91: 938-41.

Updated: December 2018