Background

Fazio Londe  and Brown Vialetto Van Leare syndrome  are progressive Riboflavin dependent motor neuron diseases . Since few studies are available in literature ; we performed this study with an objective to explore the  clinical spectrum .

Methods

Retrospective chart review of all children attending our unit between August 2010 to June 2018 . All children with clinical features suggestive of Riboflavinopathies were included & simple descriptive statistics were used to analyse the data in the form of frequencies with percentages and mean .

Results

Of the ten children , 7 (70%) were males with mean age of presentation of 9.4 years . Consanguinity was present in all & positive family history in 3 (30%) . Clinical features were Respiratory compromise in 4 (40%) , Bulbar palsy in 2 (20%) , deafness in 8(80% ) , hypotonia in 5 (50%) , progressive weakness in all 4 limbs in 4 (40%) , wasting of limbs & exaggerated deep tendon reflexes in 1 (10%) , cranial nerves involved were 7-12 in all ,except that deafness was absent in 2 siblings .Currently , 7 (70%) are alive having responded to Riboflavin .5 (50%) patients had hRVFT mutations , while 3 (30%) revealed no mutations & 2 patients were not tested .

Conclusions

Clinical features of lower cranial nerve palsies with lower and upper motor neuron signs in the limbs should warrant consideration of these treatable Riboflavinopathies .