A Rare Case of Progressive Bulbar Palsy of Childhood

Progressive bulbar palsy of childhood are a spectrum of disorders which encompasses diseases like Fazio londe syndrome, Brown vialetto Van laere syndrome (BVVL), Nathalie syndrome, boltshauser syndrome and others. Fazio londe syndrome is commonest characterized by progressive bulbar palsy with weakness of limbs, BVVL has similar features associated with sensorineural deafness. Nathalie syndrome has additional features like cataract, cardiac conduction defects and hypogonadism. Boltshauser syndrome has SNHL and isolated vocal cord paralysis. However, none of these syndromes have facial dysmorphism. Here we present a case of childhood anterior horn cell disease with facial dysmorphism.