Childhood onset neuronopathies are a clinically heterogeneous group of disorders. Its original description is known as Brown-Vialetto-Van Laere syndrome and characterized by motor neuronopathy with early onset of bulbar palsy, hearing loss and respiratory failure. Sensorimotor neuronopathy was described later. No treatment was available for this neurodegenerative disorder until recent discovery of riboflavin transporters RFVT3 and RFVT2. We report a case of early childhood onset of RFVT2 related disorder due to compound heterozygous mutation p.S52F and p.L339P in the SLC52A2 gene presenting as a pure sensory ataxia associated with sensorineural hearing loss, respiratory dysfunction, optic atrophy and retinitis pigmentosa.

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