Treatable neurodegenerative disorder: Cerebral folate transport deficiency & #8211; & #8211;two children from Southern India

In conclusion, cerebral folate transport deficiency should be suspected in every child with global developmental delay, epilepsy, ataxia and neuroimaging showing cerebellar atrophy and calcification. Response to folinic acid supplementation is partial if diagnosed late and treatment initiation is delayed.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research