Abstract
Infantile neuroaxonal dystrophy is a rare, hereditary neurodegenerative disease that begins before the end of the second year of life, after an interval of normal psychomotor development caused by Biallelic mutations in the PLA2G6 gene in the most of cases. It is characterized by progressive motor and cognitive deterioration leading to a bedridden state and death before the end of the first decade. We report the case of a two and a half year patient who showed psychomotor regression with ophthalmological damage, truck hypotonia and impaired visual contact as the main neurological signs. Infantile neuroaxonal dystrophy is a rare and serious disease in children with a risk of generally fatal complications, but it remains a preventable disease thanks to genetic counselling.
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