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| Infantile Neuroaxonal Dytrophye: A Case Report
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S. El Moudden, S. Chaouki, S.Abourazzak, M. Hida
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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. It is characterized by progressive motor and intellectual deterioration leading to a bedridden state and death before the end of the first decade. We report the case of a 2 and a half year patient who showed psychomotor regression with ophthalmological damage, axial 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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