Leucodystrophie métachromatique de l'enfant à révélation inhabituelle

Metachromatic leukodystrophy is a rare metabolic disease characterized by an accumulation of sulfated glycolipids in lysosomes causing a progressive demyelination of the peripheral and central nervous system. Peripheral neuropathies are a classic sign, but are seldom inaugural. We report a case of a 2-year-6-month-old child with an uneventful medical history admitted for assessment of isolated demyelinating peripheral neuropathy confirmed at electroneuromyography. Outcome was marked by central nervous system involvement. The brain MRI showed diffuse bilateral and symmetrical demyelination. The diagnosis of metachromatic leukodystrophy was discussed. Deficiency of arylsulfatase A and accumulation of sulfatides in urine confirmed this diagnosis. Early diagnosis of metachromatic leukodystrophy has therapeutic implications particularly for genetic counseling.