The Missense Mutation In ARSA Gene Causes The Juvenile Form Of MLD

Background: Metachromatic leukodystrophy (MLD; MIM 250100), is one of the rare lysosomal storage diseases that is due to autosomal recessive inheritance and that causes the deficiency of arylsulfatase A (ARSA) leading to accumulation of sulfatides. The Metachromatic leukodystrophy is caracterizied by the severe neurodegenerative impairment. Case presentation: In this study, we provide a case report of an 6-year-girel Tunisia who presented with low level of ARSA activity, the difficulty in walking, distability of sitting, eating and swallowing. Furthermore she had epileptic seizures, optic atrophy and spasticity.Her genetic testing showed a homozygous missense mutation p.R311Q, in the ARSA gen e. Brain magnetic resonance imaging reveals a T1 hypointensity and diffuse T2 and FLAIR hyperintensity signal in the periventricular white matter with preservation of subcortical fibers, consistent with a demyelinating disease.