Adult Onset Metachromatic Leukodystrophy

[摘要] Background: Metachromatic leukodystrophy (MLD) is a rare inherited demyelinating disease (prevalence 1:40,000) acquired by autosomal recessive defect, which involves nervous system and it is progressive, symmetrical with massive destruction of white matter in brain and spinal cord. MLD is caused by the mutation of arylsulfatase A (ARSA) and prosaposin (PSAP) genes. Case Report: A male patient of 28 years old presented with behavioral abnormalities, weakness of all four limbs (quadriplegia), and dementia like symptoms associated with neurocognitive impairment. Diagnosis was made by neuroimaging studies. Conclusion: Adult onset metachromatic leukodystrophy is slow to progress with gradual loss of muscle movement and mental coordination.

[学科分类] 生理学

[关键词] Brain;Dementia;Metachromatic Leukodystrophy;Neuroimaging;Quadriplegia.