Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy.

ABSTRACT: Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive disorder of lipid metabolism characterized by deficiency of arylsulfatase A (ARSA), which leads to an accumulation of sulfatides in central and peripheral nerve system and eventually to progressive demyelination. The adult form of MLD may be misinterpreted as a psychiatric disease, since behavioral signs may precede intellectual decline. Here we report the case of a 53-year-old woman initially admitted to a psychiatric ward with symptoms of depression. The behavioral changes were initially attributed to psychosocial stressors within the family, particularly long-term emotional abuse by the patient's former partner. However, detailed anamnesis with the patient's mother revealed progressive behavioral and cognitive decline, ur

SUBMITTER: Metelmann M 

PROVIDER: S-EPMC12643705 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature