Abstract
Background: Leukodystrophies are inherited heterogeneous diseases that are predominantly characterized by degenerative changes in the white matter of the central nervous system. These disorders begin both in childhood and in adulthood and have a complex phenotype that includes involuntary movements specifically chorea.
Methods: This paper describes two female patients for whom generalized chorea was the primary clinical manifestation of leukodystrophy. Literature search was done through PubMed database with aim to included articles that described case reports of patients (both adult and childhood-onset) with leukodystrophy presenting with chorea in patients with metachromatic leukodystrophy (MLD) or L-2-hydroxiglutaric aciduria (L2HGA).
Results: The first case presents MLD with adult-onset chorea combined with cognitive-behavioral changes mimicking Huntington’s disease, while the second case is caused by L2HGA and the diagnosis had been established in the adulthood. The search resulted in 163 articles, but only one in the end described phenotype suggestive of dyskinetic movement disorder.
Discussion: Leukodystrophies, though primarily white matter disorders, can present with involuntary movements. Our cases with MLD and L2HGA highlight adult patients with chorea as a key manifestations, so metabolic and genetic testing is crucial in unexplained chorea.
Highlights
Leukodystrophies cause white matter degeneration and involuntary movements. We present two cases: one with MLD mimicking Huntington’s disease and one with L2HGA diagnosed in the adulthood. These clinical manifestations have not yet been precisely reported in the literature. This manuscript present rare adult-onset chorea in leukodystrophies and expands phenotypic diversity.