Atypical Rett syndrome with chorea: a case report.

Erdogan, Musab;Olinger, Eric;Ferrao Santos, Susana
(2025) Acta Neurologica Belgica — Vol. 125, n° 6, p. 1705-1709 (2025)

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(en) We report the case of a female patient with Lennox-Gastaut syndrome who developed atypical athetosis and choreiform movements after the age of 30. Extensive genetic testing was performed since her childhood without any conclusive results. The movement disorder led to additional metabolic testing, excluding mitochondrial disorders (MELAS, MERRF, NARP, Leigh syndrome), Unverricht-Lundborg disease and serine biosynthesis disorders (Neu-Laxova spectrum disorders and related conditions). She was finally diagnosed with Rett syndrome (RTT) after whole exome sequencing and specific analysis of the MECP2 gene. [...]
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Erdogan, M., Olinger, E., & Ferrao Santos, S. (2025). Atypical Rett syndrome with chorea: a case report. Acta Neurologica Belgica, 125(6), 1705-1709. https://doi.org/10.1007/s13760-025-02901-0 (Original work published 2025)