Atypical Rett syndrome with chorea: a case report
- 02.10.2025
- Correspondence
- Verfasst von
- M. Erdogan
- E. Olinger
- S. Ferrao Santos
- Erschienen in
- Acta Neurologica Belgica | Ausgabe 6/2025
Auszug
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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- Titel
- Atypical Rett syndrome with chorea: a case report
- Verfasst von
-
M. Erdogan
E. Olinger
S. Ferrao Santos
- Publikationsdatum
- 02.10.2025
- Verlag
- Springer International Publishing
- Erschienen in
-
Acta Neurologica Belgica / Ausgabe 6/2025
Print ISSN: 0300-9009
Elektronische ISSN: 2240-2993 - DOI
- https://doi.org/10.1007/s13760-025-02901-0
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