Frühdiagnose der Chorea-Akanthozytose: orofaziale Dyskinesien, epileptische Anfälle und HyperCKämie

Zusammenfassung

Die Chorea-Akanthozytose ist eine seltene neurodegenerative Erkrankung, deren Diagnose in der Frühphase eine klinische Herausforderung darstellt. Bei Auftreten der Trias orofaziale Dyskinesien, epileptische Anfälle und HyperCKämie sollte frühzeitig der Verdacht auf ein Neuroakanthozytose-Syndrom gestellt werden. Nach Ausschluss von Differenzialdiagnosen wird die Diagnose durch Nachweis einer Chorein-Defizienz oder molekulargenetisch (VPS13A-Mutation) gesichert.

Abstract

Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency or through molecular genetics (VPS13A mutation).

Schlüsselwörter

Neuroakanthozytose-Syndrome - Chorea-Akanthozytose - orofaziale Dyskinesien - epileptische Anfälle - HyperCKämie

Key words

neuroacanthocytosis syndromes - chorea-acanthocytosis - orofacial dyskinesia - epileptic seizure - hyperCKemia

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