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Klinische Neurophysiologie 2017; 48(02): 102-106
DOI: 10.1055/s-0043-107738
Der besondere Fall
© Georg Thieme Verlag KG Stuttgart · New York

Dropped Head Syndrom als Folge einer behandelbaren metabolischen Myopathie

Dropped Head Syndrome Caused by a Treatable Metabolic Myopathy
Bertold Schrank
1   DKD Helios Klinik Wiesbaden
,
Harald von Pein
2   Institut für Neuropathologie, Universitätsmedizin Mainz
,
Clemens Sommer
2   Institut für Neuropathologie, Universitätsmedizin Mainz
,
Dorothea Haas
3   Zentrum Kinder- und Jugendmedizin, Dietmar-Hopp Stoffwechselzentrum, Universitätsklinikum Heidelberg,
,
Konstanze Hörtnagel
4   CeGaT GmbH und Praxis für Humangenetik Tübingen
,
Saskia Biskup
4   CeGaT GmbH und Praxis für Humangenetik Tübingen
› Author Affiliations
Further Information

Publication History

Publication Date:
30 June 2017 (online)

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Warum dieser Fall?

Wir berichten über den ungewöhnlichen Fall einer metabolischen Myopathie, die sich mit einem Dropped Head Syndrom (DHS) mit myographischen und bildgebenden Veränderungen vereinbar mit einer fokalen inflammatorischen Myopathie erstmanifestierte. Der Fall zeigt, dass die gezielte Biopsie auch schwerer zugänglicher Muskeln entscheidend sein kann zur korrekten Diagnose.

 

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