Dropped Head Syndrom als Folge einer behandelbaren metabolischen Myopathie

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.

• Literatur

• 1 Lange DJ. FM Lovelace RE. et al. The floppy head syndrome [Abstract]. Ann Neurol 1986; 20: 133
• 2 Katz JS, Wolfe GI, Burns DK. et al. Isolated neck extensor myopathy: a common cause of dropped head syndrome. Neurology 1996; 46: 917-921
• 3 Askmark H, Eeg-Olofsson K, Johansson A. et al. Parkinsonism and neck extensor myopathy: a new syndrome or coincidental findings?. Archives of neurology 2001; 58: 232-237
• 4 Savica R, Kumar N, Ahlskog JE. et al. Parkinsonism and dropped head: dystonia, myopathy or both?. Parkinsonism & related disorders 2012; 18: 30-34
• 5 Garcin B, Lenglet T, Dubourg O. et al. Dropped head syndrome as a presenting sign of scleromyositis. Journal of the neurological sciences 2010; 292: 101-103
• 6 Rosato E, Rossi C, Salsano F. Dropped head syndrome and Systemic sclerosis. Joint Bone Spine 2009; 76: 301-303
• 7 Kastrup A, Gdynia HJ, Nagele T. et al. Dropped-head syndrome due to steroid responsive focal myositis: a case report and review of the literature. Journal of the neurological sciences 2008; 267: 162-165
• 8 Muller-Felber W, Horvath R, Gempel K. et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscular disorders: NMD 2007; 17: 698-706
• 9 Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Archives of neurology 2005; 62: 37-41
• 10 Behin A, Acquaviva-Bourdain C, Souvannanorath S. et al. Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease. Revue neurologique 2016; 172: 231-241
• 11 Wen B, Dai T, Li W. et al. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. Journal of neurology, neurosurgery, and psychiatry 2010; 81: 231-236
• 12 Liang WC, Ohkuma A, Hayashi YK. et al. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscular disorders: NMD 2009; 19: 212-216
• 13 Gempel K, Topaloglu H, Talim B. et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain: a journal of neurology 2007; 130: 2037-2044