Neurol. praxi. 2014;15(2):102-104
Kearns-Sayre syndrome
- 1 Neurologická klinika, Fakulta zdravotnických studií, Univerzita Pardubice
- 2 Ústav patologie a molekulární medicíny, 2. lékařská fakulta, Univerzita Karlova v Praze
An adult woman developed ptosis with a progredient asymmetric ophthalmoplegia. Muscle weakness and fatigue followed later. In differential diagnostics there was necessary to discern neuromuscular transmission disorder, endocrinopathology, neuropathy or brainstem syndromes. Electromyography disclosed mild myogenic lesion. Changes characterizing a mitochondrial disorder were found in muscle biopsy. Deletions of mitochondrial DNA were detected and Kearns-Sayre syndrome was diagnosed.
Keywords: mitochondrial disorder, oxidative phosphorylation, muscle biopsy, mitochondrial DNA, myopathy, Kearns-Sayre syndrom
Published: May 10, 2014 Show citation
References
- Amato AA, Russel JA. Neuromuscular disorders. New York: McGraw Hill Medical, 2007.
- Bednařík J, a kol. Nemoci kosterního svalstva. Triton Praha, 2001.
- Bertorini TE. Neuromuscular case studies. Butterworth Heinemann Elsevier Philadelphia, 2008.
- Chinnery PF, Shoubridge EA. Mitochondrial myopathies. In: Karpati G, Hilton-Jones D, Bushby K, Griggs RC (eds). Disorders of voluntary muscle. Cambridge University Press Cambridge, 2010: 363-389.
Go to original source... - Mancuso M, Piazza S, Volpi L, Orsucci D, Calsolar V, et al. Nerve and musle involvement in mitochondrial disorders: an electrophysiological study. Neurol Sci 2011; 13(6): 121-124.
- Munnich A. Poruchy respiračního řetězce. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH (eds). Diagnostika a léčba dědičných metabolických poruch. 4. vydání, Triton Praha: 233-246.
- Souček O, Ješina P, Zeman J, Elleder M, Hůková H, Lukáš Z. Histopatologická diagnostika mitochondriálních mypatií - indikace a přínos svalové biopsie. Ces Slov Neurol N 2011; 74(4): 428-436.
- Zeviari M, Di Donato S. Mitochondrial disorders. Brain 2004; 127(1): 2153-2172. Go to original source...
Go to PubMed...