LETTER TO THE EDITOR
Diagnosing MERRF requires clinical and genetic evidence
 
 
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Neurological Department, Klinik Landstrasse, Messerli Institute, Vienna, Austria
 
 
Submission date: 2019-02-26
 
 
Acceptance date: 2019-03-10
 
 
Publication date: 2020-10-25
 
 
Pol J Pathol 2020;71(3):283-284
 
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ABSTRACT
The interesting case about a patients with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome due to the variant m.8344A>G with a heteroplasmy rate of 95% reported by Felczak et al. expands the phenotypic spectrum of MERRF syndrome. The authors reported a pituitary adenoma, calcium deposits in arterial walls, and an intra-cerebral lipoma in the corpus callosum in their patient. Shortcomings of the study are that the diagnostic criteria for MERRF were not accomplished, that the patient should be rather diagnosed as a mitochondrial, multiorgan disorder syndrome (MIMODS), that no pedigree and heteroplasmy rates in first degree relative were provided, that hormone levels were not provided despite obvious endocrinological involvement, and that no serum or cerebrospinal fluid (CSF) lactate levels were reported.
REFERENCES (6)
1.
Felczak P, Stêpniak I, Kowalski P, et al. Pathology of skeletal muscle fibers and small blood vessels in MERRF syndrome: an ultrastructural study. Pol J Pathol 2018; 69: 422-431.
 
2.
Finsterer J, Zarrouk-Mahjoub S, Shoffner JM. MERRF classification: implications for diagnosis and clinical trials. Pediatr Neurol 2018; 80: 8-23.
 
3.
Altmann J, Büchner B, Nadaj-Pakleza A, et al. Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry. J Neurol 2016; 263: 961-972.
 
4.
Finsterer J, Zarrouk-Mahjoub S. Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders. Neuropsychiatr Dis Treat 2017; 13: 2569-2579.
 
5.
Tzoufi M, Makis A, Chaliasos N, et al. A rare case report of simultaneous presentation of myopathy, Addison’s disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome. Eur J Pediatr 2013; 172: 557-561.
 
6.
Finsterer J, Milvay E. Stress lactate in mitochondrial myopathy under constant, unadjusted workload. Eur J Neurol 2004; 11: 811-816.
 
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ISSN:1233-9687
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