Pathology of skeletal muscle fibers and small blood vessels in MERRF syndrome: an ultrastructural study

Felczak, Paulina; Stępniak, Iwona; Kowalski, Paweł; Stępień, Tomasz; Wierzba-Bobrowicz, Teresa

doi:10.5114/pjp.2018.80904

Cited by 3 publications

(5 citation statements)

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“…Another investigation tool is connected with histopathological changes observed in various inborn errors of metabolism. Morphological abnormalities such as intracellular or extracellular deposits, macro- and microvasculopathy or mitochondrial damage could explain the possible pathogenetic mechanisms (laboratory test abnormalities and histopathological changes in Table 1 , Table 2 , Table 3 , Table 4 and Table 5 ) [ 104 , 105 , 106 , 107 , 108 , 109 , 110 , 111 , 112 , 113 , 114 , 115 , 116 , 117 ].…”

Section: Discussionmentioning

confidence: 99%

Stroke-like Episodes in Inherited Neurometabolic Disorders

2022

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Stroke-like episodes (SLEs) are significant clinical manifestations of metabolic disorders affecting the central nervous system. Morphological equivalents presented in neuroimaging procedures are described as stroke-like lesions (SLLs). It is crucial to distinguish SLEs from cerebral infarction or intracerebral hemorrhage, mainly due to the variety in management. Another significant issue to underline is the meaning of the main pathogenetic hypotheses in the development of SLEs. The diagnostic process is based on the patient’s medical history, physical and neurological examination, neuroimaging techniques and laboratory and genetic testing. Implementation of treatment is generally symptomatic and includes L-arginine supplementation and adequate antiepileptic management. The main aim of the current review was to summarize the basic and actual knowledge about the occurrence of SLEs in various inherited neurometabolic disorders, discuss the possible pathomechanism of their development, underline the role of neuroimaging in the detection of SLLs and identification of the electroencephalographic patterns as well as histological abnormalities in inherited disorders of metabolism.

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Section: Discussionmentioning

confidence: 99%

Stroke-like Episodes in Inherited Neurometabolic Disorders

2022

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“…With interest we read the article by Felczak et al about the clinical and ultrastructural muscle biopsy findings in a 30 years old female with putative MERRF syndrome due to the variant m.8344A>G with a heteroplasmy rate of 95% in muscle [1]. We have the following comments and concerns.…”

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confidence: 99%

“…The patient was diagnosed with hypoprolactinemia and a microadenoma of the pituitary gland [1]. Were all endocrine abnormalities, such as hypothyroidism, short stature, hypogonadism, and hypocorticism attributable to the adenoma or was there additionally pituitary insufficiency?…”

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confidence: 99%

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Diagnosing MERRF requires clinical and genetic evidence

Finsterer¹

2020

pjp

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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.

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“…We believe that the occurrence of calcium deposits in the walls of small blood vessels in with data on the parathyroid hormone level of the patient does not authorize us, as the Author of the letter suggests, to treat these deposits as one of the manifestations of mitochondrial disease. Calcium depositions at the ultrastructural level show a specific morphology and in this form are recognized not only in mitochondrial diseases [1], but also for example in microangiopathies such as CADASIL [2] or in kidney diseases such as uremia [3].…”

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confidence: 99%