21 November 2002
Med Sci Monit 2002; 8(11): CR767-773 :: ID: 4833
BACKGROUND: MELAS (mitochondrial myopathy, lactic acidosis and stroke-like episodes) is one of the most common mitochondrial encephalomyopathies. MATERIAL/METHODS: We present four children with A3243G MELAS mtDNA mutation and give a summary of clinical MELAS symptoms reported in the literature. Serum lactate elevation, mosaic pattern of COX deficit and decreased activity of complex I and IV in the muscle biopsy were found in all cases. RRFs were recognized in three out of four. RESULTS: The main features seen in all our patients were poor growth and fatigability with muscle weakness. All presented epileptic jerks of various character, some deformation features (recurrent pretibial and peritarsal edema, large swollen-looking hands and feet, hypertelorism and protruding ears) and some cutaneous lesions (atopic dermatitis, local melanoderma, asymmetric vascular dilatation). Stroke-like episodes, multihormonal hypopituitarism, sensorineural hypoacusis, pigmentary retinal degeneration, intracranial calcification, heart involvement, recurrent vomiting or abdominal pain were seen only in individual cases. The homonymous hemianopia frequently reported in the literature was not a feature of our patients. One of them suffered from nonspecific sialoadenitis never mentioned in the literature. CONCLUSIONS: Morphological, enzymatic and molecular investigations of a muscle biopsy sample should be undertaken to improve early MELAS detection in patients with any multiorgan disease associated with serum lactate elevation.
Keywords: MELAS Syndrome - diagnosis, MELAS Syndrome - genetics
15 August 2022 : EditorialEditorial: The Metabolic (Dysfunction) Associated Fatty Liver Disease (MAFLD)-Non-Alcoholic Fatty Liver Disease (NAFLD) Debate: A Forced Consensus and The Risk of a World Divide
Med Sci Monit 2022; 28:e938080
12 Aug 2022 : Clinical ResearchRisk Factors and Pathogen Spectrum in Continuous Ambulatory Peritoneal Dialysis-Associated Peritonitis: A S...
Med Sci Monit In Press; DOI: 10.12659/MSM.937112
11 Aug 2022 : Meta-AnalysisOptimal Surgical Treatment Method for Anterior Cruciate Ligament Rupture: Results from a Network Meta-Analysis
Med Sci Monit In Press; DOI: 10.12659/MSM.937118
10 Aug 2022 : Review articleProgrammed Cell Death in Diabetic Nephropathy: A Review of Apoptosis, Autophagy, and Necroptosis
Med Sci Monit In Press; DOI: 10.12659/MSM.937766
Most Viewed Current Articles
30 Dec 2021 : Clinical ResearchRetrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...
Med Sci Monit 2021; 27:e935379
13 Nov 2021 : Clinical ResearchAcceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...
Med Sci Monit 2021; 27:e932788
08 Mar 2022 : Review articleA Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...
Med Sci Monit 2022; 28:e936292