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BMJ Case Reports Feb 2024Mitochondria are essential for human metabolic function. Over 350 genetic mutations are associated with mitochondrial diseases, which are inherited in a matrilineal...
Mitochondria are essential for human metabolic function. Over 350 genetic mutations are associated with mitochondrial diseases, which are inherited in a matrilineal fashion. In mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), defective mitochondrial function and resultant impaired cellular energy production compromise vascular perfusion in affected tissues. Early diagnostic criteria suggested the diagnosis should be considered in those under 40. However, a broader range of phenotypes are now recognised, including those that present for the first time later in life. The primary presenting feature in MELAS is a stroke-like episode invariably resulting in patients undergoing neuroradiological imaging. We present a case of a woman with a first presentation of a stroke-like episode and seizures in her 40s who was eventually diagnosed with MELAS. We detail her clinical presentation, treatment and diagnosis, emphasising the role of serial imaging in her diagnosis.
Topics: Female; Humans; Acidosis, Lactic; MELAS Syndrome; Stroke; Mitochondrial Diseases; Mitochondrial Encephalomyopathies
PubMed: 38417938
DOI: 10.1136/bcr-2023-259102 -
BMJ Case Reports Feb 2024Rare causes of stroke-like presentations can be difficult to diagnose. We report a case of a man in his 40s who first presented with stroke symptoms, but whose clinical...
Rare causes of stroke-like presentations can be difficult to diagnose. We report a case of a man in his 40s who first presented with stroke symptoms, but whose clinical course was not typical for a stroke. A detailed investigation of the patient's medical history revealed bilateral sensorineural hearing loss which prompted a wider diagnostic assessment.Furthermore, lack of vascular risk factors and a normal angiogram strengthened our suspicion of an unusual underlying condition. Raised lactic acid levels and genetic analysis confirmed a diagnosis of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Topics: Adult; Humans; Male; Acidosis, Lactic; Hearing Loss, Bilateral; Lactic Acid; MELAS Syndrome; Stroke
PubMed: 38413140
DOI: 10.1136/bcr-2023-256306 -
European Archives of... Jun 2024Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial disease that affects various systems in the body,...
BACKGROUND
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial disease that affects various systems in the body, particularly the brain, nervous system, and muscles. Among these systems, sensorineural hearing loss is a common additional symptom.
METHODS
A 42-year-old female patient with MELAS who experienced bilateral profound deafness and underwent bilateral sequential cochlear implantation (CIs). Speech recognition and subjective outcomes were evaluated.
RESULTS
Following the first CI follow-up, the patient exhibited improved speech recognition ability and decided to undergo the implantation of the second ear just two months after the initial CI surgery. The second CI also demonstrated enhanced speech recognition ability. Subjective outcomes were satisfactory for bilateral CIs.
CONCLUSIONS
MELAS patients receiving bilateral CIs can attain satisfactory post-CI speech recognition, spatial hearing, and sound qualities.
Topics: Humans; Female; Adult; MELAS Syndrome; Cochlear Implantation; Cochlear Implants; Hearing Loss, Sensorineural; Speech Perception
PubMed: 38409582
DOI: 10.1007/s00405-024-08532-0 -
Stroke Apr 2024
Topics: Humans; MELAS Syndrome; Stroke; Muscles; Cognition; Magnetic Resonance Imaging
PubMed: 38362757
DOI: 10.1161/STROKEAHA.123.045984 -
Nefrologia Dec 2023Mitochondrial diseases are a phenotype and genotype heterogeneous group of disorders that typically have a multisystemic involvement. The m.3243A>G pathogenic variant is... (Review)
Review
Mitochondrial diseases are a phenotype and genotype heterogeneous group of disorders that typically have a multisystemic involvement. The m.3243A>G pathogenic variant is the most frequent mitochondrial DNA defect, and it causes several different clinical syndromes, such as mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and the maternally inherited diabetes and deafness (MIDD) syndromes. Not frequently reported, renal involvement in these diseases is probably underestimated, yet it increases morbidity. It generally manifests as subnephrotic proteinuria and progressive deterioration of kidney function. Adult presentation of mitochondrial diseases is hard to recognize, especially in oligosymptomatic patients or those with exclusive kidney involvement. However, suspicion should always arise when family history, particularly on the maternal side, and multisystemic symptoms, most often of the central nervous system and skeletal muscles, are present. In this review we discuss the clinical diagnosis and approach of patients with renal manifestations in the context of the mtDNA m.3243A>G pathogenic variant.
Topics: Adult; Humans; DNA, Mitochondrial; MELAS Syndrome; Mitochondrial Diseases; Diabetes Mellitus, Type 2; Kidney; Hearing Loss, Sensorineural; Deafness
PubMed: 38355238
DOI: 10.1016/j.nefroe.2024.01.017 -
European Journal of Case Reports in... 2024MELAS - an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes - is a multiorgan disease caused by a mutation in mitochondrial DNA...
UNLABELLED
MELAS - an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes - is a multiorgan disease caused by a mutation in mitochondrial DNA (mtDNA). Its clinical manifestations are highly variable; mainly stroke-like episodes, seizures, recurrent headaches, or muscle weakness. However, gastrointestinal complications such as chronic intestinal pseudo-obstruction (IPO), pancreatitis, gastroparesis and hepatopathy are also common. In this report we describe a young patient with gastrointestinal complication of MELAS which led to superior mesenteric artery syndrome (SMAS). It is rare but not surprising combination and should be considered in cases with significant weight loss and resistance to symptomatic treatment. The optimal energy support is the main pillar of the treatment.
LEARNING POINTS
Gastrointestinal complications of MELAS such as chronic intestinal pseudo-obstruction, pancreatitis and gastroparesis can lead to undernutrition.Superior mesenteric artery syndrome is a rare condition but should be considered in cases with significant weight loss and resistance to symptomatic treatment.Optimal caloric intake and energy support can improve the condition of patients with MELAS.
PubMed: 38352812
DOI: 10.12890/2024_004268 -
Neuroradiology Apr 2024
Topics: Humans; MELAS Syndrome; Glutamine; Phenotype
PubMed: 38311630
DOI: 10.1007/s00234-024-03299-x -
Der Nervenarzt Feb 2024Mitochondrial diseases are complex metabolic disorders caused by genetic mutations and lead to impaired energy production in the mitochondria of cells. The clinical...
Mitochondrial diseases are complex metabolic disorders caused by genetic mutations and lead to impaired energy production in the mitochondria of cells. The clinical spectrum ranges from severe multiorgan involvement in early childhood to mild monosymptomatic courses in adulthood. The brain, heart, and skeletal muscles are particularly affected due to their high energy demands. Headaches in general and migraine in particular, occur disproportionately more frequently in patients with mitochondrial diseases. In recent years similarities in the pathomechanism of mitochondrial diseases and migraine have been investigated in numerous biochemical, genetic, and therapeutic studies. The results suggest a dysfunctional energy metabolism with demonstrable mitochondrial damage as a central aspect in the pathogenesis of migraine. These findings are valuable for a better understanding of primary headache disorders and mitochondrial diseases as well as for the optimization of diagnostic and treatment procedures and should be applied in the clinical practice.
Topics: Child, Preschool; Humans; Migraine Disorders; Brain; Headache; Mitochondrial Diseases; Mitochondria
PubMed: 38277045
DOI: 10.1007/s00115-024-01622-8 -
Expert Review of Clinical Pharmacology 2024Metformin has the potential for treating numerous diseases, but there are still many unrecognized and unreported adverse events (AEs).
BACKGROUND
Metformin has the potential for treating numerous diseases, but there are still many unrecognized and unreported adverse events (AEs).
METHODS
We selected data from the United States FDA Adverse Event Reporting System (FAERS) database from the first quarter (Q1) of 2004 to the fourth quarter (Q4) of 2022 for disproportionality analysis to assess the association between metformin and related adverse events.
RESULTS
In this study 10,500,295 case reports were collected from the FAERS database, of which 56,674 adverse events related to metformin were reported. A total of 643 preferred terms (PTs) and 27 system organ classes (SOCs) that were significant disproportionality conforming to the four algorithms simultaneously were included. The SOCs included metabolic and nutritional disorders ( = 0.00E + 00), gastrointestinal disorders ( = 0.00E + 00) and others. PT levels were screened for adverse drug reaction (ADR) signals such as acute pancreatitis ( = 0.00E + 00), melas syndrome, pemphigoid ( = 0.00E + 00), skin eruption ( = 0.00E + 00) and drug exposure during pregnancy ( = 0.00E + 00).
CONCLUSION
Most of our results were consistent with the specification, but some new signals of adverse reactions such as acute pancreatitis were not included. Therefore, further studies are needed to validate unlabeled adverse reactions and provide important support for clinical monitoring and risk identification of metformin.
Topics: Humans; United States; Metformin; Pharmacovigilance; Acute Disease; Pancreatitis; Adverse Drug Reaction Reporting Systems; United States Food and Drug Administration; Drug-Related Side Effects and Adverse Reactions
PubMed: 38269492
DOI: 10.1080/17512433.2024.2306223