Multiple Neurologic, Psychiatric, and Endocrine Complaints in a Young Woman: A Case Discussion and Review of the Clinical Features and Management of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke

Bhuvaneswar, Chaya G.; Goetz, Jared L.; Stern, Theodore A.

doi:10.4088/pcc.v10n0309

Cited by 9 publications

(6 citation statements)

References 59 publications

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“…[44][45][46] In addition to exercise intolerance, patients with mitochondrial myopathies frequently have headache, nausea, and vomiting induced by exercise and can become frankly encephalopathic. 28,35,36,47,48 We have seen a pedigree with the MELAS A3260G gene mutation where exercise-induced deafness was a characteristic feature. The symptoms of exercise intolerance are often exacerbated under conditions where a greater reliance on mitochondrial energy function is needed, such as when individuals have a superimposed infection or are in the fasted state.…”

Section: Clinical Presentationmentioning

confidence: 98%

Metabolic Myopathies: Update 2009

Adel¹,

Tarnopolsky²

2009

Journal of Clinical Neuromuscular Disease

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Metabolic myopathies are inborn errors of metabolism that result in impaired energy production due to defects in glycogen, lipid, mitochondrial, and possibly adenine nucleotide metabolism. Fatty acid oxidation defects (FAOD), glycogen storage disease, and mitochondrial myopathies represent the 3 main groups of disorders, and some consider myoadenylate deaminase (AMPD1 deficiency) to be a metabolic myopathy. Clinically, a variety of neuromuscular presentations are seen at different ages of life. Newborns and infants commonly present with hypotonia and multisystem involvement (liver and brain), whereas onset later in life usually presents with exercise intolerance with or without progressive muscle weakness and myoglobinuria. In general, the glycogen storage diseases result in high-intensity exercise intolerance, whereas the FAODs and the mitochondrial myopathies manifest predominately during endurance-type activity or under fasted or other metabolically stressful conditions. The clinical examination is often normal, and testing requires various combinations of exercise stress testing, serum creatine kinase activity and lactate concentration determination, urine organic acids, muscle biopsy, neuroimaging, and specific genetic testing for the diagnosis of a specific metabolic myopathy. Prenatal screening is available in many countries for several of the FAODs through liquid chromatography-tandem mass spectrometry. Early identification of these conditions with lifestyle measures, nutritional intervention, and cofactor treatment is important to prevent or delay the onset of muscle weakness and to avoid potential life-threatening complications such as rhabdomyolysis with resultant renal failure or hepatic failure. This article will review the key clinical features, diagnostic tests, and treatment recommendations for the more common metabolic myopathies, with an emphasis on mitochondrial myopathies.

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Section: Clinical Presentationmentioning

confidence: 98%

Metabolic Myopathies: Update 2009

Adel¹,

Tarnopolsky²

2009

Journal of Clinical Neuromuscular Disease

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“…He had initially presented to the general pediatric unit at fourteen years of age for prolonged fever with an altered mental status. 11 An electroencephalogram (EEG) showed ongoing Revised: 27 February 2021 | Accepted: 7 March 2021 DOI: 10.1002/ccr3.4146…”

Section: Case Historymentioning

confidence: 99%

Psychiatric care for a person with MELAS syndrome: A case report

Leong

Chee

Lui

2021

Clinical Case Reports

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“…The molecular mechanisms underlying the pathogenesis of the m.3243A > G mutation are complex and not fully understood, although a primary defect in mitochondrial translation is a possible explanation 4 . Typically, high energy demand organs are affected resulting in a multisystem presentation 5 , with 58% of patients having four or more clinical symptoms compared with 12% of patients who are monosymptomatic 6 . Ocular abnormalities are a common finding in patients with the m.3243A > G mutation with over half of all patients developing at least one ophthalmological manifestation, in particular progressive external ophthalmoplegia and ptosis, but also visual failure secondary to retinal dystrophy with pigmentary retinopathy, or more rarely optic atrophy 6 – 9 .…”

Section: Introductionmentioning

confidence: 99%

Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation

Chichagova

Hallam

Collin

et al. 2017

Sci Rep

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The m.3243A > G mitochondrial DNA mutation was originally described in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The phenotypic spectrum of the m.3243A > G mutation has since expanded to include a spectrum of neuromuscular and ocular manifestations, including reduced vision with retinal degeneration, the underlying mechanism of which remains unclear. We used dermal fibroblasts, from patients with retinal pathology secondary to the m.3243A > G mutation to generate heteroplasmic induced pluripotent stem cell (hiPSC) clones. RPE cells differentiated from these hiPSCs contained morphologically abnormal mitochondria and melanosomes, and exhibited marked functional defects in phagocytosis of photoreceptor outer segments. These findings have striking similarities to the pathological abnormalities reported in RPE cells studied from post-mortem tissues of affected m.3243A > G mutation carriers. Overall, our results indicate that RPE cells carrying the m.3243A > G mutation have a reduced ability to perform the critical physiological function of phagocytosis. Aberrant melanosomal morphology may potentially have consequences on the ability of the cells to perform another important protective function, namely absorption of stray light. Our in vitro cell model could prove a powerful tool to further dissect the complex pathophysiological mechanisms that underlie the tissue specificity of the m.3243A > G mutation, and importantly, allow the future testing of novel therapeutic agents.

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Multiple Neurologic, Psychiatric, and Endocrine Complaints in a Young Woman: A Case Discussion and Review of the Clinical Features and Management of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke

Cited by 9 publications

References 59 publications

Metabolic Myopathies: Update 2009

Metabolic Myopathies: Update 2009

Psychiatric care for a person with MELAS syndrome: A case report

Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation

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