Cases reported "Mitochondrial Myopathies"

Filter by keywords:



Filtering documents. Please wait...

1/18. mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure.

    We report on 3 siblings (2 females and 1 male) with chronic progressive external ophthalmoplegia (CPEO), compatible with inherited mitochondrial cytopathy. The younger of the two sisters died at the age of 37 due to progressive respiratory failure. The older one presented with a status epilepticus at the age of 39 and was treated with valproate. Five months after the start of treatment, she developed fulminant liver failure and died. The brother has suffered from CPEO since early childhood but has had so far no other symptoms of a mitochondrial disease. A muscle biopsy from the younger sister revealed ragged-red fibers and decreased activities of complex I and IV of the respiratory chain but no pathogenic mutations in the mitochondrial tRNA genes or in several locations in the coding region of the mitochondrial genome. In the older sister's liver (obtained post-mortem), mitochondrial dna was fragmented and could not be investigated. The clinical presentation and the biochemical findings suggest that all 3 siblings suffered from a mitochondrial cytopathy. Since mitochondrial cytopathies and valproate-induced fulminant liver failure are both rare events, an association between them is likely. mitochondrial diseases should therefore be considered as a risk factor for valproate-induced liver failure and be excluded before treatment with valproate.
- - - - - - - - - -
ranking = 1
keywords = chronic progressive
(Clic here for more details about this article)

2/18. Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.

    A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mitochondrial myopathy and neuropathy was diagnosed.
- - - - - - - - - -
ranking = 0.0004220332413922
keywords = sclerosis
(Clic here for more details about this article)

3/18. Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia.

    BACKGROUND: Chronic Progressive External ophthalmoplegia (CPEO) encompasses different conditions having in common a slowly progressive external and general ophthalmoplegia. The discovery of CPEO is suggestive of mitochondrial cytopathy, but this is not necessarily so. CASE REPORT: We report here a case, presenting at age 9 months, characterized by bilateral blepharoptosis and partial third nerve oculomotor deficiency, with no nystagmus. Mitochondrial cytopathy was suspected on cranial MRI and confirmed by muscle biopsy. Enzyme studies revealed a defect on the complex I respiratory chain. This case is unique in that the symptoms completely resolved under a Ketogen diet.
- - - - - - - - - -
ranking = 4
keywords = chronic progressive
(Clic here for more details about this article)

4/18. Mitochondriopathy mimicking amyotrophic lateral sclerosis.

    BACKGROUND: Mitochondriopathy has been rarely reported to imitate motor neuron disease. review SUMMARY: A 57-year-old, 157-cm-tall woman with clinical and electrophysiological features of motor neuron disease since 1993 is reported. She also had increased liver function parameters, hypothyroidism, and sinus tachycardia. Because her mother and sister had both died from assumed amyotrophic lateral sclerosis, familial ALS was diagnosed. On reevaluation, screening for superoxide-dismutase gene mutations was negative, but lactate stress testing was abnormal and muscle biopsy revealed patchy COX deficiency and abnormal mitochondria. Analysis of the muscle mtDNA revealed substitutions in the isoleucine tRNA, in the ATPase-6, and in the cytochrome-b gene, respectively. Based on these data, the diagnosis of ALS was changed to mitochondriopathy. CONCLUSIONS: Mitochondriopathy may mimic ALS, phenotypically and electrophysiologically. In patients with an ALS phenotype, slow progression, and multisystem involvement, mitochondriopathy should be considered a diagnostic possibility.
- - - - - - - - - -
ranking = 0.0004220332413922
keywords = sclerosis
(Clic here for more details about this article)

5/18. Mitochondrial disorder, diabetes mellitus, and findings in three muscles, including the heart.

    The authors describe the case of a 50-year-old man with chronic progressive external ophthalmoplegia (CPEO), diabetes mellitus (DM), and coronary artery disease. The patient had no cardiac conduction abnormalities. During coronary artery bypass surgery, his heart and two skeletal muscles were biopsied. All three muscles showed ragged red fibers. The heart muscle showed significant glycogen accumulation. Analysis of mitochondrial dna (mtDNA) showed a 5019-base-pair deletion, with no duplications. There were morphologically abnormal mitochondria in all 3 muscles, with clinically apparent difference in preservation of function. The combination of diabetes mellitus and mtDNA deletion is fortuitous, as they can be causally linked. The cardiac pathology allows speculation about the possible adaptive processes that may occur in the heart in DM. There are few reported cases with CPEO and excess glycogen in the heart. Most show deposition of fat and poorer clinical outcomes as compared to those with glycogen deposition. This observation may lend support to the hypothesis that in the myocardium, adaptive responses are mediated via changes in glucose handling, whereas alterations in fat metabolism likely represent maladaptation.
- - - - - - - - - -
ranking = 1
keywords = chronic progressive
(Clic here for more details about this article)

6/18. Fine mapping of randomly distributed multiple deletions of mitochondrial dna in a case of chronic progressive external ophthalmoplegia.

    Multiple deletions of mitochondrial dna have been detected by Southern blotting in the skeletal muscle of a 42-year-old woman with chronic progressive external ophthalmoplegia. A PCR method, using several combinations of primers covering the whole mtDNA as well as sequence analysis, disclosed the wide spectrum of these multiple deletions differing in size, location and sequence at the breakpoint junction. Most involved the major region between the two replication origins. However, three deletions affected the minor region and lacked either the light strand origin of replication or the heavy strand promoter. These data suggest an impairment of mtDNA replication leading to illegitimate recombination and extensive damage of mtDNA.
- - - - - - - - - -
ranking = 5
keywords = chronic progressive
(Clic here for more details about this article)

7/18. Multiple mitochondrial dna deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia.

    Deletions of muscle mitochondrial dna are known in mitochondrial myopathy patients who have chronic progressive external ophthalmoplegia (CPEO). A 41-year-old patient with no apparent family history of this condition suffers from hypertrophic cardiomyopathy, slight muscle atrophy, and weakness of the extremities, but not from CPEO. A muscle biopsy showed the presence of ragged-red fibers, and Southern blot analysis disclosed multiple deletions of muscle mitochondrial dna. This combination of clinical features in our patient is atypical in mitochondrial myopathy with demonstrable deleted muscle mitochondrial dna. Pleomorphic clinical expression is suggested.
- - - - - - - - - -
ranking = 1
keywords = chronic progressive
(Clic here for more details about this article)

8/18. Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy.

    A woman affected by chronic progressive external ophthalmoplegia and muscle mitochondrial dna deletion was studied by phosphorus magnetic resonance spectroscopy (31P-MRS) prior to and after 1 and 7 months of treatment with oral lipoic acid. Before treatment a decreased phosphocreatine (PCr) content was found in the occipital lobes, accompanied by normal inorganic phosphate (Pi) level and cytosolic pH. Based on these findings, we found a high cytosolic adenosine diphosphate concentration [ADP] and high relative rate of energy metabolism together with a low phosphorylation potential. Muscle MRS showed an abnormal work-energy cost transfer function and a low rate of PCr recovery during the post-exercise period. All of these findings indicated a deficit of mitochondrial function in both brain and muscle. Treatment with 600 mg lipoic acid daily for 1 month resulted in a 55% increase of brain [PCr], 72% increase of phosphorylation potential, and a decrease of calculated [ADP] and rate of energy metabolism. After 7 months of treatment MRS data and mitochondrial function had improved further. Treatment with lipoate also led to a 64% increase in the initial slope of the work-energy cost transfer function in the working calf muscle and worsened the rate of PCr resynthesis during recovery. The patient reported subjective improvement of general conditions and muscle performance after therapy. Our results indicate that treatment with lipoate caused a relevant increase in levels of energy available in brain and skeletal muscle during exercise.
- - - - - - - - - -
ranking = 1
keywords = chronic progressive
(Clic here for more details about this article)

9/18. multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases.

    A woman with definite multiple sclerosis (MS) and mitochondrial myopathy is described. There were widespread white matter lesions on magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) abnormalities and evoked response changes. Muscle biopsy showed ragged red fibres (RRFs) and cytochrome c oxidase (CoX) deficiency. Southern blot analysis revealed a large deletion of mitochondrial dna (mtDNA). The patient may be affected by two unrelated diseases, MS and mitochondrial myopathy, but this combination has never previously been reported.
- - - - - - - - - -
ranking = 0.0004220332413922
keywords = sclerosis
(Clic here for more details about this article)

10/18. Mitochondrial disease with encephalopathy or limb girdle myopathy: a report of five cases.

    Over the past 13 years at VGH-Taipei, five cases were morphologically defined as having mitochondrial disease and clinically presented with syndromes other than chronic progressive external ophthalmoplegia. There were two cases presenting with dementia, extensive and symmetrical intracerebral calcification but no clinical and other laboratory evidence of skeletal muscle affection; one case with merrf syndrome; one case with congenital myopathy and cardiomyopathy; and one case with prednisolone-responsive and polymyositis-like myopathy. The following comments are made: 1. The inexplicably lower incidence of encephalopathy group might result from inadequate alertness of clinicians. 2. The clinical classification might have some clinical convenience, but, identification of defects at the DAN level and determination of the phenotypic expression with clinical, morphologic and biochemical methods are fundamental for future rational diagnosis and classification of mitochondrial diseases.
- - - - - - - - - -
ranking = 1
keywords = chronic progressive
(Clic here for more details about this article)
| Next ->


Leave a message about 'Mitochondrial Myopathies'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.