Cases reported "Merrf Syndrome"

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1/60. The role of plastic surgery in the management of airway obstruction.

    A patient with the rare genetic disease of mitochondrial oxidative phosphorylation is presented. The phenotypic presentation included localized, idiosyncratic lipodystrophy that caused life-threatening respiratory obstruction. Plastic surgical excision and suction-assisted lipoplasty of huge deposits of fat and skin led to marked improvement in patient posture and ventilation. This rare disorder, stages of treatment, and salient references are discussed. ( info)

2/60. lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

    Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA-lysine gene of the mitochondrial dna, mainly in the context of families with classic myoclonic epilepsy with ragged-red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on two families harboring the 8344 mutation. The patients presented with MSL and myopathy, expressed as limb girdle weakness in index cases and as exercise intolerance in the others. All muscle biopsies performed showed lipid storage apart from RRF and respiratory chain complexes deficiency. A possible explanation for both adipose proliferation and lipid storage myopathy in these cases is a disturbance in intermediary lipid metabolism secondary to mitochondrial respiratory chain deficiency that could be related via carnitine deficiency. ( info)

3/60. Mitochondrial respiratory-chain defects presenting as nonspecific features in children.

    patients with mitochondrial respiratory-chain defects frequently exhibit lactic acidosis, ragged red fibers in skeletal muscle samples, and abnormal enzyme assays for the respiratory-chain complex. However, ragged red fibers and lactic acidosis are not always seen in all patients with mitochondrial respiratory-chain defects. We have encountered six children with biochemically proven respiratory chain defects, but typical ragged red fibers were not found in all six patients, and only five patients had increased serum lactate levels. Initially, they present with nonspecific features. However, persistent or progressive clinical features or multiple organ involvement eventually led to the diagnosis of respiratory-chain defects in these patients. Mitochondrial respiratory-chain defects should be considered in the differential diagnosis when persistent, progressive features and especially multiple organ involvement occur. ( info)

4/60. Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease.

    We report an 11-year-old boy with a slight developmental delay and epilepsy. After he was placed on valproate, he developed hepatic failure and increasing neurologic symptoms, including epilepsia partialis continua, and died. autopsy findings in liver and cerebrum were consistent with progressive neuronal degeneration of childhood with liver disease, also called Alpers-Huttenlocher syndrome. Ragged red fibers and cytochrome c oxidase negative fibers were present in muscle. These results suggest that Alpers-Huttenlocher syndrome, at least in some patients, is a mitochondrial disease. ( info)

5/60. Thalamic activation in photic myoclonus.

    Regional cerebral blood flow (rCBF) during photic myoclonus was studied by means of positron emission tomography in a 51-year-old male patient suffering from MERRF (myoclonic epilepsy with ragged-red fibres). Frequencies of 3 Hz and 5 Hz flash stimulation were used. Both frequencies elicited paroxysmal EEG-abnormalities but only the higher frequency induced generalized myoclonic jerks. We found a left dominated significant increase of rCBF in the thalamus during myoclonus. The thalamic asymmetry was significant when tested with an ROI approach. The myoclonic activity was accompanied by significantly increased activity in the supplementary motor cortex (SMA). Decreases in rCBF were seen in the limbic, temporal and occipital areas during photic stimulation at both flash frequencies, more expressed during myoclonus. The findings observed in this patient indicate a thalamic focus for photic myoclonus in MERRF. We suggest that photic stimulation induced an abnormal discharge in the thalamus, which was fed forwards via thalamo-cortical connections to the precentral motor cortex, to produce the muscle jerks. ( info)

6/60. G8363A mutation in the mitochondrial dna transfer ribonucleic acidLys gene: another cause of Leigh syndrome.

    We identified a G-->A transition at nt-8363 in the mitochondrial dna transfer ribonucleic acidLys gene in blood and muscle from a 13-month-old girl who had clinical and neuroradiologic evidence of Leigh syndrome and died at age 27 months. The mutation was less abundant in the same tissues from the patient's mother, who developed myoclonus epilepsy with ragged red fibers (MERRF) in her late 20s. In both mother and daughter, muscle histochemistry showed ragged red and cytochrome c oxidase-negative fibers and biochemical analysis showed partial defects of multiple respiratory-chain enzymes. A maternal half-sister of the proband had died at 2.5 years of age from neuropathologically proven Leigh syndrome. The G8363A mutation, which previously had been associated with cardiomyopathy and hearing loss, MERRF, and multiple lipomas, also should be included in the differential diagnosis of maternally inherited Leigh syndrome. ( info)

7/60. A case of MERRF associated with chronic pancreatitis.

    We report the first case to our knowledge of chronic pancreatitis associated with mitochondrial encephalopathy with the A8344G mitochondrial dna (mtDNA) mutation. This 10-year-old-girl had suffered from recurrent abdominal pain with elevated serum amylase and lipase since the age of 6, and easy fatigability, tremor and astatic seizures since the age of 8. A biopsy of quadriceps muscle revealed ragged-red-fibers and cytochrome c oxidase deficiency. Analysis of mtDNA in peripheral blood identified an A8344G mutation in the mitochondrial tRNA(Lys) gene. Taken together with physical signs of myoclonic seizures and cerebellar dysfunction, we diagnosed her as myoclonic epilepsy with ragged-red fibers associated with chronic pancreatitis. Although no association between mitochondrial disease and pancreatitis has yet been established, this case suggests it is necessary to consider the participation of mitochondrial abnormality in the pathogenesis of recurrent pancreatitis. ( info)

8/60. Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibres.

    Sensorineural hearing loss is a common symptom in patients with myoclonic epilepsy associated with ragged-red fibres (MERRF), one of the mitochondrial encephalomyopathies, although the lesion causing hearing loss in such cases remains unknown. Here we describe the audiological features in three MERRF patients, all of whom exhibited a point mutation in their mitochondrial dna at nucleotide 8344. Pure-tone threshold audiometry revealed bilateral, sloping-type, sensorineural hearing loss in all three patients. Distortion product otoacoustic emissions, electrocochleography, and auditory brainstem responses were variable, even differing between the right and left ears of the same patient. Taken together, our findings suggest that the primary lesion underlying hearing loss in MERRF patients is in the cochlea, although a retrocochlear lesion may be involved in some patients. ( info)

9/60. seizures in myoclonic epilepsy with ragged-red fibers detected by dna analysis: a case report.

    A 19-year-old Thai woman presented with progressive ataxia and generalized tonic-clonic seizures. Later on, she developed status epilepticus. blood was tested by molecular dna analysis which showed A8344G mitochondrial dna mutation associated with myoclonic epilepsy with ragged-red fibers (MERRF). We confirmed this finding in other members of this family. This is an interesting case report in thailand of MERRF identified to have A-->G transition mutation at nucleotide 8344 of mitochondrial tRNA(lys) gene without ragged-red fibers from histopathologic studies of muscle. Molecular genetic analysis in suspicious cases of mitochondrial disorders is necessary for proper management and genetic counseling. ( info)

10/60. Characteristics of breathing abnormality in Leigh and its overlap syndromes.

    In this report we describe the respiratory patterns of six patients with Leigh syndrome, including two individual cases with accompanying clinical phenotypes of Alpers disease and mitochondrial encephalopathy with ragged red fibers. In five cases where sleep apnea was monitored, each one showed isolated or post-sigh central apnea, hiccup, apneusis-like breathing and obstructive apnea in various combinations. The remaining patient with Alpers/Leigh overlap syndrome showed an apneusis-like pattern of dyspnea. The sleep structure was examined in three patients.Two patients with brainstem lesions showed a decrease in the deep sleep stages and an absence of REM sleep. Medullary lesions were found in four patients by magnetic resonance imaging or at autopsy and involved predominantly the dorsal respiratory group (DRG) of medullary neurons. The role of DRG lesions in the pathophysiology of respiratory symptoms in Leigh syndrome is discussed. ( info)
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