Pregnancy and delivery complicated with MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes): a case report.
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[Mitochondria] myopathy is caused by several biochemical defects involving the energy-producing mitochondrial enzyme system. The disease is associated with impairment of muscular function, which may be progressive, intermittent or fluctuant. Inheritance is thought to be via maternal transmission. MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a type of the mitochondrial myopathy characterized by stroke-like episodes, elevation of lactate level in both the blood and cerebrospinal fluid, and pathologically or biochemically abnormal finding of the mitochondria. We report a case of MELAS. The patient developed exercise intolerance at 27 weeks of gestation and had normal parturition and puerperium. She was a 31-year-old nulliparous woman who had two siblings diagnosed as MELLAASS.. At the age of 25, she had experienced seizure-like episodes. She complained of muscular hypotonia, exercise intolerance and uterine contraction at 27 weeks of gestation. Although periodical uterine contraction was shown by CTG, gynecological examination and sonography revealed no remarkable change. The disturbance of electrolytes, severe metabolic acidosis and elevated lactate level were noted by laboratory procedure. The presence of a T to C point mutation at nucleotide position 3271in the mitochondrial DNA tRNA`-`'"'1"' was indicated by the mitochondrial DNA analysis of the peripheral blood. The muscular hypotonia and exercise intolerance were gradually improved by supplement of electrolyte and adjustment of acid-base balance. At 38 weeks, she went into spontanous labor. Although labor progressed normally, vacuum extraction was performed due to non-reassuring FIIR pattern indicating severe variable deceleration at the second stage of labor. She delivered transvaginally a male infant weighing 3472 gram with Apgar score of 5 and 10 at 1 and 5 minutes. Although postpartum lactic acidosis required administration of 7 % sodium bicarbonate, the postpartum course for both the mother and infant was uneventful. Recently, it is well accepted that a mutation of mitochondrial DNA causes not only mitochondrial myopathy but diabetes mellitus, cardiomyopathy and other degenerative disease. Further investigation on perinatal care of pregnancy with mitochondrial disease are needed. [Adv Obstet Gynecol 49 (5); 568-572, 1997 (H9.9)]
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