Grossesse chez une patiente atteinte de cytopathie mitochondriale

Abstract

We report a case of a pregnant woman with a mitochondrial disorder affecting the energy-generating pathway of oxidative phosphorylation which was suggested when the patient presented the progressive clinical phenotype of a proximal tubular renal insufficiency, a muscular weakness of extremities, a bilateral optic neuropathy and a brain magnetic resonance imaging suggesting diffuse leucoencephalopathy. Her diagnosis was made on the basis of abnormal mitochondria on a muscle biopsy and of spectrophotometric deficiencies of the complexes I, II+III and IV of the respiratory chain. No specific molecular mutation could be detected. Her pregnancy was complicated by a severe preeclampsia, an insulin requiring gestational diabetes and a worrying renal failure which precipitated the premature delivery by cesarean section at 30 weeks gestation. The clinical course of the female neonate weighing 1030 grams was uneventful. At two Years of age she showed no sign of mitochondrial disease. But the postpartum course of the mother was complicated by seizures and a terminal renal failure leading presently to dialysis, but requiring a kidney transplantation in the near future.