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Pregnancy in MNGIE: a clinical and metabolic honeymoon

Pauline Pappalardo1, Jean-François Benoist2, Bridget E Bax3

  • 1Département de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France.

Annals of Clinical and Translational Neurology
|November 7, 2020
PubMed

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an inherited disease caused by a deficiency in thymidine phosphorylase and characterized by elevated systemic deoxyribonucleotides and gastrointestinal (GI) and neurological manifestations. We report the clinical and biochemical manifestations that were evaluated in a single patient before, during, and after pregnancy, over a period of 7 years. GI symptoms significantly improved, and plasma deoxyribonucleotide concentrations decreased during pregnancy. Within days after delivery, the patient's digestive symptoms recurred, coinciding with a rapid increase in plasma deoxyribonucleotide concentrations. We hypothesize that the clinico-metabolic improvements could be attributed to the enzyme replacement action of the placental thymidine phosphorylase.

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