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Case Reports
. 2020 Dec;7(12):2484-2488.
doi: 10.1002/acn3.51202. Epub 2020 Nov 7.

Pregnancy in MNGIE: a clinical and metabolic honeymoon

Pauline Pappalardo  1 , Jean-François Benoist  2 , Bridget E Bax  3 , Clarisse Carra-Dallière  4 , Cecilia Marelli  4 , Michele Levene  3 , Laetitia Begue  5 , Anne Rolland  6 , Nicolas Flori  7 , François Rivier  1   8 , Catherine Blanchet  9 , Arnold Munnich  10 , Romain Altwegg  11 , Pierre Meyer  1   8 , Agathe Roubertie  1   12
Affiliations
Case Reports

Pregnancy in MNGIE: a clinical and metabolic honeymoon

Pauline Pappalardo et al. Ann Clin Transl Neurol. 2020 Dec.

Abstract

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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Conflict of interest statement

All the authors confirm that there is no conflict of interest to declare.

Figures

Figure 1
Figure 1
A: Body weight of the patient between 14 years of age until last follow‐up at 26; B: plasma concentrations of deoxyribonucleosides during pregnancy.
See this image and copyright information in PMC

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