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Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature

Authors Alonzo Martínez MC, Cazorla E, Cánovas E, Anniuk K, Cores AE, Serrano AM

Received 30 November 2019

Accepted for publication 16 January 2020

Published 30 January 2020 Volume 2020:13 Pages 49—55

DOI https://doi.org/10.2147/TACG.S239917

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer


MC Alonzo Martínez,1 E Cazorla,1 E Cánovas,1 K Anniuk,1 AE Cores,2 AM Serrano1

1Department of Obstetrics and Gynecology, Hospital Universitario de Torrevieja, Torrevieja, Alicante, Spain; 2Department of Radiology, Hospital Universitario de Torrevieja, Torrevieja, Alicante, Spain

Correspondence: E Cazorla
Servicio de Obstetricia y Ginecología, Hospital Universitario de Torrevieja, Ctra. Torrevieja a San Miguel de las Salinas CV 95 Partida de la Ceñuela, Torrevieja 03186, Alicante, Spain
Tel +34 629679956
Fax +34 965721368
Email ecazorla@torrevieja-salud.com

Abstract: The molybdenum cofactor deficiency is an autosomal recessive disease, characterized by rapidly progressive and severe neurological damage that mimics a hypoxic-ischemic encephalopathy due to the accumulation of toxic metabolites that cause rapid neurodegeneration after the delivery. It is eventually lethal, in a similar way to the rare isolated sulfite oxidase deficiency. This serious pathology usually causes death in the immediate neonatal period in the more severe variants. We report a case of two consecutive pregnancies with enlarged cisterna magna as the only prenatal pathological finding since 26 weeks of gestation (WG) and the subsequent death of the newborns in the first week after birth. After the second pregnancy, we reached the diagnosis of molybdenum cofactor deficiency due to MOCS1 gene mutation. According to the cases reported in the literature, this is the case with the earliest neuroimage prenatal findings.

Keywords: inborn error of metabolism, molybdenum cofactor, prenatal diagnosis, sulfite, cPMP, hypoxic-ischemic encephalopathy

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