A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases

Magdolna Kósa; Emese Horváth; Tibor Kalmár; Zoltán Maróti; Imre Földesi; Csaba Bereczki

doi:10.1055/s-0042-1757621

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2024; 13(04): 320-325
DOI: 10.1055/s-0042-1757621

Case-Based Review

A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases

Magdolna Kósa

¹Department of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary

,

Emese Horváth

²Department of Medical Genetics, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary

,

Tibor Kalmár

¹Department of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary

,

Zoltán Maróti

¹Department of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary

,

Imre Földesi

³Department of Laboratory Medicine, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary

,

Csaba Bereczki

¹Department of Pediatrics and Pediatric Health Center, Albert Szent-Györgyi Health Centre, University of Szeged, Szeged, Hungary

› Author Affiliations

Abstract

Although data on T18 are widespread, there is a lack of knowledge on mosaic trisomy 18 (mT18). A current review of mT18 symptomatology, long-term follow-up, and potential health risks is lacking for health care professionals. Our paper addresses these, emphasizing the importance of regular tumor screening as a key message for mT18 patient follow-up. We also present the case of a female patient with mT18 who presented with diaphragmatic relaxation and cyclic vomiting syndrome (CVS), which had previously not been reported in this genetic condition. On further investigating the etiology of CVS, we revealed a novel mitochondrial mutation in the MT-ND6 gene in heteroplasmic form. Based on the literature, we hypothesize that the mitochondrial mutation together with mT18 could result in CVS.

Keywords

mosaic trisomy 18 - follow-up - cyclic vomiting syndrome - MT-ND6 mutation - diaphragmatic relaxation

Full Text

References

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Supplementary Material

Supplementary Material