Cargando…

Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature

Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome. Therefore, our aim was to evaluate the possible long-term neurological effects of fetal exposure to high levels of methylmalo...

Descripción completa

Detalles Bibliográficos
Autores principales: Marcellino, Alessia, Guido, Cristiana Alessia, Bloise, Silvia, Mallardo, Saverio, Isoldi, Sara, Del Giudice, Emanuela, Dilillo, Anna, Martucci, Vanessa, Sanseviero, Mariateresa, Iorfida, Donatella, Spalice, Alberto, Lubrano, Riccardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8619094/
https://www.ncbi.nlm.nih.gov/pubmed/34828726
http://dx.doi.org/10.3390/children8111013
_version_ 1784604906698571776
author Marcellino, Alessia
Guido, Cristiana Alessia
Bloise, Silvia
Mallardo, Saverio
Isoldi, Sara
Del Giudice, Emanuela
Dilillo, Anna
Martucci, Vanessa
Sanseviero, Mariateresa
Iorfida, Donatella
Spalice, Alberto
Lubrano, Riccardo
author_facet Marcellino, Alessia
Guido, Cristiana Alessia
Bloise, Silvia
Mallardo, Saverio
Isoldi, Sara
Del Giudice, Emanuela
Dilillo, Anna
Martucci, Vanessa
Sanseviero, Mariateresa
Iorfida, Donatella
Spalice, Alberto
Lubrano, Riccardo
author_sort Marcellino, Alessia
collection PubMed
description Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome. Therefore, our aim was to evaluate the possible long-term neurological effects of fetal exposure to high levels of methylmalonic acid in a child of a renal transplant recipient. Methods: we retrospectively evaluated the clinical and neurological records of a girl whose mother is a kidney transplant recipient affected by methylmalonic acidemia. Subsequently, we compared our results with the ones already published. Results: the girl’s weight and stature were within the normal range in the first years of life but, starting from 4 years of age, she became progressively overweight. Regarding the neurodevelopment aspects, for the first time we performed a complete and seriated neuropsychological evaluation, highlighting a mild but significant weakness in the verbal domain, with a worsening trend at three-year revaluation. Conclusions: since children of MMA patients are exposed to methylmalonic acid, the efforts of the physicians caring for these children should be directed on careful evaluation of growth, prevention of obesity and regular neurological examination together with structured neuropsychological tests to achieve a better insight in possible complications of pregnancy in patients suffering from this condition.
format Online
Article
Text
id pubmed-8619094
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-86190942021-11-27 Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature Marcellino, Alessia Guido, Cristiana Alessia Bloise, Silvia Mallardo, Saverio Isoldi, Sara Del Giudice, Emanuela Dilillo, Anna Martucci, Vanessa Sanseviero, Mariateresa Iorfida, Donatella Spalice, Alberto Lubrano, Riccardo Children (Basel) Review Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome. Therefore, our aim was to evaluate the possible long-term neurological effects of fetal exposure to high levels of methylmalonic acid in a child of a renal transplant recipient. Methods: we retrospectively evaluated the clinical and neurological records of a girl whose mother is a kidney transplant recipient affected by methylmalonic acidemia. Subsequently, we compared our results with the ones already published. Results: the girl’s weight and stature were within the normal range in the first years of life but, starting from 4 years of age, she became progressively overweight. Regarding the neurodevelopment aspects, for the first time we performed a complete and seriated neuropsychological evaluation, highlighting a mild but significant weakness in the verbal domain, with a worsening trend at three-year revaluation. Conclusions: since children of MMA patients are exposed to methylmalonic acid, the efforts of the physicians caring for these children should be directed on careful evaluation of growth, prevention of obesity and regular neurological examination together with structured neuropsychological tests to achieve a better insight in possible complications of pregnancy in patients suffering from this condition. MDPI 2021-11-05 /pmc/articles/PMC8619094/ /pubmed/34828726 http://dx.doi.org/10.3390/children8111013 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Marcellino, Alessia
Guido, Cristiana Alessia
Bloise, Silvia
Mallardo, Saverio
Isoldi, Sara
Del Giudice, Emanuela
Dilillo, Anna
Martucci, Vanessa
Sanseviero, Mariateresa
Iorfida, Donatella
Spalice, Alberto
Lubrano, Riccardo
Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_full Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_fullStr Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_full_unstemmed Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_short Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature
title_sort physical and neurological development of a girl born to a mother with methylmalonic acidemia and kidney transplantation and review of the literature
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8619094/
https://www.ncbi.nlm.nih.gov/pubmed/34828726
http://dx.doi.org/10.3390/children8111013
work_keys_str_mv AT marcellinoalessia physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT guidocristianaalessia physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT bloisesilvia physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT mallardosaverio physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT isoldisara physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT delgiudiceemanuela physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT dililloanna physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT martuccivanessa physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT sansevieromariateresa physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT iorfidadonatella physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT spalicealberto physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature
AT lubranoriccardo physicalandneurologicaldevelopmentofagirlborntoamotherwithmethylmalonicacidemiaandkidneytransplantationandreviewoftheliterature