Long term follow-up in two siblings with Sengers syndrome: Case report

BACKGROUND: Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to a...

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Autores principales: Panicucci, Chiara, Schiaffino, Maria Cristina, Nesti, Claudia, Derchi, Maria, Trocchio, Gianluca, Severino, Mariasavina, Stagnaro, Nicola, Priolo, Enrico, Zara, Federico, Santorelli, Filippo M., Bruno, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9575244/
https://www.ncbi.nlm.nih.gov/pubmed/36253788
http://dx.doi.org/10.1186/s13052-022-01370-y
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author Panicucci, Chiara
Schiaffino, Maria Cristina
Nesti, Claudia
Derchi, Maria
Trocchio, Gianluca
Severino, Mariasavina
Stagnaro, Nicola
Priolo, Enrico
Zara, Federico
Santorelli, Filippo M.
Bruno, Claudio
author_facet Panicucci, Chiara
Schiaffino, Maria Cristina
Nesti, Claudia
Derchi, Maria
Trocchio, Gianluca
Severino, Mariasavina
Stagnaro, Nicola
Priolo, Enrico
Zara, Federico
Santorelli, Filippo M.
Bruno, Claudio
author_sort Panicucci, Chiara
collection PubMed
description BACKGROUND: Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to an isolated form of congenital cataract. Thus far few reported cases have survived the second decade at their latest examination, and no natural history data are available for the disease. CASE PRESENTATION: Here we provide a 20-year follow-up in two siblings with a benign form of Sengers syndrome, expanding the phenotypical spectrum of the disease by reporting a condition of ovarian agenesis. CONCLUSION: To our knowledge, this report provides the first longitudinal data of Sengers syndrome patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13052-022-01370-y.
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spelling pubmed-95752442022-10-18 Long term follow-up in two siblings with Sengers syndrome: Case report Panicucci, Chiara Schiaffino, Maria Cristina Nesti, Claudia Derchi, Maria Trocchio, Gianluca Severino, Mariasavina Stagnaro, Nicola Priolo, Enrico Zara, Federico Santorelli, Filippo M. Bruno, Claudio Ital J Pediatr Case Report BACKGROUND: Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to an isolated form of congenital cataract. Thus far few reported cases have survived the second decade at their latest examination, and no natural history data are available for the disease. CASE PRESENTATION: Here we provide a 20-year follow-up in two siblings with a benign form of Sengers syndrome, expanding the phenotypical spectrum of the disease by reporting a condition of ovarian agenesis. CONCLUSION: To our knowledge, this report provides the first longitudinal data of Sengers syndrome patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13052-022-01370-y. BioMed Central 2022-10-17 /pmc/articles/PMC9575244/ /pubmed/36253788 http://dx.doi.org/10.1186/s13052-022-01370-y Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Panicucci, Chiara
Schiaffino, Maria Cristina
Nesti, Claudia
Derchi, Maria
Trocchio, Gianluca
Severino, Mariasavina
Stagnaro, Nicola
Priolo, Enrico
Zara, Federico
Santorelli, Filippo M.
Bruno, Claudio
Long term follow-up in two siblings with Sengers syndrome: Case report
title Long term follow-up in two siblings with Sengers syndrome: Case report
title_full Long term follow-up in two siblings with Sengers syndrome: Case report
title_fullStr Long term follow-up in two siblings with Sengers syndrome: Case report
title_full_unstemmed Long term follow-up in two siblings with Sengers syndrome: Case report
title_short Long term follow-up in two siblings with Sengers syndrome: Case report
title_sort long term follow-up in two siblings with sengers syndrome: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9575244/
https://www.ncbi.nlm.nih.gov/pubmed/36253788
http://dx.doi.org/10.1186/s13052-022-01370-y
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