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Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive disorder showing a pediatric or adult onset. First described in 1996 by Labrune and colleagues, it was only in 2016 that bi-allelic variants in a non-protein coding gene, SNORD118, were found as the cause for LCC,...

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Autores principales: Politano, Davide, Catalano, Guido, Pezzotti, Elena, Varesio, Costanza, Sirchia, Fabio, Casella, Antonella, Rognone, Elisa, Pichiecchio, Anna, Borgatti, Renato, Orcesi, Simona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531261/
https://www.ncbi.nlm.nih.gov/pubmed/37761957
http://dx.doi.org/10.3390/genes14091817
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author Politano, Davide
Catalano, Guido
Pezzotti, Elena
Varesio, Costanza
Sirchia, Fabio
Casella, Antonella
Rognone, Elisa
Pichiecchio, Anna
Borgatti, Renato
Orcesi, Simona
author_facet Politano, Davide
Catalano, Guido
Pezzotti, Elena
Varesio, Costanza
Sirchia, Fabio
Casella, Antonella
Rognone, Elisa
Pichiecchio, Anna
Borgatti, Renato
Orcesi, Simona
author_sort Politano, Davide
collection PubMed
description Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive disorder showing a pediatric or adult onset. First described in 1996 by Labrune and colleagues, it was only in 2016 that bi-allelic variants in a non-protein coding gene, SNORD118, were found as the cause for LCC, differentiating this syndrome from coats plus (CP). SNORD118 transcribes for a small nucleolar RNA, which is necessary for correct ribosome biogenesis, hence the classification of LCC among ribosomopathies. The syndrome is characterized by a combination of white matter hyperintensities, calcifications, and cysts on brain MRI with varying neurological signs. Corticosteroids, surgery, and recently bevacizumab, have been tried with unclear results since the natural history of the disease remains elusive. To date, 67 patients with a pediatric onset of disease have been described in the literature, with a clinical-radiological follow-up carried out in only eleven of them. We described the clinical-radiological follow-up from birth to almost five years of age of a late-preterm patient diagnosed with LCC and carried out a thorough overview of pediatric patients described in the literature. It is important to gather serial clinical–radiological data from other patients to depict the natural history of this disease, aiming to deeply depict genotype-phenotype correlations and make the role of new therapeutics clearer.
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spelling pubmed-105312612023-09-28 Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature Politano, Davide Catalano, Guido Pezzotti, Elena Varesio, Costanza Sirchia, Fabio Casella, Antonella Rognone, Elisa Pichiecchio, Anna Borgatti, Renato Orcesi, Simona Genes (Basel) Article Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive disorder showing a pediatric or adult onset. First described in 1996 by Labrune and colleagues, it was only in 2016 that bi-allelic variants in a non-protein coding gene, SNORD118, were found as the cause for LCC, differentiating this syndrome from coats plus (CP). SNORD118 transcribes for a small nucleolar RNA, which is necessary for correct ribosome biogenesis, hence the classification of LCC among ribosomopathies. The syndrome is characterized by a combination of white matter hyperintensities, calcifications, and cysts on brain MRI with varying neurological signs. Corticosteroids, surgery, and recently bevacizumab, have been tried with unclear results since the natural history of the disease remains elusive. To date, 67 patients with a pediatric onset of disease have been described in the literature, with a clinical-radiological follow-up carried out in only eleven of them. We described the clinical-radiological follow-up from birth to almost five years of age of a late-preterm patient diagnosed with LCC and carried out a thorough overview of pediatric patients described in the literature. It is important to gather serial clinical–radiological data from other patients to depict the natural history of this disease, aiming to deeply depict genotype-phenotype correlations and make the role of new therapeutics clearer. MDPI 2023-09-19 /pmc/articles/PMC10531261/ /pubmed/37761957 http://dx.doi.org/10.3390/genes14091817 Text en © 2023 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 Article
Politano, Davide
Catalano, Guido
Pezzotti, Elena
Varesio, Costanza
Sirchia, Fabio
Casella, Antonella
Rognone, Elisa
Pichiecchio, Anna
Borgatti, Renato
Orcesi, Simona
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
title Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
title_full Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
title_fullStr Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
title_full_unstemmed Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
title_short Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
title_sort expanding the natural history of snord118-related ribosomopathy: hints from an early-diagnosed patient with leukoencephalopathy with calcifications and cysts and overview of the literature
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531261/
https://www.ncbi.nlm.nih.gov/pubmed/37761957
http://dx.doi.org/10.3390/genes14091817
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