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Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience
Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the prenatal period. Our study aimed to present different clinical and radiological manifestations of our genetically diagnosed PCH patients. Method: Si...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9461104/ https://www.ncbi.nlm.nih.gov/pubmed/36076253 http://dx.doi.org/10.1186/s13052-022-01349-9 |
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author | Bilge, Serap Mert, Gülen Gül Hergüner, Özlem Özcanyüz, Duygu Bozdoğan, Sevcan Tuğ Kaya, Ömer Havalı, Cengiz |
author_facet | Bilge, Serap Mert, Gülen Gül Hergüner, Özlem Özcanyüz, Duygu Bozdoğan, Sevcan Tuğ Kaya, Ömer Havalı, Cengiz |
author_sort | Bilge, Serap |
collection | PubMed |
description | Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the prenatal period. Our study aimed to present different clinical and radiological manifestations of our genetically diagnosed PCH patients. Method: Six patients were enrolled in this study from September 2018 to March 2021. All the clinical radiological and genetic investigations were done at Cukurova University Medical School. Results: Five children were diagnosed genetically and categorized under one of the types of PCH (type 10,7,11). Homozygous mutations in CLP1 In PCH type 10, TOE1 in PCH type 7, and TBC1D23 in PCH type 11 were respectively detected. Pateint with PCH type 11 and female patient with PCH type 7 could walk and speak few words. Male patient with PCH type 7 had disorder of sex development. Conclusion: According to our study, PCH is a rare neurodegenerative disease, although some types are static as PCH11 male gender and PCH7 female gender. Some clinical features are specific to a definite type. PCH7 express disorders of sex development most apparent in 46 XY. Some ethnic groups could express distinct subtypes. PCH10 is seen in the Turkish population. Radiological imaging is beneficial in pre-diagnosis; all the patients had different pons and cerebellar hypoplasia degrees. Genetic testing like whole exome sequencing -next-generation sequencing is essential in setting the definite diagnosis and determining the type/subtype of PCH. |
format | Online Article Text |
id | pubmed-9461104 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-94611042022-09-10 Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience Bilge, Serap Mert, Gülen Gül Hergüner, Özlem Özcanyüz, Duygu Bozdoğan, Sevcan Tuğ Kaya, Ömer Havalı, Cengiz Ital J Pediatr Research Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the prenatal period. Our study aimed to present different clinical and radiological manifestations of our genetically diagnosed PCH patients. Method: Six patients were enrolled in this study from September 2018 to March 2021. All the clinical radiological and genetic investigations were done at Cukurova University Medical School. Results: Five children were diagnosed genetically and categorized under one of the types of PCH (type 10,7,11). Homozygous mutations in CLP1 In PCH type 10, TOE1 in PCH type 7, and TBC1D23 in PCH type 11 were respectively detected. Pateint with PCH type 11 and female patient with PCH type 7 could walk and speak few words. Male patient with PCH type 7 had disorder of sex development. Conclusion: According to our study, PCH is a rare neurodegenerative disease, although some types are static as PCH11 male gender and PCH7 female gender. Some clinical features are specific to a definite type. PCH7 express disorders of sex development most apparent in 46 XY. Some ethnic groups could express distinct subtypes. PCH10 is seen in the Turkish population. Radiological imaging is beneficial in pre-diagnosis; all the patients had different pons and cerebellar hypoplasia degrees. Genetic testing like whole exome sequencing -next-generation sequencing is essential in setting the definite diagnosis and determining the type/subtype of PCH. BioMed Central 2022-09-08 /pmc/articles/PMC9461104/ /pubmed/36076253 http://dx.doi.org/10.1186/s13052-022-01349-9 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 | Research Bilge, Serap Mert, Gülen Gül Hergüner, Özlem Özcanyüz, Duygu Bozdoğan, Sevcan Tuğ Kaya, Ömer Havalı, Cengiz Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience |
title | Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience |
title_full | Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience |
title_fullStr | Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience |
title_full_unstemmed | Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience |
title_short | Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience |
title_sort | clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9461104/ https://www.ncbi.nlm.nih.gov/pubmed/36076253 http://dx.doi.org/10.1186/s13052-022-01349-9 |
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