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Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome

OBJECTIVE: This study aimed to summarize the magnetic resonance imaging (MRI) and computed tomography (CT) features of the central nervous system (CNS) in children with Hoyeraal‐Hreidarsson syndrome. METHODS: The imaging and clinical data of four children diagnosed with Hoyeraal‐Hreidarsson syndrome...

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Autores principales: Zhang, Ming‐Jie, Cao, Ya‐Xian, Wu, Hui‐Ying, Li, He‐Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119832/
https://www.ncbi.nlm.nih.gov/pubmed/33734615
http://dx.doi.org/10.1002/brb3.2079
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author Zhang, Ming‐Jie
Cao, Ya‐Xian
Wu, Hui‐Ying
Li, He‐Hong
author_facet Zhang, Ming‐Jie
Cao, Ya‐Xian
Wu, Hui‐Ying
Li, He‐Hong
author_sort Zhang, Ming‐Jie
collection PubMed
description OBJECTIVE: This study aimed to summarize the magnetic resonance imaging (MRI) and computed tomography (CT) features of the central nervous system (CNS) in children with Hoyeraal‐Hreidarsson syndrome. METHODS: The imaging and clinical data of four children diagnosed with Hoyeraal‐Hreidarsson syndrome by clinical and laboratory tests in the Guangzhou Women and Children's Medical Center were gathered and analyzed retrospectively. The clinical manifestations and CNS imaging features of Hoyeraal‐Hreidarsson syndrome were summarized based on our results and a literature review. RESULTS: Our results showed that delayed development, skin pigmentation, nail/toenail dystrophy, thrombocytopenia, and anemia are the most observed clinical presentations of Hoyeraal‐Hreidarsson syndrome. Important findings on CNS imaging showed that all patients had cerebellar hypoplasia, delayed myelination, hydrocephalus, brain atrophy, and calcification. The gene mutations in all cases were consistent with those of dyskeratosis congenita, including TINF2 mutations in three cases and DKC1 mutations in one case. CONCLUSION: Hoyeraal‐Hreidarsson syndrome is a severe variant of dyskeratosis congenita. Both DKC1 and TINF2 mutations can lead to the phenotypes of Hoyeraal‐Hreidarsson syndrome. In our study, CNS imaging revealed that cerebellar hypoplasia has an important diagnostic value for Hoyeraal‐Hreidarsson syndrome while delayed myelination, calcification of the parenchyma, brain atrophy, and hydrocephalus are also important findings on CNS imaging. Combining imaging features with clinical and laboratory indicators can assist the diagnosis of Hoyeraal‐Hreidarsson syndrome.
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spelling pubmed-81198322021-05-20 Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome Zhang, Ming‐Jie Cao, Ya‐Xian Wu, Hui‐Ying Li, He‐Hong Brain Behav Original Research OBJECTIVE: This study aimed to summarize the magnetic resonance imaging (MRI) and computed tomography (CT) features of the central nervous system (CNS) in children with Hoyeraal‐Hreidarsson syndrome. METHODS: The imaging and clinical data of four children diagnosed with Hoyeraal‐Hreidarsson syndrome by clinical and laboratory tests in the Guangzhou Women and Children's Medical Center were gathered and analyzed retrospectively. The clinical manifestations and CNS imaging features of Hoyeraal‐Hreidarsson syndrome were summarized based on our results and a literature review. RESULTS: Our results showed that delayed development, skin pigmentation, nail/toenail dystrophy, thrombocytopenia, and anemia are the most observed clinical presentations of Hoyeraal‐Hreidarsson syndrome. Important findings on CNS imaging showed that all patients had cerebellar hypoplasia, delayed myelination, hydrocephalus, brain atrophy, and calcification. The gene mutations in all cases were consistent with those of dyskeratosis congenita, including TINF2 mutations in three cases and DKC1 mutations in one case. CONCLUSION: Hoyeraal‐Hreidarsson syndrome is a severe variant of dyskeratosis congenita. Both DKC1 and TINF2 mutations can lead to the phenotypes of Hoyeraal‐Hreidarsson syndrome. In our study, CNS imaging revealed that cerebellar hypoplasia has an important diagnostic value for Hoyeraal‐Hreidarsson syndrome while delayed myelination, calcification of the parenchyma, brain atrophy, and hydrocephalus are also important findings on CNS imaging. Combining imaging features with clinical and laboratory indicators can assist the diagnosis of Hoyeraal‐Hreidarsson syndrome. John Wiley and Sons Inc. 2021-03-18 /pmc/articles/PMC8119832/ /pubmed/33734615 http://dx.doi.org/10.1002/brb3.2079 Text en © 2021 The Authors. Brain and Behavior published by Wiley Periodicals LLC https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Research
Zhang, Ming‐Jie
Cao, Ya‐Xian
Wu, Hui‐Ying
Li, He‐Hong
Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome
title Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome
title_full Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome
title_fullStr Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome
title_full_unstemmed Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome
title_short Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome
title_sort brain imaging features of children with hoyeraal‐hreidarsson syndrome
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119832/
https://www.ncbi.nlm.nih.gov/pubmed/33734615
http://dx.doi.org/10.1002/brb3.2079
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