Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome
Abstract 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 s...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-05-01
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| Series: | Brain and Behavior |
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| Online Access: | https://doi.org/10.1002/brb3.2079 |
| _version_ | 1818640931333603328 |
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| author | Ming‐Jie Zhang Ya‐Xian Cao Hui‐Ying Wu He‐Hong Li |
| author_facet | Ming‐Jie Zhang Ya‐Xian Cao Hui‐Ying Wu He‐Hong Li |
| author_sort | Ming‐Jie Zhang |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-16T23:19:06Z |
| format | Article |
| id | doaj.art-a3e212a4068a497fb8d9a166f706d657 |
| institution | Directory Open Access Journal |
| issn | 2162-3279 |
| language | English |
| last_indexed | 2024-12-16T23:19:06Z |
| publishDate | 2021-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | Brain and Behavior |
| spelling | doaj.art-a3e212a4068a497fb8d9a166f706d6572022-12-21T22:12:13ZengWileyBrain and Behavior2162-32792021-05-01115n/an/a10.1002/brb3.2079Brain imaging features of children with Hoyeraal‐Hreidarsson syndromeMing‐Jie Zhang0Ya‐Xian Cao1Hui‐Ying Wu2He‐Hong Li3Department of Radiology Guangzhou Women and Children's Medical Center Guangzhou ChinaDepartment of Radiology Guangzhou Women and Children's Medical Center Guangzhou ChinaDepartment of Radiology Guangzhou Women and Children's Medical Center Guangzhou ChinaDepartment of Radiology Guangzhou Women and Children's Medical Center Guangzhou ChinaAbstract 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.https://doi.org/10.1002/brb3.2079cerebellar hypoplasiaDKC1dyskeratosis congenitaHoyeraal‐Hreidarsson syndromeTINF2 |
| spellingShingle | Ming‐Jie Zhang Ya‐Xian Cao Hui‐Ying Wu He‐Hong Li Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome Brain and Behavior cerebellar hypoplasia DKC1 dyskeratosis congenita Hoyeraal‐Hreidarsson syndrome TINF2 |
| 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 | cerebellar hypoplasia DKC1 dyskeratosis congenita Hoyeraal‐Hreidarsson syndrome TINF2 |
| url | https://doi.org/10.1002/brb3.2079 |
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