Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY
Abstract Objective The phenotype of the chromosomal aberration 47, XXY exhibits considerable heterogenicity. In addition, epilepsy is extremely uncommon in individuals with this chromosomal disorder. As a result, the clinical characteristics of epilepsy in these patients remain poorly understood. Me...
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| Format: | Article |
| Language: | English |
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Wiley
2023-08-01
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| Series: | Brain and Behavior |
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| Online Access: | https://doi.org/10.1002/brb3.3178 |
| _version_ | 1797359474657198080 |
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| author | Congjie Chen Yuanyuan Luo Xueqing Hou Tingsong Li |
| author_facet | Congjie Chen Yuanyuan Luo Xueqing Hou Tingsong Li |
| author_sort | Congjie Chen |
| collection | DOAJ |
| description | Abstract Objective The phenotype of the chromosomal aberration 47, XXY exhibits considerable heterogenicity. In addition, epilepsy is extremely uncommon in individuals with this chromosomal disorder. As a result, the clinical characteristics of epilepsy in these patients remain poorly understood. Methods Clinical data and the evolution of epilepsy in a boy diagnosed with chromosomal aberration 47, XXY were collected and analyzed. Furthermore, a systematic literature review was conducted to examine the relationship between chromosomal aberration 47, XXY and epilepsy in children. Results We identified a novel phenotype associated with the chromosomal anomaly 47, XXY in a 2‐year‐2‐month‐old boy who presented with self‐limited epilepsy with autonomic seizures at onset, followed by developmental and/or epileptic encephalopathy with spike‐wave activation in sleep (D/EE‐SWAS), which was responsive to corticosteroid treatment. Including the present case, we analyzed 21 cases of children diagnosed with epilepsy due to the presence of the 47, XXY chromosomal anomaly. The most common types of epilepsy were focal combined generalized epilepsy (n = 9), epileptic spasms (n = 6), and generalized epilepsy (n = 4). There were six cases of infantile epileptic spasm syndrome (IESS) (n = 5) and developmental and epileptic encephalopathy (n = 1), one case of Lennox–Gastaut syndrome, and one case of D/EE‐SWAS. Apart from corticosteroids in IESS, 15 antiseizure medications (ASMs) were prescribed to eight children in this cohort, with valproate (n = 5) being the most frequently used. Conclusions The epilepsy types and syndromes associated with the chromosomal anomaly 47, XXY demonstrated considerable heterogeneity. Among the observed phenotypes, IESS and focal epilepsy, which displayed partial responsiveness to multiple ASMs, were the most prevalent. |
| first_indexed | 2024-03-08T15:25:22Z |
| format | Article |
| id | doaj.art-3c22fb0266e449d7a7d4851b822b44b4 |
| institution | Directory Open Access Journal |
| issn | 2162-3279 |
| language | English |
| last_indexed | 2024-03-08T15:25:22Z |
| publishDate | 2023-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Brain and Behavior |
| spelling | doaj.art-3c22fb0266e449d7a7d4851b822b44b42024-01-10T10:25:35ZengWileyBrain and Behavior2162-32792023-08-01138n/an/a10.1002/brb3.3178Clinical characterization of epilepsy in children with chromosomal aberration 47, XXYCongjie Chen0Yuanyuan Luo1Xueqing Hou2Tingsong Li3Department of Rehabilitation Children's Hospital of Chongqing Medical University (CHCMU) ChongqingChinaDepartment of Neurology Children's Hospital of Chongqing Medical University (CHCMU) ChongqingChinaDepartment of Rehabilitation Children's Hospital of Chongqing Medical University (CHCMU) ChongqingChinaDepartment of Rehabilitation Children's Hospital of Chongqing Medical University (CHCMU) ChongqingChinaAbstract Objective The phenotype of the chromosomal aberration 47, XXY exhibits considerable heterogenicity. In addition, epilepsy is extremely uncommon in individuals with this chromosomal disorder. As a result, the clinical characteristics of epilepsy in these patients remain poorly understood. Methods Clinical data and the evolution of epilepsy in a boy diagnosed with chromosomal aberration 47, XXY were collected and analyzed. Furthermore, a systematic literature review was conducted to examine the relationship between chromosomal aberration 47, XXY and epilepsy in children. Results We identified a novel phenotype associated with the chromosomal anomaly 47, XXY in a 2‐year‐2‐month‐old boy who presented with self‐limited epilepsy with autonomic seizures at onset, followed by developmental and/or epileptic encephalopathy with spike‐wave activation in sleep (D/EE‐SWAS), which was responsive to corticosteroid treatment. Including the present case, we analyzed 21 cases of children diagnosed with epilepsy due to the presence of the 47, XXY chromosomal anomaly. The most common types of epilepsy were focal combined generalized epilepsy (n = 9), epileptic spasms (n = 6), and generalized epilepsy (n = 4). There were six cases of infantile epileptic spasm syndrome (IESS) (n = 5) and developmental and epileptic encephalopathy (n = 1), one case of Lennox–Gastaut syndrome, and one case of D/EE‐SWAS. Apart from corticosteroids in IESS, 15 antiseizure medications (ASMs) were prescribed to eight children in this cohort, with valproate (n = 5) being the most frequently used. Conclusions The epilepsy types and syndromes associated with the chromosomal anomaly 47, XXY demonstrated considerable heterogeneity. Among the observed phenotypes, IESS and focal epilepsy, which displayed partial responsiveness to multiple ASMs, were the most prevalent.https://doi.org/10.1002/brb3.3178childrenepilepsyKlinefelter's syndrome47, XXY karyotype |
| spellingShingle | Congjie Chen Yuanyuan Luo Xueqing Hou Tingsong Li Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY Brain and Behavior children epilepsy Klinefelter's syndrome 47, XXY karyotype |
| title | Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY |
| title_full | Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY |
| title_fullStr | Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY |
| title_full_unstemmed | Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY |
| title_short | Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY |
| title_sort | clinical characterization of epilepsy in children with chromosomal aberration 47 xxy |
| topic | children epilepsy Klinefelter's syndrome 47, XXY karyotype |
| url | https://doi.org/10.1002/brb3.3178 |
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