Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report
Developmental and epileptic encephalopathies (DEEs), such as SYNGAP1 -related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants. This case report focuses on a 9-year-old male with a de novo SYNGAP1 variant (c.1267del, p.Tyr423Metfs*17), i...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2024-11-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X241302964 |
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| author | Norma E de León Ojeda Fridha V Villalpando-Vargas Fabrizio A Mortola Juan C Barrera de Leon Tania P Sánchez-Murguía Jonathan A Cisneros-Orozco Alioth Guerrero-Aranda |
| author_facet | Norma E de León Ojeda Fridha V Villalpando-Vargas Fabrizio A Mortola Juan C Barrera de Leon Tania P Sánchez-Murguía Jonathan A Cisneros-Orozco Alioth Guerrero-Aranda |
| author_sort | Norma E de León Ojeda |
| collection | DOAJ |
| description | Developmental and epileptic encephalopathies (DEEs), such as SYNGAP1 -related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants. This case report focuses on a 9-year-old male with a de novo SYNGAP1 variant (c.1267del, p.Tyr423Metfs*17), illustrating the diagnostic and treatment challenges. Initially experiencing developmental delays and later, misdiagnosed tics, he was diagnosed with epilepsy with eyelid myoclonia at seven. His case includes key SYNGAP1 encephalopathy symptoms: intellectual disability, behavioral issues, and generalized epilepsy resistant to antiseizure medication. The identification of a specific variant adds to our knowledge, suggesting the necessity of considering SYNGAP1 -related DEE for unexplained neurodevelopmental delays and seizures. This case underlines the need for a personalized treatment approach focusing on quality of life and symptom management, advancing our understanding and treatment practices for genetic developmental and epileptic encephalopathy. |
| format | Article |
| id | doaj-art-fd1d83a9336a40fdb91cf16847752cd3 |
| institution | Kabale University |
| issn | 2050-313X |
| language | English |
| publishDate | 2024-11-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj-art-fd1d83a9336a40fdb91cf16847752cd32024-11-26T19:03:42ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2024-11-011210.1177/2050313X241302964Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case reportNorma E de León Ojeda0Fridha V Villalpando-Vargas1Fabrizio A Mortola2Juan C Barrera de Leon3Tania P Sánchez-Murguía4Jonathan A Cisneros-Orozco5Alioth Guerrero-Aranda6Epilepsy Clinic, Hospital “Country 2000” Guadalajara, Jalisco, MéxicoUniversity of Guadalajara, “Los Valles University Center” Ameca, Jalisco, MéxicoNeurosurgery Department, Hospital “Fray A. Alcalde” Guadalajara, Jalisco, MéxicoUniversity of Guadalajara, “Los Valles University Center” Ameca, Jalisco, MéxicoUniversity of Guadalajara, “Health Sciences University Center” Guadalajara, Jalisco, MéxicoEpilepsy Clinic, Hospital “Country 2000” Guadalajara, Jalisco, MéxicoUniversity of Guadalajara, “Los Valles University Center” Ameca, Jalisco, MéxicoDevelopmental and epileptic encephalopathies (DEEs), such as SYNGAP1 -related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants. This case report focuses on a 9-year-old male with a de novo SYNGAP1 variant (c.1267del, p.Tyr423Metfs*17), illustrating the diagnostic and treatment challenges. Initially experiencing developmental delays and later, misdiagnosed tics, he was diagnosed with epilepsy with eyelid myoclonia at seven. His case includes key SYNGAP1 encephalopathy symptoms: intellectual disability, behavioral issues, and generalized epilepsy resistant to antiseizure medication. The identification of a specific variant adds to our knowledge, suggesting the necessity of considering SYNGAP1 -related DEE for unexplained neurodevelopmental delays and seizures. This case underlines the need for a personalized treatment approach focusing on quality of life and symptom management, advancing our understanding and treatment practices for genetic developmental and epileptic encephalopathy.https://doi.org/10.1177/2050313X241302964 |
| spellingShingle | Norma E de León Ojeda Fridha V Villalpando-Vargas Fabrizio A Mortola Juan C Barrera de Leon Tania P Sánchez-Murguía Jonathan A Cisneros-Orozco Alioth Guerrero-Aranda Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report SAGE Open Medical Case Reports |
| title | Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report |
| title_full | Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report |
| title_fullStr | Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report |
| title_full_unstemmed | Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report |
| title_short | Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report |
| title_sort | unveiling a de novo variant clinical progression and management challenges in a case of developmental and epileptic encephalopathy a case report |
| url | https://doi.org/10.1177/2050313X241302964 |
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