Publications by authors named "Norma E de Leon Ojeda"
Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy - A case report.
Norma E de León Ojeda Fridha V Villalpando-Vargas Fabrizio A Mortola Juan C Barrera de Leon Tania P Sánchez-Murguía
SAGE Open Med Case Rep
November 2024
Article Synopsis
- Developmental and epileptic encephalopathies (DEEs) are serious conditions characterized by developmental delays and seizures that don’t respond to standard medications, often linked to specific genetic changes.
- A case study of a 9-year-old boy reveals challenges in diagnosing and treating his condition, which started with developmental delays and misdiagnosed tics, eventually recognized as epilepsy with eyelid myoclonia.
- This case highlights the importance of identifying genetic variants, suggests considering DEEs for unexplained neurodevelopmental issues, and emphasizes a personalized treatment strategy to improve patients' quality of life.
We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chromosome analysis showed 46, XY, del(4)(q31.
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