Decoding the Neurodevelopment and Seizure Puzzle: A Pediatric Case of DYRK1A Gene Mutation and Autosomal Dominant Mental Retardation Type 7.
| Autor: | Aldoseri AA; Pediatrics, Bahrain Defense Force Hospital, Riffa, BHR., Buhaza RN; Pediatrics, Bahrain Defense Force Hospital, Riffa, BHR., Jadah RHS; Paediatrics and Child Health, Bahrain Defense Force Hospital, Riffa, BHR. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 Apr 02; Vol. 16 (4), pp. e57460. Date of Electronic Publication: 2024 Apr 02 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.57460 |
| Abstrakt: | Autosomal Dominant Mental Retardation Type 7 is a disorder caused by pathogenic variants in the DYRK1A gene. Clinical features associated with this gene mutation include focal dysmorphism, developmental delay, and epilepsy. In this report, we present a case of an 8-year-old boy with a DYRK1A gene mutation, whose clinical manifestations underscore the rarity and clinical challenges of this genetic condition. The patient is a known case of global developmental delay with intractable epilepsy on multiple anti-epileptic medications. Upon examination, the patient showed delayed developmental milestones, hypotonia with brisk deep tendon reflexes, as well as dysmorphic features in the form of microcephaly, deep-set eyes, prominent ears, and a short nose. MRI was done, and findings were suggestive of a DYRK1A gene mutation. The diagnosis was later confirmed by Whole Exome Sequencing (WES). Our report aims to contribute to the growing knowledge about DYRK1A mutations, facilitating a better understanding of the associated clinical features and implications for patient care. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2024, Aldoseri et al.) |
| Databáze: | MEDLINE |
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