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September 10, 2025CureusOpen Access

Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations

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Authors

IHIldefonso Hernández‐AguadoJRJuan L. RodriguezLMLaura Morales‐Fernández

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Overview

Case report highlights unique symptoms of 15q11.2 microdeletion syndrome, including refractory epilepsy and autism, indicating a need for genetic testing.

Key Points

  • This case details a six-year-old boy with 15q11.2 microdeletion syndrome exhibiting early-onset refractory epilepsy, complicating diagnosis.
  • Genetic analysis revealed critical abnormalities in genes linked to brain function, including findings from chromosomal microarray analysis.
  • The study emphasizes the role of genetic testing in identifying rare neurodevelopmental syndromes in children facing developmental challenges.
  • The case adds to the understanding of 15q11.2 microdeletion syndrome's clinical spectrum, highlighting the complexity of multisystem manifestations.

Cite This Study

Hernández‐Aguado et al. (2025) studied this question.

synapsesocial.com/papers/68c1cc2e54b1d3bfb60f415chttps://doi.org/10.7759/cureus.90530
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Prenatal diagnosis and pregnancy outcome of fetuses with 15q11.2 BP1-BP2 microdeletion syndrome: a single-center retrospective study of 34 cases2026
  2. 2Epilepsy and Intellectual Disability in a Boy with a 2q13 Microdeletion Affecting the BUB1 Gene2026
  3. 3Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype2025
  4. 4Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study2024 · 1 citations
  5. 5A young girl with partial chromosome 15q11.2 microduplication: a case report in Cameroon2026