Neurodevelopmental regression Due to PLA2G6-associated neurodegeneration despite normal brain MRI: a case report - Summary - MDSpire

Neurodevelopmental regression Due to PLA2G6-associated neurodegeneration despite normal brain MRI: a case report

  • By

  • Andrea Milena Rodríguez-Guerrero

  • Alexandra Romero Valdez

  • Marjorie Rodríguez-Guerrero

  • Jhoana Piedra Duran

  • Eduardo Flores

  • Jorge Vasconez-Gonzalez

  • Juan S. Izquierdo-Condoy

  • Esteban Ortiz-Prado

  • June 30, 2026

  • 0 min

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Objective:

To report a case of a child with progressive neurodevelopmental regression and a homozygous PLA2G6 variant despite normal brain MRI findings.

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Key Findings:
  • The patient exhibited severe motor regression and bulbar dysfunction despite normal brain MRI.
  • A homozygous PLA2G6 variant was identified, confirming the diagnosis of PLA2G6-associated neurodegeneration.
  • Normal neuroimaging does not exclude the diagnosis of PLA2G6-associated neurodegeneration in atypical presentations.
Interpretation:

This case emphasizes the need for early molecular diagnosis in pediatric regression syndromes and the potential for severe neurological decline to occur before detectable MRI abnormalities.

Limitations:
  • The case is based on a single patient, limiting generalizability.
  • Long-term outcomes and the progression of symptoms were not detailed.
Conclusion:

Early genomic testing should be considered in children with progressive developmental regression, even with normal neuroimaging, to facilitate timely management and genetic counseling.

Original Source(s)

Neurodevelopmental regression Due to PLA2G6-associated neurodegeneration despite normal brain MRI: a case report

  • by Andrea Milena Rodríguez-Guerrero, Alexandra Romero Valdez, Marjorie Rodríguez-Guerrero, Jhoana Piedra Duran, Eduardo Flores, Jorge Vasconez-Gonzalez, Juan S. Izquierdo-Condoy, Esteban Ortiz-Prado

  • June 30, 2026

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