Neurodevelopmental regression Due to PLA2G6-associated neurodegeneration despite normal brain MRI: a case report
Andrea Milena Rodríguez-Guerrero1, Alexandra Romero Valdez2, Marjorie Rodríguez-Guerrero2
1Universidad de Las Américas, Quito, Ecuador.
Frontiers in Pediatrics
|July 15, 2026
Summary
Infantile neuroaxonal dystrophy, a neurodegenerative disorder, can be diagnosed with genetic testing even with normal brain imaging. Early diagnosis of PLA2G6-associated neurodegeneration is crucial for management and family counseling.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Infantile neuroaxonal dystrophy (INAD) is a rare, autosomal recessive neurodegenerative disorder.
- It is part of the PLA2G6-associated neurodegeneration (PLAN) spectrum.
- INAD typically presents with early psychomotor regression, motor impairment, and neuroimaging abnormalities.
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