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

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Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive disorder characterized by psychomotor regression and motor impairment.
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The case involves a 4-year-old girl with neurodevelopmental regression, hypotonia, and feeding difficulties, despite normal brain MRI findings.
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Whole-exome sequencing identified a homozygous PLA2G6 variant, confirming the diagnosis of PLA2G6-associated neurodegeneration.
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Normal neuroimaging does not exclude PLA2G6-associated neurodegeneration, especially in atypical presentations with severe symptoms.
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Early molecular diagnosis is crucial for timely management and genetic counseling in pediatric regression syndromes.

Frontiers In Pediatrics

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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