Infantile Neuroaxonal Dystrophy: Clinical Case
DOI:
https://doi.org/10.46531/sinapse/CC/149/2025Keywords:
Child, Neuroaxonal Dystrophies/genetics, Neurodegenerative Diseases/geneticsAbstract
Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder caused by mutations in the PLA2G6 gene and is part of the neurodegeneration with brain iron accumulation disease group. We present the case of a three-year-old male with a six-month history of neurodevelopmental regression, including motor and speech regression. Brain magnetic resonance imaging (MRI) revealed characteristic findings such as claval hypertrophy and symmetrical cerebellar atrophy, prompting targeted genetic testing which confirmed a compound heterozygous mutation in the PLA2G6 gene. This case emphasizes the importance of integrating clinical, imaging, and genetic findings for the early diagnosis of infantile neuroaxonal dystrophy, highlighting the critical role of pathognomonic MRI features.
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Copyright (c) 2026 Filipa Alveirinho, Inês Noites, Carla Conceição, Ana Luísa Rodrigues, Eulália Viveiros
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