Conclusion
PAM is rarely diagnosed in children, especially under 5 years old and this may be related to the lack of obvious clinical symptoms and imaging features. Our patient was diagnosed by identifying two novel gene mutations which expanded the spectrum of genetic mutations in PAM, however, no specific genotype-phenotype could be concluded and a larger population review or further investigations are needed. This unique case could help us to further explore the mechanism of PAM and emphasize the role of gene analysis in diagnosing rare pediatric diseases.