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.