Frontiers in Pediatrics · 8 authors, 5 centres
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A female neonate developed purpura fulminans following drainage of congenital chylothorax, attributed to transient loss of protein C, S, and antithrombin factors, which resolved with fresh frozen plasma transfusion. The neonate also developed bilateral retinal detachment and carried a PAK2 gene variant, a novel association not previously reported.
This case report describes a female neonate with congenital chylothorax who developed purpura fulminans after chylothorax drainage, a previously unreported sequence. Skin manifestations coincided with low activity levels of protein C, S, and antithrombin, consistent with transient loss of coagulation factors into the drained fluid. Purpuric lesions resolved after fresh frozen plasma transfusion, and antithrombotic factor levels normalized with no recurrence. Genetic testing revealed a PAK2 gene variant and excluded mutations in PROC, PROS, and SERPINC1 genes. The neonate subsequently developed bilateral retinal detachment, an unprecedented finding in this context, which may relate to PF-associated thrombosis or possibly familial exudative vitreoretinopathy. The authors suggest vigilant coagulation monitoring and prophylactic FFP replacement during chylothorax drainage.
