# Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report

## TL;DR

A rare case of retinal detachment, chylothorax, and purpura fulminans in a newborn with a PAK2 gene variant highlights the need for early eye exams and genetic testing.

## Contribution

This case report highlights the rare association of PAK2 variant with retinal detachment, chylothorax, and purpura fulminans in neonates.

## Key findings

- Bilateral retinal detachment was confirmed in a neonate with congenital chylothorax and purpura fulminans.
- A PAK2 gene variant (c.1115A>T, p.(Asp372Val)) was identified as a potential genetic link.
- Early ophthalmologic assessment and genetic testing are recommended for neonates with chylothorax.

## Abstract

A potential relationship between bilateral retinal detachment, chylothorax, and purpura fulminans in a female neonate with a PAK2 gene variant is not commonly reported. This emphasizes the significance of early ophthalmologic assessment in neonates with congenital chylothorax.

A full-term female infant weighing 2.775 kg was delivered by cesarean section due to breech presentation. Prenatal imaging revealed fetal bilateral pleural effusion, suggestive of chylothorax. The neonate developed respiratory distress and purpura fulminans after birth. The absence of the red reflex in the right eye prompted a detailed ophthalmologic examination using a portable slit lamp and an indirect ophthalmoscope. The right eye revealed an ectatic pupil with posterior synechia extending from approximately 6 o'clock to 9 o'clock. Fundus examination of both eyes revealed funnel retinal detachment with multiple chronic features. A small amount of retina was draped between 4 and 7 o'clock, which may have been attached. Further ophthalmologic investigation under anesthesia, using B-scan ultrasonography and intravenous fluorescein angiography, confirmed bilateral retinal detachment. Genetic investigations revealed a PAK2 c.1115A>T, p.(Asp372Val) variant.

In addition to presenting our case report, we reviewed other recent case reports similar to ours. Retinal detachment and bilateral pleural effusions in neonates with Knobloch syndrome have been recently reported, but without purpura fulminans. Retinal detachment in neonates can result from both congenital and acquired conditions, and requires a thoughtful approach to establish the diagnosis and provide future counseling.

Bilateral retinal detachment, chylothorax, and purpura fulminans in a neonate with a PAK2 genetic variant is uncommon. This case underscores the importance of early ophthalmologic assessment and genetic testing for both neonates and their family members.

•A newborn with congenital chylothorax developed purpura fulminans after effusion drainage.•Genetic workup revealed a PAK2 variant, considered a rare occurrence.•Ophthalmological examination revealed bilateral retinal detachment.•Findings suggest early eye examinations and genetic testing in neonates with chylothorax.•Early intervention may prevent visual impairment and detect potential genetic links.

A newborn with congenital chylothorax developed purpura fulminans after effusion drainage.

Genetic workup revealed a PAK2 variant, considered a rare occurrence.

Ophthalmological examination revealed bilateral retinal detachment.

Findings suggest early eye examinations and genetic testing in neonates with chylothorax.

Early intervention may prevent visual impairment and detect potential genetic links.