Neuroimaging and ophthalmology revealed TSC features; chromosomal microarray identified an ∼882-kb 16p13.3 deletion encompassing <i>TSC2</i>/<i>PKD1</i>, diagnosing PKDTS.<h4>Conclusions</h4>PKDTS may manifest in childhood as an eAML rupture. Here, PKD1 is linked to autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis.