Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and...

DICER1 syndrome is a rare autosomal dominant cancer predisposition syndrome caused by germline mutations in the DICER1 gene and several associated benign and malignant entities. This case describes a premature 8-day old neonate prenatally diagnosed with renal and cystic lung abnormalities who died from severe respiratory dysfunction. Autopsy additionally revealed ETMR and genitourinary abnormalities, leading to the diagnosis of probable DICER1 syndrome. While the family declined postmortem genetic testing, detailed postmortem examination led to important diagnoses capable of guiding clinical follow-up and future family planning.