Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes.
Rachel Guest, John Van Arnam, Darryl Kinnear et al.
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Case in brief
A premature neonate, aged 8 days, had been diagnosed prenatally with renal and cystic lung abnormalities and died from severe respiratory dysfunction. Autopsy identified a CNS embryonal tumor with multilayered rosettes (ETMR), along with genitourinary abnormalities and lung lesions described in the title as CPAM type IV/type I pleuropulmonary blastoma. These findings supported a diagnosis of probable DICER1 syndrome. The family declined postmortem genetic testing, so the diagnosis remained suspected rather than genetically confirmed.
What made this case unusual
The combination of cystic lung and renal abnormalities with ETMR and genitourinary findings raised suspicion for DICER1 syndrome in a neonate, despite the absence of genetic confirmation.
Diagnostic / clinical pearl
When a neonate has cystic lung and renal abnormalities, a detailed postmortem examination may reveal additional tumors or genitourinary findings that support a suspected cancer-predisposition syndrome.
Why it matters
Even without postmortem genetic testing, the diagnoses may inform clinical follow-up and future family planning.