CLN2 Batten disease diagnosed via newborn genome screening

To describe the presymptomatic identification of neuronal ceroid lipofuscinosis type 2 (CLN2) through genome-based newborn screening (NBS) and the confirmatory clinical, molecular, and biochemical evaluations that followed. A 6-month-old full-term female identified through postnatal genome-based NBS in the Genomic Uniform screening Against Rare Diseases In All Newborns study underwent metabolic genetics evaluation, parental variant testing, TPP1 enzyme activity testing in dried blood spots and peripheral blood leukocytes, neurological examination, and brain magnetic resonance imaging.