Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome.

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This case report shows that when a child with a 16p11.2 deletion has medical symptoms that don’t fully fit the expected pattern—such as severe low blood sugar from hyperinsulinism—it’s important to consider that a second genetic condition may also be present, helping families and clinicians recognize the value of comprehensive genetic testing and not assuming all symptoms stem from 16p11.2 alone.