Congenital diarrhea is a rare disorder with a broad spectrum of differential diagnoses. Early diagnosis and treatment are essential to prevent life-threatening complications. The aim of our case series is to demonstrate the value of early genetic testing.

Neonatal skin lesions are relatively common and mostly harmless. However, extensive skin lesions at birth are rare and constitute a dermatological emergency, as they may indicate an underlying systemic disorder and are associated with several risk factors.

A diagnostic journey of a child with autism and severe food selectivity.