Acute pancreatitis in a young girl with the Netherton syndrome

A 14-year-old girl with symptoms and signs of severe acute pancreatitis was admitted to our department. A diagnostic workup could not reveal any common known cause of pancreatitis, and the cause of pancreatitis would most likely be considered idiopathic. However, based on recent reports regarding various pathophysiological mechanisms for both acute pancreatitis and the Netherton syndrome (eg, shearing the 5q locus for the respective gene-associated defects in SPINK1 and SPINK5), we speculate if a possible association may exist. Investigations on pancreatitis and the Netherton syndrome may disclose factors closely involved in the pathomechanisms of both. This notion may be of clinical importance as it adds to the number of potential life-threatening events to patients with the Netherton syndrome.