Variable Expressivity in Johanson-Blizzard Syndrome: A Case With Severe Manifestations and a Review of the Literature

Johanson-Blizzard syndrome (JBS) is an exceedingly rare, autosomal recessively inherited disorder. It affects both males and females equally. Exocrine pancreatic insufficiency is the most common finding of the syndrome. The clinical presentation varies significantly among cases.

A 6-month-old infant was referred due to persistent diarrhea and failure to gain weight. The diagnosis of JBS was made based on family history and medical investigations; pancreatic enzymes (Pancreatin) were the first line of therapy besides the fluids, blood transfusions, and vitamins. The exact cause of death remains unclear.

This case highlights the severe systemic nature of JBS. Early recognition and comprehensive management are crucial for improving outcomes.