New filamin A gene mutation identified in X‐linked pediatric intestinal pseudo‐obstruction: A case report

Abstract

Pediatric intestinal pseudo‐obstruction (PIPO) represents a severe gut motility disorder leading to digestive complications with high morbidity and mortality. Neonates and young children present symptoms mimicking intestinal occlusion, leading to surgery and long‐term feeding support. The multifactorial etiologies of PIPO make the diagnosis particularly challenging. Most cases are congenital, with only a few genetic forms. Recent genetic research has identified mutations, including those in the filamin A gene (FLNA), contributing to primary X‐linked PIPO and associated syndromes. FLNA deficiency includes abnormal neuronal migration, cardiac disorders, and digestive problems ranging from severe constipation to chronic intestinal pseudo‐obstruction. We report the case of an 8‐day‐old newborn diagnosed with X‐linked PIPO due to a new FLNA mutation who did not present other associated syndromic phenotypes.