Persistent Feed Intolerance -Harbinger of Underlying Novel MYH11 Mutation and Visceral Myopathy Type2

Feed intolerance is a common clinical concern in preterm neonates. These infants are expected to outgrow this phase but may require varying degrees of pharmacological and non-pharmacological support. In rare cases, feed intolerance may be linked to a surgical condition and could involve an underlying genetic mutation. In such instances, managing these infants poses unique challenges. We report a clinical case of feeding intolerance, congenital hypertrophic pyloric stenosis, intestinal dysmotility, cryptorchidism, and thickened skin in a preterm neonate associated with a novel mutation in the MYH11 gene. This preterm infant presented with feeding intolerance initially attributed to congenital hypertrophic pyloric stenosis. Following surgery, he continued to experience feeding intolerance despite receiving nutrition through a jejunostomy tube, raising concerns about a potential functional obstruction. This intestinal dysmotility was genetically confirmed due to a mutation in the myosin heavy chain (MYH11 gene).