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ABSTRACT
Hyaline Fibromatosis Syndrome (HFS) is an uncommon autosomal recessive disorder characterized by progressive deposition of hyaline material across multiple organ systems. In infants, the presentation may be subtle initially, but progression often leads to significant gastrointestinal complications. This case highlights a 5-month-old infant presenting with severe refractory diarrhoea, profound feeding difficulty, failure to thrive, and E. coli urosepsis. Conventional management failed, prompting the introduction of a structured gut-directed nutritional therapy involving semi-elemental feeds, osmotic load reduction, and carefully titrated fluid-electrolyte management. The infant demonstrated marked improvement, emphasizing the importance of aligning nutritional strategies with the underlying mucosal pathology in HFS.
Keywords: Hyaline Fibromatosis Syndrome; Refractory Diarrhoea; Gut-Directed Nutritional Therapy; Semi-Elemental Feeding; Infant Nutrition; Gastrointestinal Manifestations