Quando il reflusso è troppo ostinato

A 5-month-old infant with daily food vomiting and poor growth—initially attributed to infections and treatment-resistant gastroesophageal reflux—was evaluated for suspected metabolic disease. Laboratory tests revealed hepatomegaly, bilateral nephrocalcinosis, elevated transaminases, hyperammonemia, hypercalcemia with normal PTH, and lactic acidosis, along with a history of neonatal hypoglycemia. Glucose monitoring confirmed true hypoglycemia, pointing toward glycogen storage disease type 1. Management included frequent feeds every two hours, maltodextrins, continuous nighttime enteral nutrition, and potassium citrate. The emergence of fluctuating neutropenia also necessitated a haematological evaluation due to the risk of complications—such as neutropenia or impaired neutrophil function leading to recurrent bacterial infections—underscoring the importance of further investigating seemingly common symptoms like vomiting and slowed growth.