A Grain of Normality

Abstract

This case reports highlights of the feeding problems in Marshall-Smith syndrome and the weaning from a tube in a 5-year-old patient. The patient, Maya, showed the typical signs of this rare disease. The diagnosis of Marshall-Smith syndrome was made at the age of 2½ years. Because of respiratory problems and a high risk of aspiration, Maya got a percutaneous endoscopic gastrostomy (PEG) tube at the age of 5 months. After stabilization of her respiratory situation, Maya was able to eat from a strictly medical point of view. Maya was admitted to the authors’ ward dependent on a PEG tube, but her parents wanted her to be weaned from the tube. In contrast to other patients with Marshall-Smith syndrome, Maya’s typical respiratory problems stabilized, and on the basis of the little experience published in the literature, Maya seems to have a relatively good life expectancy. After careful analysis of her medical state, Maya was integrated into the specialized tube-weaning program. Tube weaning was successful, and after 3 weeks of treatment, Maya was able to gain weight by exclusive and self-regulated oral intake. In conclusion, this case report shows that weaning a child with Marshall-Smith syndrome from a feeding tube is possible and gives these children the chance to gain weight by oral intake, as any healthy child does. The reachable eating skills depend on the grade of disability. In the authors’ clinical experience, weaning from a tube shows a positive effect on psychomotor development and reduces the mortality rate and the rate of complications associated with tube feeding itself.