Symptom 8: Swallowing Difficulties: An Overlooked Challenge of Neuronal Ceroid Lipofuscinosis
Swallowing difficulties, also known as dysphagia, are a less known but significant symptom of Neuronal Ceroid Lipofuscinosis. Dysphagia can manifest as trouble swallowing food, drink, or saliva, coughing or choking during meals, or the sensation of food being stuck in the throat.
Initially, these difficulties might appear as subtle changes in eating behaviours. A child might eat slowly, prefer softer foods, or avoid eating altogether. These minor changes might be misinterpreted as picky eating, a phase, or lack of appetite.
However, as NCL advances, swallowing difficulties can become more problematic. The child might consistently choke while eating, lose weight, or develop recurrent respiratory infections due to food particles entering the lungs, a condition known as aspiration pneumonia.
The root cause of dysphagia in NCL is the damage caused to the areas of the brain controlling the complex process of swallowing. As the disease progresses and lipofuscins continue to accumulate, the coordination between the various muscles involved in swallowing gets impaired, resulting in dysphagia. (8)
