Aisha Tabassum Attar*, Ryan McGill and Alex Zaharcu
Background: Niemann-Pick disease type C (NPC) is a rare lysosomal storage disorder with neurodegeneration that often leads to cardio-respiratory collapse. Diagnosis requires a high index of suspicion, as patients can present with a wide diversity of signs, symptoms, and ages of onset.
Case presentation: A 31-year-old female presented with shortness of breath, tachycardia, and tachypnea of unknown etiology. Her past medical history includes NPC with seizures, dysphagia, and pneumonia secondary to aspiration. She is on miglustat therapy. Evaluation revealed aspiration pneumonia treated with antibiotics.
Conclusion: Aspiration pneumonia was confirmed via chest X-ray and CT and treated effectively. It remains the leading cause of death in NPC patients. Miglustat may have contributed to improving her swallowing capacity and delaying neurological decline.
