Severe respiratory complications in late-diagnosed Prader-Willi syndrome: a case report

Prader-Willi syndrome is a rare neuroendocrine genetic disorder that causes hypothalamic dysfunction, hyperphagia, and morbid obesity. Early diagnosis is critical to prevent life-threatening complications. This case report details the fatal outcome of a patient with late-diagnosed Prader-Willi syndrome, highlighting the consequences of diagnostic delay and management challenges in a low-resource setting.

A 17-year-old Asian male individual with a known diagnosis of Prader-Willi syndrome (confirmed by multiplex ligation-dependent probe amplification at age 15 years) presented to the emergency department with acute respiratory distress, generalized edema, and decreased urinary output. His medical history was significant for premature birth, hyperphagia from early childhood, morbid obesity (body mass index 40.63 kg/m²), type 2 diabetes mellitus, hypertension, and social withdrawal. Despite a prior admission 3 months earlier, where he was stabilized with noninvasive ventilation, metformin, glucagon-like peptide-1 agonists, enalapril, and dietary planning, he was lost to follow-up. On readmission, he was in severe respiratory failure (SpO₂ 46% on room air) with acidosis. Physical examination revealed tachycardia, tachypnea, cyanosis, bilateral pitting pedal edema, and crepitations on lung auscultation. Investigations confirmed severe pneumonia, metabolic acidosis, and poorly controlled diabetes. Despite aggressive interventions, including mechanical ventilation and intravenous antibiotics, the patient suffered a fatal cardiorespiratory arrest.

This case underscores that late diagnosis of Prader-Willi syndrome can lead to irreversible, fatal complications. A multidisciplinary management plan is insufficient without addressing profound socioeconomic and educational barriers that hinder its execution. The delay in diagnosis prevented life-changing interventions such as growth hormone therapy. This report emphasizes the need for early diagnosis and holistic, family centered care adapted to the patient's socioeconomic reality to prevent such adverse outcomes.