A case report of Prader-Willi syndrome in a child with metabolic disorders and severe obstructive sleep apnea treated effectively with continuous positive airway pressure.

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder associated with multiple diseases, including poor growth, genital hypoplasia, short stature, and sleep apnea syndrome (SAS). Sleep-disordered breathing is common in PWS and is often ignored by clinicians. This paper reports a patient with PWS complicated with severe obstructive sleep apnea (OSA).

Case description: A 13-year-old male patient was admitted to the hospital due to ptosis, lethargy, and weight gain. Polysomnography (PSG) showed OSA and severe hypoxemia. Imaging examination showed scoliosis. Laboratory tests suggested that the patient had metabolic dysfunction. Finally, PWS was diagnosed by chromosome karyotype and gene analysis. The patient's obesity and OSA represented contraindications to growth hormone. After continuous positive airway pressure (CPAP) treatment, the patient's sleep apnea symptoms and height were significantly improved, apnea-hypopnea index (AHI) index was significantly decreased, peripheral oxygen saturation was increased, and his height increased by 4 cm. At present, the patient has been treated with growth hormone after exclusion of contraindications.

Conclusions: This case reports a patient with PWS with severe OSA who had improved height after CPAP treatment alone. This patient's diagnosis had been delayed due to differences in medical education and medical level among the treating physicians. Timely diagnosis and treatment can improve the quality of life of children.