A 29-year-old woman with diabetes mellitus was admitted to our hospital for severe congestive heart failure. She was suspected of having Prader–Willi syndrome (PWS) or Angelman syndrome. On admission, a chest X-ray showed pneumonia and cardiomegaly with massive pleural and pericardial effusion. Obstructive and central sleep apnea syndrome was suggested, because of severe obesity and episodes of apnea without breathing and movement of the rib cage. The causes of central sleep apnea syndrome include pneumonia, hypoxia, and high metabolic production of an anticonvulsant drug because of epileptic seizure, and she had an abnormal electroencephalogram. She went on to mechanical ventilation (for example BiPAP, CPAP, and SIMV) and treatment with antibiotics. She continued to receive pressure support ventilation and antiepileptic drug treatment, and her systemic condition improved markedly after transfer to another hospital. She was finally diagnosed as PWS by genetic testing. Unfortunately, she died suddenly after choking on a sputum clog 5 months after discharge from the hospital.
Prader–Willi syndrome Obstructive sleep apnea Central sleep apnea
This is a preview of subscription content, log in to check access.
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. Deletions of chromosome 15 as cause of the Prader–Willi syndrome. N Eng J Med. 1981;304:325–9.CrossRefGoogle Scholar
Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader–Willi syndrome. Nature. 1989;342:281–5.PubMedCrossRefGoogle Scholar
Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA. Angelman and Prader–Willi syndromes share a common chromosome 15 deletion but differ in paternal origin of the deletion. Am J Med Genet. 1989;32:829–38.CrossRefGoogle Scholar
Williams CA, Gray BA, Hendrickson JE, Stone JW, Cantu ES. Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons. Am J Med Genet. 1989;32:339–45.PubMedCrossRefGoogle Scholar
Tauber M, Diene G, Molinas C, et al. Review of 64 causes of death in children with Prader–Willi syndrome. Am J Med Genet A. 2008;146:881–7.PubMedCrossRefGoogle Scholar
Fan Z, Greenwood R, Fisher A, et al. Characteristics and frequency of seizure disorder in 56 patients with Prader–Willi syndrome. Am J Med Genet A. 2009;149:1581–4.CrossRefGoogle Scholar
Sinnema M, Maaskant MA, van Schrojenstein Lantman-de Valk HMJ et al. Physical health problems in adults with Prader–Willi syndrome. Am J Med Genet Part A 2011; 155:2112–2124.Google Scholar
Kubota T, Das S, Christian SL, et al. Methylation-specific PCR simplifies imprinting analysis. Nat Genet. 1997;16:16–7.PubMedGoogle Scholar
Nicholls RD, Satioh S, Horshtemke B, et al. Imprinting in Prader–Willi and Angelman syndromes. Trends Genet. 1998;14:194–200.PubMedCrossRefGoogle Scholar
Wang PJ, Hou JW, Sue WC, et al. Electroclinical characteristics of seizures-comparing Prader–Willi syndrome with Angelman syndrome. Brain Dev. 2005;27:101–7.PubMedCrossRefGoogle Scholar
Festen DA, de Weerd AW, van den Bossche RA, et al. Sleep-related breathing disorders in prepubertal children with Prader–Willi syndrome and effects of growth hormone treatment. J Clin Endocrinol Metab. 2006;91:4911–5.PubMedCrossRefGoogle Scholar
Goldstone AP, Holland AJ, Hauffa BP, et al. Recommendations for the diagnosis and management of Prader–Willi syndrome. J Clin Endocrinol Metab. 2008;93:4183–97.PubMedCrossRefGoogle Scholar