Prader-Willi Syndrome Differential Diagnoses

  • Author: Ann Scheimann, MD, MBA; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Jun 8, 2011
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Ann Scheimann, MD, MBA  Associate Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution

Ann Scheimann, MD, MBA is a member of the following medical societies: North American Society for Pediatric Gastroenterology and Nutrition

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael Fasullo, PhD  Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: American Society for Biochemistry and Molecular Biology and Radiation Research Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center

Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Down JL. Mental Affections of Childhood and Youth. 1887:172.

  2. Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter. Schweiz Med Wschr. 1956;86:1260-1.

  3. Ledbetter DH, Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet. 1995;4 Spec No:1757-64. [Medline].

  4. Ledbetter DH, Riccardi VM, Airhart SD, et al. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med. Feb 5 1981;304(6):325-9. [Medline].

  5. Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. Nov 16 1989;342(6247):281-5. [Medline].

  6. Nicholls RD. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet. Apr 1 1993;46(1):16-25. [Medline].

  7. Robinson WP, Langlois S, Schuffenhauer S, et al. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn. Sep 1996;16(9):837-44. [Medline].

  8. Buiting K, Gross S, Lich C, et al. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet. Mar 2003;72(3):571-7. [Medline].

  9. Buiting K, Saitoh S, Gross S, et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet. Apr 1995;9(4):395-400. [Medline].

  10. Rinchik EM, Bultman SJ, Horsthemke B, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. Jan 7 1993;361(6407):72-6. [Medline].

  11. MacDonald HR, Wevrick R. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum Mol Genet. Oct 1997;6(11):1873-8. [Medline].

  12. Cummings DE, Clement K, Purnell JQ, et al. Elevated plasma ghrelin levels in Prader Willi syndrome. Nat Med. Jul 2002;8(7):643-4. [Medline].

  13. Haqq AM, Stadler DD, Rosenfeld RG, et al. Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. J Clin Endocrinol Metab. Aug 2003;88(8):3573-6. [Medline].

  14. Goldstone AP, Patterson M, Kalingag N, et al. Fasting and postprandial hyperghrelinemia in Prader-Willi syndrome is partially explained by hypoinsulinemia, and is not due to peptide YY3-36 deficiency or seen in hypothalamic obesity due to craniopharyngioma. J Clin Endocrinol Metab. May 2005;90(5):2681-90. [Medline].

  15. Burd L, Vesely B, Martsolf J, Kerbeshian J. Prevalence study of Prader-Willi syndrome in North Dakota. Am J Med Genet. Sep 1990;37(1):97-9. [Medline].

  16. Butler MG. Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns. Am J Med Genet. Jan 11 1996;61(2):188-90. [Medline].

  17. Akefeldt A, Gillberg C, Larsson C. Prader-Willi syndrome in a Swedish rural county: epidemiological aspects. Dev Med Child Neurol. Aug 1991;33(8):715-21. [Medline].

  18. Ehara H, Ohno K, Takeshita K. Frequency of the Prader-Willi syndrome in the San-in district, Japan. Brain Dev. Sep-Oct 1995;17(5):324-6. [Medline].

  19. Whittington JE, Holland AJ, Webb T, et al. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. J Med Genet. Nov 2001;38(11):792-8. [Medline].

  20. Lamb AS, Johnson WM. Premature coronary artery atherosclerosis in a patient with Prader-Willi syndrome. Am J Med Genet. Dec 1987;28(4):873-80. [Medline].

  21. Wharton RH, Wang T, Graeme-Cook F, et al. Acute idiopathic gastric dilation with gastric necrosis in individuals with Prader-Willi syndrome. Am J Med Genet. Dec 31 1997;73(4):437-41. [Medline].

  22. Stevenson DA, Heinemann J, Angula M, et al. Gastric Rupture and Necrosis in Prader-Willi Syndrome. J Pediatr Gastroenterol Nutr. 2007;45:272-4. [Medline].

  23. Stevenson DA, Heinemann J, Angulo M, et al. Deaths due to choking in Prader-Willi syndrome. Am J Med Genet A. Mar 1 2007;143(5):484-7. [Medline].

  24. Stevenson Da, Anaya TM, Clayton-Smith J, et al. Unexpected Death and Critical Illness in Prader-Willi Syndrome: Report of Ten Individuals. Amer J Med Genet A. 2004;124A:158-64. [Medline].

  25. Hudgins L, Geer JS, Cassidy SB. Phenotypic differerencss in African Americans with Prader-Willi syndrome. Genet Med. Nov-Dec 1998;1(1):49-51. [Medline].

  26. Cassidy SB, Schwartz S. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine (Baltimore). Mar 1998;77(2):140-51. [Medline].

  27. Lee PD. Endocrine and metabolic aspects of Prader-willi syndrome. In: Greenswag LR, Alexander RC, eds. Management of Prader-willi Syndrome. 2nd ed. New York, NY: Springer-Verlag; 1995:32-57.

  28. Kaplan J, Fredrickson PA, Richardson JW. Sleep and breathing in patients with the Prader-Willi syndrome. Mayo Clin Proc. Nov 1991;66(11):1124-6. [Medline].

  29. Martin A, State M, Koenig K, et al. Prader-Willi syndrome. Am J Psychiatry. Sep 1998;155(9):1265-73. [Medline].

  30. Dykens EM, Hodapp RM, Walsh K, Nash LJ. Profiles, correlates, and trajectories of intelligence in Prader-Willi syndrome. J Am Acad Child Adolesc Psychiatry. Nov 1992;31(6):1125-30. [Medline].

  31. Soni S, Whittington J, Holland AJ, et al. The Phenomenology and Diagnosis of Psychiatric Illness in People with Prader-Willi Syndrome. Psychol Med. 2008;38:1505-14. [Medline].

  32. Greenswag LR. Adults with Prader-Willi syndrome: a survey of 232 cases. Dev Med Child Neurol. Apr 1987;29(2):145-52. [Medline].

  33. [Guideline] Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. Feb 1993;91(2):398-402. [Medline].

  34. Gurd AR, Thompson TR. Scoliosis in Prader-Willi syndrome. J Pediatr Orthop. 1981;1(3):317-20. [Medline].

  35. ASHG/ACMG Test and Technology Transfer Committee. Diagnostic testing for Prader-Willi and Angleman syndromes. Am J Hum Genet. May 1996;58(5):1085-8. [Medline].

  36. 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. [Medline].

  37. O'Donoghue FJ, Camfferman D, Kennedy JD, et al. Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities. J Pediatr. Dec 2005;147(6):832-9. [Medline].

  38. Schluter B, Buschatz D, Trowitzsch E, et al. Respiratory control in children with Prader-Willi syndrome. Eur J Pediatr. Jan 1997;156(1):65-8. [Medline].

  39. Reychler A. [Cephalometric analysis]. Acta Stomatol Belg. 1976;73(4):403-21. [Medline].

  40. West LA, Ballock RT. High Incidence of Hip Dysplasia but not Slipped Capital Femoral Epiphysis in Patients With Prader-Willi Syndrome. J Pediatr Orthop. 2004;24:565-7. [Medline].

  41. Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J Clin Endcrinol Metabo. Feb 2006;91(2):413-7. [Medline].

  42. Pandey SN, Vaidya RA, Irani A. Growth hormone treatment in a girl with Prader Willi syndrome. Indian J Pediatr. Apr 2003;70(4):351-3. [Medline].

  43. Soper RT, Mason EE, Printen KJ, Zellweger H. Gastric bypass for morbid obesity in children and adolescents. J Pediatr Surg. Feb 1975;10(1):51-8. [Medline].

  44. Scheimann AO, Butler MG, Gourash L, Cuffari C, Klish W. Critical Analysis of Bariatric Procedures in Prader-Willi Syndrome. J Pediatr Gastroenterol Nutr. 2008;46:80-3. [Medline].

  45. Bistrian BR, Blackburn GL, Stanbury JB. Metabolic Aspects of a Protein-Sparing Modified Fast in the Dietary Management of Prader-Willi Obesity. N Eng J Med. 1977;296:774-9. [Medline].

  46. Miller JL, Lynn CH, Driscoll DC, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. May 2011;155(5):1040-9. [Medline].

  47. Coppes MJ, Sohl H, Teshima IE, et al. Wilms tumor in a patient with Prader-Willi syndrome. J Pediatr. May 1993;122(5 Pt 1):730-3. [Medline].

  48. Jaffray B, Moore L, Dickson AP. Prader-Willi syndrome and intratubular germ cell neoplasia. Med Pediatr Oncol. Jan 1999;32(1):73-4. [Medline].

  49. Nakajima K, Sakurai A, Kubota T, et al. Multiple endocrine neoplasia type 1 concomitant with Prader-Willi syndrome: case report and genetic diagnosis. Am J Med Sci. May 1999;317(5):346-9. [Medline].

  50. Hall BD. Leukaemia and the Prader-Willi syndrome. Lancet. Jan 5 1985;1(8419):46. [Medline].

 
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