Acta Scientific Gastrointestinal Disorders (ASGIS)(ISSN: 2582-1091)

Case Report Volume 4 Issue 11

A Rare Occurrence of Prader Willi Syndrome in a 9-Month-Old Tanzanian Girl: A Case Report

Abdul Rafey Usmani1, Zahra D Khan2 and Clement Kabakama3*

1Department of Pediatric, University of Dodoma Teaching Hospital, Tanzania
2Department of Cardiology, TMJ Multi Specialty Hospital, Tanzania
3Department of Internal Medicine, Muhimbili University of Health and Allied Sciences, Tanzania

*Corresponding Author: Dr. Clement Kabakama, Department of Internal Medicine, Muhimbili University of Health and Allied Sciences, Tanzania.

Received: August 31, 2021; Published: October 23, 2021

×

Abstract

Prader-Willi syndrome is a disarray caused by a depletion or disruption of genes in the proximal arm of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15. In sub-sahara Africa the prevalence of Prader will syndrome is estimated to be is a rare genetic disorder with a birth incidence of 1/10,000 to 1/30,000, and an estimated prevalence of approximately 10,000 to 20,000 living individuals in the United States and Globally it is estimated to be for almost 2% of the paediatric patients with the Prader William syndrome. It affects males and females equally, as well as all races and ethnicities in Tanzania the epidemiology of Prader will syndrome is not yet to be documented and thus We report the first case being presented in sub-sahara Africa. To Our Patient since before diagnosed with (PWS) was well till the age of two months when she gradually started increasing in weight with time, as days elapsed the patient was constantly gaining weight, 2.9 kg at birth to 14 kg at 7 month. This Case Report discuss about the Rare incidence of occurrence of Prader William syndrome in Tanzania and its properly Diagnostic criteria interventions and treatment Management plan.

Keywords: Prader-Willi Syndrome; Paediatric; Tanzanian; Growth Hormone Replacement

×

References

  1. Prader A., et al. “Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter”. Schweiz Medical Journal 86 (1956): 1260-1261.
  2. Ledbetter DH., et al. “Deletions of chromosome 15 as a cause of the Prader-Willi syndrome”. The New England Journal of Medicine 6 (1981): 325-329.
  3. Holm VA., et al. “Prader-Willi syndrome: consensus diagnostic criteria”. Pediatrics Journal 91 (1993): 398-402.
  4. Cassidy SB., et al. “Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15”. American Journal of Medical Genetics 68 (1997): 433-440.
  5. Hudgins L., et al. “Phenotypic differences in African-Americans with Prader- Willi syndrome”. Genetics in Medicine 1 (1998): 49-51.
  6. Dykens EM., et al. “Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy”. American Journal on Mental Retardation 104 (1999): 67-77.
  7. Lee S and Wevrick R. “Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control”. American Journal Human Genetics 66 (2000): 848-858.
  8. Spritz RA., et al. “Hypopigmentation in the Prader-Willi syndrome correlates with, P gene deletion but not with haplotype of the hemizygous. P allele”. American Journal of Medical Genetics 71 (1997): 57-62.
  9. Gillessen-Kaesbach G., et al. “Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome”. Journal Human Genetics 96 (1995): 638-643.
  10. Chen KY., et al. “Developmental and validation of a measurement system for assessment of energy expenditure and physical activity in Prader-Willi syndrome”. Obesity Research 7 (1999): 387-394.
  11. Goldstone AP., 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”. The Journal of Clinical Endocrinology and Metabolism5 (2005): 2681-2690.
  12. Wulfsberg EA., et al. “A third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15”. Genetics Journal Medicine 2 (2000): 90-93.
  13. Gunay-Aygun M., et al. “Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15”. American Journal of Medical Genetics 71 (1997): 106-110.
  14. Reddy KS. “Clinical management of a rare de novo translocation 46, X, t (Y;15) (p11.2) approximately 11.3;q11.2). ish t (Y;15) (DYS3+, AMELY+, SNRPN+, D15Z+) found prenatally”. Prenatal Diagnosis Journal 18 (1998): 294-297.
  15. Carrel AL., et al. “Growth hormone improves body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome: a controlled study”. Journal of Pediatrics 134 (1999): 215-221.
  16. Gunay Aygun., et al. “The changing purpose of Prader -Willi Syndrome clinical diagnostic criteria and Proposed revised criteria”. Pediatrics Journal5 (2001): 5-9.
  17. Holland AJ., et al. “Recommendations for the diagnosis and management of Prader-Willi syndrome”. The Journal of Clinical Endocrinology and Metabolism 11 (2008): 83-97.
×

Citation

Citation: Clement Kabakama., et al. “A Rare Occurrence of Prader Willi Syndrome in a 9-Month-Old Tanzanian Girl: A Case Report”. Acta Scientific Gastrointestinal Disorders 4.11 (2021): 27-30.




Metrics

Acceptance rate35%
Acceptance to publication20-30 days

Indexed In




News and Events


  • Certification for Review
    Acta Scientific certifies the Editors/reviewers for their review done towards the assigned articles of the respective journals.
  • Submission Timeline for Upcoming Issue
    The last date for submission of articles for regular Issues is November 25, 2024.
  • Publication Certificate
    Authors will be issued a "Publication Certificate" as a mark of appreciation for publishing their work.
  • Best Article of the Issue
    The Editors will elect one Best Article after each issue release. The authors of this article will be provided with a certificate of "Best Article of the Issue"
  • Welcoming Article Submission
    Acta Scientific delightfully welcomes active researchers for submission of articles towards the upcoming issue of respective journals.

Contact US