PP29. CASE: PRADER-WILLI SYNDROME
Dr SUKRU OZTURK1, Dr İlhan Satman2, Dr Davut Pehlivan3, Dr Kivanc Cefle1, Dr Sukru Palanduz1, Dr Nilgun Duman4 1. İstanbul University, İstanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Şehremini, Fatih, İstanbul, Türkiye 2: İstanbul University, İstanbul Medical Faculty, Department of Internal Medicine, Division of Endocrinology and Metabolism, Şehremini, Fatih, İstanbul, Türkiye 3: İstanbul University, İstanbul Medical Faculty, Department of Medical Genetics, Şehremini, Fatih, İstanbul, Türkiye 4: Ministery of Health, İstanbul İl Sağlık Müdürlüğü, Eminönü, İstanbul e-mail: sozturk@istanbul.edu.tr
*Corresponding Author:
page: 60

Abstract

Prader-Willi syndrome is a chromosomal disorder characterized with obesity, mental retardation, short stature, small hands and feet and caused by deletion of chromosomal region of 15q.11-q13. Case: A 27 year-old-female patient presented with obesity, mental retardation, ulcers on the feet and hyperphagia. The patient was born by vaginal delivery (birth weight: 2800 grams), there were some feeding difficulties till 3 years old, after which obesity and hyperphagia developed. The parents were not consanguineous. Abnormal clinial findings: 128 kgs weight, 145 cms height (BMI:68.96). Pretibal minimal oedema (+) and bitemporal narrowing were noted. Breast development was Taner stage 2-3. Small hands and feet were detected. Laboratory findings: WBC and biochemical parameters were all in normal ranges except hyperglycemia. Hb A1c: 8.0 (4.8-6.5 %). Endocrinological investigations revealed hypogonadotrophic hypogonadism. Karyotype was established as 46,XX,del(15)(q11.2q13). The result was verified by FISH analysis with PWS/AS specific probe (SNRNP, Aappligene-Oncor). Differantial diagnosis of patients presenting with obesity and mental retardation should include Prader-Willi syndrome; we suggest that conventional chromosomal analysis and FISH analysis should be performed in such patients.




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