Dismorfik yüz görünümü, neonatal hipotonisitesi ve beslenme problemi olan olguda erken dönem Prader Willi sendromu tanısı
Öz
Özet
Prader Willi Sendromu (PWS), paternal 15. kromozomun uzun kolunun proksimal bölgesinin (15q11-13) delesyonu, bu bölgenin maternal uniparental dizomisi yada yeniden düzenlenmesi ile meydana gelir. Genellikle neonatal dönemde hipotoni, beslenme güçlüğü, karakteristik kraniofasial görünüm ve hipogonadotropik hipogonadizm ile karakterizedir. Çocukluk döneminde ise gelişme geriliği, mental retardasyon ve obezite dikkat çekmektedir. Yazımızda, dismorfik yüz görünümü, neonatal hipotonisite ve beslenme problemi olan 9 aylık bir erkek olgu sunulmaktadır. Klinik bulguları PWS ile uyumlu olgumuzda karyotip ve Floresan insitu hibridizasyon (FISH) (15q11-13 bölgesi için spesifik) analizi yapılmıştır. Karyotip analizi normal bulunan olguda, FISH analizinde 15q11-13 gen bölgesinde delesyon saptanmıştır. Aile, PWS'nin ileri yaşlarda görülebilecek patolojileri (gelişme geriliği, zeka geriliği, obezite, hipogonadizm) yönünden uyarılmış ve genetik danışma almıştır. Dismorfik yüz görünümü ile birlikte neonatal hipotonisitesi ve beslenme problemi bulunan olgularda, PWS tanısının mutlaka düşünülmesi gerektiği ve tanı için FISH analizinin önemi olgumuzla bir daha ortaya konmuştur.
Anahtar sözcükler: Prader Willi Sendromu, erken tanı, FISH
Abstract
Prader Willi syndrome (PWS) is due to a paternal deletion of the long arm of chromosome 15 (15q11-13), maternal uniparental dysomy or chromosomal rearrangement of this region. It is usually characterized by central hypotonia and feeding problems during the neonatal period, characteristic craniofacial appearance and hypogonadotrophic hypogonadism. Developmental delay, mental retardation and obesity can be observed during the childhood years. In our manuscript, we present a 9 month-old male with dysmorphic facial appearance, neonatal hypotonia and feeding difficulties. Since the phenotype was suggestive of PWS, we performed Fluorescence in situ Hybridization (FISH) analysis (specific for 15q11-13 region) along with routine karyotype. The case whose routine karyotype was found as normal, had a deletion in 15q11-13 region in FISH analysis. During genetic counseling, the family was informed about the future aspects (developmental delay, mental retardation, obesity, hypogonadism) of PWS. Our case represents the importance of diagnosis of PWS in early diagnosis with dysmorphic facial appearance, neonatal hypotonia and feeding difficulty findings and emphasizes the possible role of the FISH analysis for diagnosis.
Keywords: Prader Willi Syndrome, early diagnosis, FISH
Anahtar Kelimeler
Kaynakça
- Baltimore, MD, Johns Hopkins University, ONLINE MENDELIAN INHERITENCE IN MAN (OMIM). Prader Willi Sendromu (MIM#176270), http://www.ncbi.nlm.nih.gov/omim/ (accessed on February 24, 2011)
- Nussbaum LR, Malnnes RR, Willard HF, Boerkoel CF. Thompson and Thompson genetics in medicine. 6th ed. Philadelphia: WB Saunders, 2001, pp.137-8
- Richer LP, Shevell MI, Miller SP. Diagnostic profile of neonatal hypotonia: an 11-year study. Pediatr Neurol 2001: 32-7.
- Farag HM, Kotb SM, Sweify GA, Fawzy RK, Ismail SR. A diagnostic clinical genetic study of craniofacial dysmorphism. East Mediterr Health J. 1999: 470-7.
- Miller SP, Riley P, Shevell MI. The neonatal presentation of prader-willi syndrome revisited. J Pediatr 1999; 134: 226-8.
- Killeen, Anthony A. "Genetic Inheritance". principles of molecular pathology. Humana Press 2004 pp.41
- Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F. Prader-Willi syndrome: consensus diagnostic criteria". Pediatrics 1993: 398-402
- Gunay-Aygun M, Schwartz S, Heeger, S, O'Riordan, MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001; 108: e92
- Jones KL. Smith's Recognizable Patterns of Human Malformation. Philadelphia: W.B. Saunders Company 5th edition, 2005: 223-4
- Cassidy SB, Schwartz S. Prader-Willi Syndrome (PWS), GENEREVİEWS Posting: http://www.ncbi.nlm.nih.gov/books/NBK1330/(accessed on February 24, 2011) 6, 1998, Last Revision: September 3, 2009,
- Allanson JE, Cassidy SB Management of Genetic Syndromes. New York: Wiley- Liss, Inc 2001: 334-40
EARLY DİAGNOSİS PRADER WILLI SYNDROME IN A CASE WITH DYSMORPHIC FACIES, NEONATAL HYPOTONIA AND FEEDING DIFFICULTIES
Öz
Prader Willi syndrome (PWS) is due to a paternal deletion of the long arm of chromosome 15 (15q11-13), maternal uniparental dysomy or chromosomal rearrangement of this region. It is characterized by central hypotonia and feeding problems during the neonatal period, characteristic craniofacial appearance and hypogonadotrophic hypogonadism. Developmental delay, mental retardation and obesity can be observed during the childhood years. In our manuscript, we present a 9 month - old male with dysmorphic facies, neonatal hypotonia and feeding difficulties. Since the phenotype was suggestive of Prader Willi syndrome, we performed Fluorescence in situ Hybridization (FISH) analysis (specific for 15q11-13 region) along with routine karyotype. The case, whose routine karyotype was found as normal, had a deletion in 15q11-13 region in FISH analysis. During genetic counseling, the family was informed about the future aspects (developmental delay, mental retardation, obesity, hypogonadism) of PWS. Our case represents the importance of diagnosis of PWS in early diagnosis with dysmorphic facies, neonatal hypotonia and feeding difficulties findings and emphasizes the possible role of the FISH analyses.
Anahtar Kelimeler
Kaynakça
- Baltimore, MD, Johns Hopkins University, ONLINE MENDELIAN INHERITENCE IN MAN (OMIM). Prader Willi Sendromu (MIM#176270), http://www.ncbi.nlm.nih.gov/omim/ (accessed on February 24, 2011)
- Nussbaum LR, Malnnes RR, Willard HF, Boerkoel CF. Thompson and Thompson genetics in medicine. 6th ed. Philadelphia: WB Saunders, 2001, pp.137-8
- Richer LP, Shevell MI, Miller SP. Diagnostic profile of neonatal hypotonia: an 11-year study. Pediatr Neurol 2001: 32-7.
- Farag HM, Kotb SM, Sweify GA, Fawzy RK, Ismail SR. A diagnostic clinical genetic study of craniofacial dysmorphism. East Mediterr Health J. 1999: 470-7.
- Miller SP, Riley P, Shevell MI. The neonatal presentation of prader-willi syndrome revisited. J Pediatr 1999; 134: 226-8.
- Killeen, Anthony A. "Genetic Inheritance". principles of molecular pathology. Humana Press 2004 pp.41
- Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F. Prader-Willi syndrome: consensus diagnostic criteria". Pediatrics 1993: 398-402
- Gunay-Aygun M, Schwartz S, Heeger, S, O'Riordan, MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001; 108: e92
- Jones KL. Smith's Recognizable Patterns of Human Malformation. Philadelphia: W.B. Saunders Company 5th edition, 2005: 223-4
- Cassidy SB, Schwartz S. Prader-Willi Syndrome (PWS), GENEREVİEWS Posting: http://www.ncbi.nlm.nih.gov/books/NBK1330/(accessed on February 24, 2011) 6, 1998, Last Revision: September 3, 2009,
- Allanson JE, Cassidy SB Management of Genetic Syndromes. New York: Wiley- Liss, Inc 2001: 334-40
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 14 Mart 2011 |
| Yayımlandığı Sayı | Yıl 2011Cilt: 33 Sayı: 1 |