Deniz TORUN, Kadri KARAER, Şefik GÜRAN, Halide KAYA, Rasim Özgür ROSTİ, Salih KOZAN, Muhterem BAHÇE

Dismorfik yüz görünümü, neonatal hipotonisitesi ve beslenme problemi olan olguda erken dönem Prader Willi sendromu tanısı

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.

Early diagnosis Prader Willi syndrome in a case with dysmorphic facial appearance, neonatal hypotonia and feeding difficulty

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

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