Nadir ve Atipik Bulgularla Seyreden Bir Smith-Magenis Sendromu Vakası

Smith-Magenis sendromu 1/15.000-25.000 sıklıkta gözlemlenen ve birçok sistemi tutan, genellikle sporadik olarak ortaya çıkan, kompleks nöro-gelişimsel bir bozukluktur. Hastaların çoğunda görülen klinik bulgulardan, 17p11.2 bölgesinde yer alan Retinoic acid-induced (RAI-1) geninin yol açtığı haployetersizlik sorumludur. Bu sendromda; kendine özgü kraniofasial görünüm, konuşmada gecikme ve konuşma güçlüğü, orta/ciddi düzeyde zekâ geriliği, davranış problemleri ve uyku bozukluğu bulunur. Özellikle uyku bozuklukları ve davranış problemleri iyi tanımlanmış olup, neredeyse her hastada gözlenir ve dismorfik bulguların eşlik etmesi durumunda Smith-Magenis sendromu hakkında önemli bir ipucu verir. Bu makalede, nadir, tipik olmayan bulgularla seyreden ve kromozomal mikrodizin analizi ile tanı konulan Smith-Magenis sendromlu bir olgu sunulacaktır.

Anahtar Kelimeler:

Smith-Magenis Sendromu, Mikropenis, İnmemiş Testis, RAI-1 geni, Mikrodizin Analizi

Rare and Atypical Findings in Smith-Magenis Syndrome: A Case Report

Smith-Magenis syndrome is a complex sporadically occurring neurodevelopmental disorder affecting many organ systems of the body, which is frequently observed 1/15.000-25.000. Haploinsufficiency caused by the RAI-1 gene at point 17p11.2 are responsible for the clinical manifestations in most of the patients. This syndrome has characterized by distinct craniofacial face appearance, delayed speech and speech difficulty, moderate to severe intellectual disability, behavioral problems and sleep disturbances. Particularly, behavioral problems and sleep disturbances are well defined and almost occur in every patient, gives an important clue about the diagnosis of Smith-Magenis syndrome if accompanied by dysmorphic features. In this study, we present a case with Smith-Magenis syndrome, which is followed by rare, non-typical findings and diagnosed by chromosomal microarray analysis.

Keywords:

Smith-Magenis Syndrome, Micropenis, Undescended testis, RAI-1 gene, Microarray analysis,

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