Nadir ve Atipik Bulgularla Seyreden Bir Smith-Magenis Sendromu Vakası

Yıl 2020, Cilt: 2 Sayı: 1, 46 - 49, 01.03.2020

Aysel Kalaycı Yiğin , Tarık Alay , Mehmet Seven

https://doi.org/10.38175/phnx.686763

Öz

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

Öz

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.

Anahtar Kelimeler

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

Kaynakça

• 1. Elsea SH, Girirajan S. Smith–Magenis syndrome. European Journal of Human Genetics. 2008; 16(4), 412–421.
• 2. Falco M, Amabile S, Acquaviva F. RAI1 gene mutations: mechanisms of Smith-Magenis syndrome. Appl Clin Genet. 2017; 10:85-94.
• 3. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991; 49(6):1207-18.
• 4. Chen L, Mullegama SV, Alaimo JT, Elsea SH. Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. Dev Period Med. 2015; 19(2):149-56. Review.
• 5. Smith AC, Dykens E, Greenberg F. Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). Am J Med Genet. 1998; 81(2):186- 191.
• 6. Vlangos CN, Yim DK, Elsea SH. Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab. 2003; 79(2):134-41.
• 7. Boudreau EA, Johnson KP, Jackman AR, Blancato J, Huizing M, Bendavid C et al. Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. Am J Med Genet A. 2009; 149A (7):1382-91.
• 8. Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane BM, Foster R, Gropman A, Girirajan S, Haas-Givler B. Smith-Magenis Syndrome. 2001 Oct 22 [updated 2019 Sep 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
• 9. Nijim Y, Adawi A, Bisharat B, Bowirrat A. First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview. Medicine (Baltimore). 2016 Jan;95(3):e2362.
• 10. Gropman, A. L., Elsea, S., Duncan, W. C., & Smith, A. C. (2007). New developments in Smith-Magenis syndrome (del 17p11.2). Current Opinion in Neurology, 20(2), 125–134.
• 11. Doherty ES, Lacbawan FL. 2q37 Microdeletion Syndrome. 2007 May 3 [Updated 2013 Jan 31]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 
• 12. Perkins T, Rosenberg JM, Le Coz C, et al. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. 2017;5(5):1344–1350.e3.
• 13. Medina-Gomez C, Kemp JP, Dimou NL, Kreiner E, Chesi A, Zemel BS et al. Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. Nat Commun. 2017; 25;8(1):121.