Parsiyel DiGeorge Sendromunda Dikkat Eksikliği Hiperaktivite Bozukluğu ve Özgül Öğrenme Bozukluğu: Bir Olgu Sunumu

DiGeorge sendromu (DGS) en sık görülen mikrodeles yon sendromu olup prevalansı 1/4000-1/6000 arasında değişmektedir. Embriyogenezis sırasında 22q11.2'de yaklaşık 3 megabaytlık (Mb) bir bölgenin kaybı nedeni ile ortaya çıkan sendromun kliniği oldukça değişkendir. Konjenital kalp ve büyük damar anomalileri, hipokalsemi, respiratuar yetmezlik, kas-iskelet, ürogenital sistem gelihimsel anomalileri, duyma kaybı, büyüme geriliği gibi bulgular görülebilir. Çeşitli klinik tablo ve fenotiplerle karşımıza çıkan bu hastaların psikiyatrik açıdan da izlemi gerekir, konuşma gecikmesi, özgül öğrenme bozukluğu, mental retardasyon, dikkat eksikliği hiperaktivite bozukluğu, otizm, anksiyete, depresyon, şizofreni ve diğer psikotik hastalıklar tabloya eşlik edebilir. Bu yazıda tartışılan olgu, parsiyel DGS tanısı ile immunoloji, kardiyoloji, endokrinoloji ve nöroloji kliniklerinde takipli iken, okuma-yazma öğrenmede güçlük çekmesi ve dikkatinin dağınık olması nedeniyle çocuk ve ergen psikiyatrisi poliklinihine getirilmiş, dikkat eksiklihi hiper-aktivite bozukluhu (DEHB) ve özgül öğrenme bozukluğu (ÖÖB) tanılarının konulmasıyla ilaç tedavisi ve bireysel eğitim programı almıştır. DEHB ve ÖÖB eti yolojisinde 22q11.2'de yerleşmiş COMT geninin yetersiz ekspresyonu rol oynamış olabilir, henüz aradaki nedensel ilişki net olarak ortaya konulamamıştır, gelecekte bu alanda yapılacak çalışmalara ihtiyaç vardır. Olgumuzda görüldüğü gibi DGS ile takip edilen olgularda dikkat sorunları ve öğrenme zorlukları varlığında çocuk psikiyatrisi değerlendirmesi önem taşımaktadır. DGS olan hastaların her biri için uygun tedavi planı multidisipliner olarak geliştirilmelidir.

A Case of Partial DiGeorge Syndrome with Attention Deficit and Hyperactivity Disorder and Specific Learning Disorder

DiGeorge Syndrome (DGS) is the most seen microdeletion syndrome and its prevalance varies from 1/4000 to1/6000. Over embriogenesis, a deletion of an approximately 3 Mb frame from 22q11.2 results in this syndromeand its clinical features varies from congenital heart andgross vessels anomalies, hypocalcemia, respiratory problems, leucomotor or urogenitale system anomalies, hearing loss, to developmental delay. Alongside differentclinical features and phenotypes, these patients shouldbe followed up on psychiatric symptoms and disorderssuch as speech delay, specific learning difficulties (SLD),mental retardation, attention deficit hyperactivity disorder (ADHD), autism, anxiety, depression and evenschizophrenia and other pcychotic disorders. This case,diagnosed with partial DGS and followed by immunology, cardiology, endocrinology and neurology departments, admitted to our clinic on account of his difficulties in learning and inattention. The patient was diagnosed with ADHD and SLD, then pharmacotherapy andindividual educational programme were planned. Theinsufficient expression of the catecolamine-O-methyltransferase (COMT) gene located in the 22q11.2 genecould very well play a role in both the etiology of ADHDand SLD. There is still no clear causative relationbetween these, so there is a need to clarify this with further studies. As seen in our case, the patients with DGSand having some inattention or learning difficulties areneeded to be examined by the child psychiatrists.Treatment protocols related to these patients' symptomswould be evaluated with a multidisciplinary attitude.

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