Late hypocalcemia with DiGeorge syndrome in a rare case of neonatal period

Yıl 2015, Cilt: 46 Sayı: 4, 118 - 120, 02.01.2016

Handan Hakyemez Toptan , Ayşen Akbaş Tülin Gökmen Yıldırım , Taner Yavuz , Fahri Ovalı , Güner Karatekin

Öz

Introduction: Classical triad of DiGeorge Syndrome (DGS), where more than %90 of patients are detected by 22q11 deletion, is formed by congenital heart diseases, large vascular anomalies, palatal incapacity, and hypocalcemia. Hypoplasia of timus, speaking and nutrition problems, and mental retardation are other frequently observed signs. Apart from these, several different phenotypic characteristics are identified.

Case and Conclusion: Our patient with unilateral multicystic kidney and late onset hypocalcemia diagnoses has been presented as a remarkable variant of DGS.

Anahtar Kelimeler

DiGeorge syndrome, multicystic kidney; 22q11 deletion syndrome; hypocalcemia

Yenidoğan döneminde nadir görülen DiGeorge sendromlu olguda geç hipokalsemi

Öz

Giriş : Hastaların % 90 dan fazlasında 22q 11 delesyonunun saptandığı Di George Sendromu’nun (DGS) klasik triadı konjenital kalp ve büyük damar anomalileri, palatal yetersizlik ve hipokalsemiden oluşur. Timus hipoplazisi, konuşma ve beslenme problemleri, mental retardasyon diğer sık görünen bulgulardır. Bunlar dışında da pek çok değişken fenotipik özellikler tanımlanmıştır.

Olgu ve Sonuç: Tek taraflı multikistik böbrek, geç başlayan hipokalsemi bulguları olan hastamız DGS’nun dikkat çeken bir varyantı olarak sunulmuştur.

Anahtar Kelimeler

DiGeorge Sendromu; multikistik böbrek; 22q11 delesyon sendromu; hipokalsemi

Kaynakça

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