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

Year 2015, Volume: 46 Issue: 4, 118 - 120, 02.01.2016

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

Abstract

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.

Keywords

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

Yenidoğan döneminde nadir görülen DiGeorge sendromlu olguda geç hipokalsemi

Abstract

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.

Keywords

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

References

• --
• Devriendt K, Fryns JP, Mortier G, Thienen, M.N. van , Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998;35:789. [Google Scholar]
• Aydoğdu H. Kılıç SS. DiGeorge Sendromu – Derleme. Güncel Pediatri 2004;2. [Google Scholar]
• Tobias ES, Morrison N, Whiteford ML, Tolmie JL. Towards earlier diagnosis of 22q11 deletions.. Arch Dis Child 1999;81(6):513-514. Available from: http://adc.bmj.com/cgi/pmidlookup?view=long&pmid=10569971 PubMed PMID: 10569971. [Google Scholar]
• Türkmen M, Ünüvar T, Tosun A, Aydoğdu A, Ulucan H, Giray Ö . 22q11 Delesyonu Bir vaka takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi 2005;48:320-323. [Google Scholar]
• Pike AC, Super M. Velocardiofacial syndrome.. Postgrad Med J 1997;73(866):771-775. Available from: http://pmj.bmj.com/cgi/pmidlookup?view=long&pmid=9497944 PubMed PMID: 9497944. [Google Scholar]
• Bassett AS. Chow EWC, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet 2005;138A:307-313. [Google Scholar]
• Maalouf NM, Sakhaee K, Odvina CV. A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism. J Clin Endocr Metab 2000;89:4817-4820. [Google Scholar]
• Huang RY, Shapiro NL. Structural Airway Anomalies in Patients with DiGeorge Syndrome. Am J Otolaryngol 2000;21(5):326-330. Available from: http://www.diseaseinfosearch.org/result/20 PubMed PMID: 11032298. doi: 10.1053/ajot.2000.16166. [Google Scholar]
• Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.. Pediatrics 2003;112(1 Pt 1):101-107. Available from: http://www.scholaruniverse.com/ncbi-linkout?id=12837874 PubMed PMID: 12837874. [Google Scholar]
• --