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BTDMJB. 2013; 9(4): 186-189


Cornelia de Lange syndrome presenting with hypernatremic dehydration attacks

Murat Hızarcıoğlu, Pamir Gülez, Deniz Tırak.

Abstract
Cornelia de Lange syndrome (CDL), is a genetic syndrome characterized by microcephaly, synophrys, long philtrum, intrauterine growth retardation, mental and developmental retardation. Although malformations of the midline brain are common in CDL, holoprosencephaly is not usual. hypernatremic dehydration, central diabetes insipitus can be occur with cenral malformations. In this article we discussed hypernatremic dehydration and central diabetes mellitus complications in a case with CDL associated with haloprosencephaly.

Key words: Cornelia de Lange syndrome, dehydration hypernatremia, semilobar holoprosencephaly



Hipernatremik dehidratasyon atakları ile gelen cornelia de lange sendromu

Özet
Cornelia de Lange sendromu (CDL), mikrosefali, sinofrizi, uzun filtrum gibi karakteristik yüz görünümü bulgularının bulunduğu, intrauterin büyüme, mental ve motor gelişme geriliğiyle seyreden genetik bir sendromdur. Beyin orta hat anomalileri bu sendroma sıklıkla eşlik etmektedir. Ancak holoporozensefali ile beraberliği sık değildir. CDL sendromlu olgularda intrakranial anomaliler hipernatremik dehidratasyon ve santral diabetes insipitusa neden olmaktadır.
Bu yazıda hipernatremik dehidratasyon atakları ile gelen ve holoprozensefali saptanan bir CDL sendromu sunulmuştur.

Anahtar Kelimeler: Cornelia de Lange sendromu dehidratasyon hipernatremi, semilobar holoporozensefali



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