Özlem ARMAN, Derya SOY, Ebru ARHAN, Gülsen KÖSE, Zehra AYCAN

A rare association: Recurrent hypernatremia, cleft lip/palate, and holoprosencephaly

Fasiyal dismorfizm, holoprosensefali ve hipernatremi birlikteliğinin olduğu bir olgu sunulmustur. Yarık damak dudak, ektrodaktilisi olan yedi aylık kız hasta hastanemize tekrarlayan hipernatremik dehidratasyon ile basvurdu. Manyetik rezonans görüntülemede holoprosensefali görüldü. Plasma osmolalitesi artmıs, idrar osmolaritesi ise düsüktü. Serum ADH düzeyi düsük idi. Sıvı kısıtlama testi diabet insipitus ile uyumlu idi. Bu olgu sunumu ile, orta hat yüz defektlerinin serebral malformasyonlar ile birliktelik gösterebileceği ve diabet insipitusun akla getirilmesi gerektiği vurgulanmak istenmistir.

Nadir bir birliktelik: Tekrarlayan hipernatremd, yarık damak-dudak ve holoprosensefald

We report a female infant with facial dysmorphism, ectrodactyly, holoprosencephaly, and associated hypernatremia. A 7-month-old female infant with cleft lip and palate, and ectrodactyly was admitted to our hospital with recurrent hypernatremic dehydration. Magnetic resonance imaging revealed holoprosencephaly. Plasma osmolality was increased whereas urinary osmolality was decreased. Serum ADH level was low. A water deprivation test revealed diabetes insipidus. By presenting this case,we would like to point out that midline facial defects may be associated with cerebral malformations and diabetes insipidus must always be kept in mind as a co-presenting condition.

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