Mustafa Törehan ASLAN, Zeynep İNCE, Asuman ÇOBAN

HOLOPROZENSEFALİ TANILI BİR YENİDOĞANDA ERKEN BAŞLANGIÇLI SANTRAL DİABETES İNSİPİDUS

Holoprozensefali, prozensefalonun serebral hemisferleri oluşturmak için bölünmesi sırasındaki yetersizlikten kaynaklanan kompleks bir beyin malformasyonudur. Anormal hipotalamik infundibular bölge nedeniyle vazopressin salınımındaki kusura bağlı santral diabetes insipidus (SDİ) görülebilmektedir. Erken neonatal dönemde holoprozensefaliye ikincil gelişen SDİ vakası enderdir. Holoprozensefali ve 13q delesyonu olan erken başlangıçlı bir SDİ vakası sunulmuştur.

Anahtar Kelimeler:

Holoprozensefali, santral diabetes insipidus, yenidoğan

EARLY-ONSET CENTRAL DIABETES INSIPIDUS IN A NEWBORN WITH HOLOPROSENCEPHALY

Holoprosencephaly is a complex brain malformation caused by the inability of the prosencephalon to divide to form the cerebral hemispheres. Central diabetes insipidus (CDI), as a result of a defect in vasopressin release, may be seen due to the abnormal hypothalamic infundibular region. CDI developing secondary to holoprosencephaly in the early neonatal period has rarely been reported in the literature. A case of early-onset CDI with holoprosencephaly and 13q deletion is presented.

Keywords:

Holoprosencephaly central diabetes insipidus, newborn, desmopressin,

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