Gül Direk, Ülkü Gül Şiraz, Zeynep UZAN TATLI, Leyla AKIN, Nihal HATİPOĞLU, Mustafa KENDİRCİ, Selim KURTOĞLU

Adrenal Hipoplazi ve İskelet Displazisi Birlikteliği: İMAGe Sendromu

İntrauterin büyüme geriliği (İUGR), metafizyal displazi, adrenal hipoplazi konjenita, genital anomalilerin birlikteliği olarak bilinen İMAGe sendromu, ismini bu hastalıkların baş harflerinden almıştır. Konjenital adrenal hipoplazi en ciddi bulgusudur ve genellikle hayatın ilk aylarında meydana gelir. Sunulan hastada da antenatal dönemde ektremite kısalığı saptanmış olup adrenal yetmezlik bulguları postnatal 4. gününde ortaya çıkmıştır. İMAGe sendromunun erken tanısı, sendrom bileşenlerinden olan surrenal yetmezliğin hayati tehlikeye neden olması açısından önemlidir. Sendromun diğer bileşenlerinin bilinmesi karşılaşılan olguda erken müdahaleyi de mümkün kılar. Burada nadir görülmesi nedeniyle İMAGE sendromlu bir olgu, sendromla ilgili kısa literatür bilgileri ile paylaşılacaktır.

Anahtar Kelimeler:

Konjenital adrenal hipoplazi, image sendromu, adrenal yetmezlik, metafizyal displazi

Adrenal Hypoplasia with Skeletal Dysplasia: IMAGe Syndrome

IMAGe syndrome is an acronym which stands for the intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita (AHC) and genitourinary abnormalities. Congenital adrenal hypoplasia is the most serious component of the syndrome which generally occurs during the first months of life. In the presented case, shortness of extremities was detected antenatally and the symptoms of adrenal failure showed up on the 4th day of life. Because the adrenal insufficiency is a life-threatening condition, early diagnosis of this syndrome is very important. Recognition of other components of the disease makes early intervention possible. Being a rare disease, a case with IMAGe syndrome is presented with a short review of the literature.

Keywords:

Adrenal hypoplasia congenita, image syndrome, adrenal insufficiency, metaphyseal dysplasia,

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