SavedAdd your journal

Journals / Güncel Pediatri / 2018 / Cilt: 16 Sayı: 3

Adrenal Hypoplasia with Skeletal Dysplasia: IMAGe Syndrome

Adrenal Hipoplazi ve İskelet Displazisi Birlikteliği: İMAGe Sendromu

Gül Direk(Erciyes Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı)
Ülkü Gül Şiraz(Erciyes Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı)
Zeynep Uzan Tatlı(Erciyes Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı)
Leyla Akın(Erciyes Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı)
Nihal Hatipoğlu(Erciyes Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı)
Mustafa Kendirci(Erciyes Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı)
Selim Kurtoğlu(Erciyes Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı)
Pages
133–140
Publication Date
2018-12-03
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Being a rare disease, a case with IMAGe syndrome is presented with a short review of the literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:IMAGe syndrome is an acronym which stands for the intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita (AHC) and genitourinary abnormalities.
📊
Key Findings & Data:In the  presented case, shortness of extremities was detected antenatally and the symptoms of adrenal failure showed up on the 4th day of life.
💡
Conclusion & Impact:Being a rare disease, a case with IMAGe syndrome is presented with a short review of the literature.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Konjenital adrenal hipoplazi · image sendromu · adrenal yetmezlik

Abstract

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.

Özet

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.   

🔖

Cite This Article

Direk, G., Şiraz, Ü. G., Tatlı, Z. U., Akın, L., Hatipoğlu, N., Kendirci, M., Kurtoğlu, S. (2018). Adrenal Hypoplasia with Skeletal Dysplasia: IMAGe Syndrome. Güncel Pediatri, Cilt: 16 Sayı: 3, 133–140. https://doi.org/10.32941/pediatri.485704

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (11)

  1. Vilain, E., Le Merrer, M., Lecointre, C. et al. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Journal of Clinical Endocrinology and Metabolism, 1999; 84, 4335–40.
  2. Blethen SL, Wenick GB, Hawkins LA. Congenital adrenal hypoplasiain association with growth hormone deficiency, developmental delay,partial androgen resistance, unusual facies, and skeletal abnormalities.Dysmorphol Clin Genet 1990; 4, 110 – 6.
  3. Hall BD, Stelling MW. Adrenal hypoplasia associated with severegrowth deficiency, specific pattern of malformations and psychomotorretardation. Clin Res 1991;39-63A.
  4. Bergada, I., Del Rey, G., Lapunzina, P. et al. Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. Journal of Clinical Endocrinology and Metabolism, 2005;90, 3186–90.
  5. Kato F., Hamajima T., Hasegawa T. Et al. IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. Clinical Endocrinology, 2014;80, 706–13.
  6. Arboleda, V.A., Lee, H., Parnaik, R. et al. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nature Genetics, 2012;44, 788–92.
  7. Yamazawa, K., Kagami, M., Nagai, T. et al. Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas. Journal of Molecular Medicine, 2008;86, 1171–81.
  8. 7 Amano, N., Naoaki, H., Ishii, T. et al. Radiological evolution in IMAGe association: a case report. American Journal of Medical Genetics A, 2008;146A, 2130–3.
  9. Pedreira, C.C., Savarirayan, R. & Zacharin, M.R. IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. Journal of Pediatrics, 2004;144, 274–7.
  10. James Bennett, Samantha A, Schrier Vergano,and Matthew A Deardorff, IMAGe Syndrome. GeneReviews®-NCBI bookshelfs
  11. Kato F., Hamajima T., Hasegawa T. Et al. IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. Clinical Endocrinology, 2014;80, 706–13.