Öz
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.
Anahtar Kelimeler
Adrenal hypoplasia congenita image syndrome adrenal insufficiency metaphyseal dysplasia
Kaynakça
- 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
Öz
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
Kaynakça
- 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
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu |
| Yazarlar | |
| Yayımlanma Tarihi | 3 Aralık 2018 |
| Yayımlandığı Sayı | Yıl 2018 Cilt: 16 Sayı: 3 |