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Fatal Seyirli Bir Neonatal CHARGE Sendromu Olgusu ve Kısa Literatür Taraması

Yıl 2023, Cilt: 20 Sayı: 3, 1956 - 1958, 01.10.2023

Refika Sirma Dokuzboy Fatma Nur Sarı Esra Sukran Cakar Şehribanu Işık Aybüke Yazıcı Evrim Alyamac Dizdar

https://doi.org/10.38136/jgon.1037244

Öz

Bu makalede, yenidoğan döneminde ölümcül seyreden bir CHARGE sendromu vakası sunulmuştur ve kısa bir literatür taraması yapılmıştır. Böylece CHARGE sendromlu bireylerin yaşamlarının erken dönemlerinde karşılaştıkları konjenital anomalilerin ve klinik semptomların çok çeşitli oluşunun altı çizilmek istenmiştir. Karakteristik dismorfik yüz özellikleri, konjenital kalp hastalığı ve şiddetli beslenme intoleransı ile bu hasta, sendromun çok sayıda organ-sistemi etkileyerek ne kadar karmaşık olabileceğinin ve tanı almayan çok hafif fenotipte olgular bulunmakla birlikte, ciddi erken ölümcül vakalarla da sonuçlanabileceğinin iyi bir örneğidir.

Anahtar Kelimeler

CHARGE sendromu yenidoğan fenotipik değişkenlik genetik tanı

Kaynakça

  • 1. Issekutz KA, Graham Jr. JM, Prasad C, Smith IM, Blake KD. An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. Am J Med Genet [Internet]. 2005;133A(3):309-17.
  • 2. Janssen N, Bergman JEH, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, et al. Mutation Update on the CHD7 Gene Involved in CHARGE Syndrome. Human Mutation. 2012;33(8):1149-60.
  • 3. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1998;37(3):159-73.
  • 4. Verloes A. Updated diagnostic criteria for CHARGE syndrome: A proposal. Am J Med Genet. 2005;133A(3):306-8.
  • 5. Hale CL, Niederriter AN, Green GE, Martin DM. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Am J Med Genet A. 2016;170A(2):344-54.
  • 6. Berube-Simard F-A, Pilon N. Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes. Transcription. 2019;10(1):21-8.
  • 7. Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature. 2010;463(7283):958-62.
  • 8. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet Part A. 2010;152A:674–86.
  • 9. Bergman JEH, Janssen N, Hoefsloot LH, Jongmans MCJ, Hofstra RMW, Ravenswaaij-Arts CMAv. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. Journal of Medical Genetics 2011;48:334-42.
  • 10. Legendre M, Abadie V, Attié‐Bitach T, Philip N, Busa T, Bonneau D, et al. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet Part C Semin Med Genet. 2017;175C:417-30.
  • 11. Hudson A, Macdonald M, Friedman JN, Blake K. CHARGE syndrome gastrointestinal involvement: from mouth to anus. Clin Genet. 2017;92(1):10-7.
  • 12. Meisner JK, Martin DM. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Am J Med Genet Part C. 2019:1-9.
  • 13. Jyonouchi S, Sullivan KE, McDonald McGinn D, Zackai E. CHARGE Syndrome vs. DiGeorge Syndrome: A Comparison of Immunologic and Non-immunologic Phenotypic Features. J Allergy Clin Immunol. 2009;123(2):S15.
  • 14. Lalani SR, Hefner MA, Belmont JW, Davenport SLH. CHARGE Syndrome. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews [Internet]. Seattle (WA): 1993-2020, University of Washington, Seattle; 2006 Oct 2 [Updated 2012 Feb 2].
  • 15. Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, et al. CHARGE syndrome: Report of 47 cases and review. American Journal of Medical Genetics. 1998;76(5):402-9.
  • 16. Wong MTY, Lambeck AJA, van der Burg M, la Bastide-van Gemert S, Hogendorf LA, van Ravenswaaij-Arts CMA, et al. Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. PLOS ONE. 2015;10(11):e0142350.
  • 17. Trider CL, Arra-Robar A, van Ravenswaaij-Arts C, Blake K. Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). Am J Med Genet A. 2017;173(3):684-91.

A Fatal Neonatal Case of CHARGE Syndrome and Mini-Review of the Literature

Yıl 2023, Cilt: 20 Sayı: 3, 1956 - 1958, 01.10.2023

Refika Sirma Dokuzboy Fatma Nur Sarı Esra Sukran Cakar Şehribanu Işık Aybüke Yazıcı Evrim Alyamac Dizdar

https://doi.org/10.38136/jgon.1037244

Öz

In this article, we aim to represent a neonatal fatal case of CHARGE syndrome and make a mini-review of the literature to underline the wide range of congenital abnormalities and clinical symptoms of individuals with CHARGE syndrome face early in life. This patient, with his characteristic dysmorphic features, congenital heart defects, and severe feeding intolerance, is a good example of how complex the syndrome could be. CHARGE syndrome might affect numerous organ systems and result in severe early lethal cases for some, while some of the cases show a very mild phenotypic spectrum and may go unrecognized.

Anahtar Kelimeler

CHARGE syndrome newborn phenotypic variability genetic testing

Kaynakça

  • 1. Issekutz KA, Graham Jr. JM, Prasad C, Smith IM, Blake KD. An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. Am J Med Genet [Internet]. 2005;133A(3):309-17.
  • 2. Janssen N, Bergman JEH, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, et al. Mutation Update on the CHD7 Gene Involved in CHARGE Syndrome. Human Mutation. 2012;33(8):1149-60.
  • 3. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1998;37(3):159-73.
  • 4. Verloes A. Updated diagnostic criteria for CHARGE syndrome: A proposal. Am J Med Genet. 2005;133A(3):306-8.
  • 5. Hale CL, Niederriter AN, Green GE, Martin DM. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Am J Med Genet A. 2016;170A(2):344-54.
  • 6. Berube-Simard F-A, Pilon N. Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes. Transcription. 2019;10(1):21-8.
  • 7. Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature. 2010;463(7283):958-62.
  • 8. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet Part A. 2010;152A:674–86.
  • 9. Bergman JEH, Janssen N, Hoefsloot LH, Jongmans MCJ, Hofstra RMW, Ravenswaaij-Arts CMAv. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. Journal of Medical Genetics 2011;48:334-42.
  • 10. Legendre M, Abadie V, Attié‐Bitach T, Philip N, Busa T, Bonneau D, et al. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet Part C Semin Med Genet. 2017;175C:417-30.
  • 11. Hudson A, Macdonald M, Friedman JN, Blake K. CHARGE syndrome gastrointestinal involvement: from mouth to anus. Clin Genet. 2017;92(1):10-7.
  • 12. Meisner JK, Martin DM. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Am J Med Genet Part C. 2019:1-9.
  • 13. Jyonouchi S, Sullivan KE, McDonald McGinn D, Zackai E. CHARGE Syndrome vs. DiGeorge Syndrome: A Comparison of Immunologic and Non-immunologic Phenotypic Features. J Allergy Clin Immunol. 2009;123(2):S15.
  • 14. Lalani SR, Hefner MA, Belmont JW, Davenport SLH. CHARGE Syndrome. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews [Internet]. Seattle (WA): 1993-2020, University of Washington, Seattle; 2006 Oct 2 [Updated 2012 Feb 2].
  • 15. Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, et al. CHARGE syndrome: Report of 47 cases and review. American Journal of Medical Genetics. 1998;76(5):402-9.
  • 16. Wong MTY, Lambeck AJA, van der Burg M, la Bastide-van Gemert S, Hogendorf LA, van Ravenswaaij-Arts CMA, et al. Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. PLOS ONE. 2015;10(11):e0142350.
  • 17. Trider CL, Arra-Robar A, van Ravenswaaij-Arts C, Blake K. Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). Am J Med Genet A. 2017;173(3):684-91.
Toplam 17 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Çocuk Sağlığı ve Hastalıkları
Bölüm Olgu Sunumu
Yazarlar

Refika Sirma Dokuzboy 0000-0002-7050-3215

Fatma Nur Sarı 0000-0003-4643-7622

Esra Sukran Cakar 0000-0001-5902-4582

Şehribanu Işık 0000-0003-2999-059X

Aybüke Yazıcı 0000-0001-9387-0029

Evrim Alyamac Dizdar 0000-0001-8956-0917

Yayımlanma Tarihi 1 Ekim 2023
Gönderilme Tarihi 16 Aralık 2021
Kabul Tarihi 24 Nisan 2023
Yayımlandığı Sayı Yıl 2023 Cilt: 20 Sayı: 3

Kaynak Göster

Vancouver Sirma Dokuzboy R, Sarı FN, Cakar ES, Işık Ş, Yazıcı A, Alyamac Dizdar E. A Fatal Neonatal Case of CHARGE Syndrome and Mini-Review of the Literature. JGON. 2023;20(3):1956-8.