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HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR

Year 2015, Volume: 78 Issue: 3, 92 - 96, 25.08.2015
https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96

Abstract

Amaç: Holoprosensefali (HPE), erken gestasyonel dönemde ön beynin tamamen veya yetersiz ayrılmasıyla karakterli beynin yapısal bir anomalisidir. HPE’lerin yaklaşık %80’nine, karakteristik kranyofasyal anomaliler eşlik eder. HPE, yaklaşık 16.000 canlı doğumda ve 250 embryoda bir ortaya çıkan, insanda sık görülen beyin defektidir. Sıklıkla, ilk kez gebelikteki ultrason sırasında tanımlanır. Hafif ve orta derecede beyin anomalisi olan infantlar ise yaşamın ilk yılının sonuna kadar tanı alamayabilirler. Çalışmamızın amacı kliniğimizde HPE tanısı alan olgulara eşlik eden ek anomalileri incelemek ve bu bulguları literatür ile eşliğinde gözden geçirmektir. 

Olgular: Hastanemiz patoloji kayıtlarından 6 adet HPE tanısı alan vaka izlendi. Olguların klinik, genetik ve yapısal anomalileri değerlendirildi. 

Sonuç: Oldukça küçük başa sahip olan fetüslerde sonografik inceleme çok zor olabilir ve HPE’ye ait bulgular kolaylıkla, ilk trimesterde gözden kaçabilir. HPE’ye ait bulguların saptanabilmesi için ilk trimesterde fetusa ait serebral yapıların çok dikkatli incelenmesi önemlidir.

References

  • Demyer W and Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft electroencephalographic considerations. Confin Neurol 1963; 23: 1-36.
  • Blaas HG, Eriksson AG, Salvesen KA, Isaksen CV, Christensen B, Mollerlokken G, Eik-Nes SH. Brains and faces in holoprosencephaly: pre and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 2002; 9(1): 24-38.
  • McGahan JP, Pilu G, Nyberg DA. Cerebral malformations. In: Nyberg DA, McGahan JP, Pretorius DH. Diagnostic Imaging of Fetal Anomalies. Williams&Wilkins; 2003:221-90. PA: Lippincott
  • Peebles DM. Holoprosencephaly. Prenat Diagn 1998; 18: 477-80.
  • Bullen PJ, Rankin JM, Robson SC. Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol. 2001; 184: 1256–62.
  • Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007; 2:8.
  • Ong S, Tonks A, Woodward ER, Wyldes MP, Kilby MD. An holoprosencephaly from a regional congenital anomaly register: 1995-2004. Prenat Diagn. 2007; 27: 340–7. study of
  • Stashinko EE, Clegg NJ, Kammann HA, Sweet VT, Delgado MR, Hahn JS. A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. Am J Med Genet 2004; 128: 114-9.
  • Arathi N, Mahadevan A, Santosh V, Yasha TC, Shankar SK. Holoprosencephaly with cyclopia. Report of a pathological study. Neurol India 2003; 51: 279-82.
  • Simon Em, Hevner RF, Pinter JD, Clegg NJ, Delgado M, Kinsman SL, Hahn JS, Barkovich AJ. The
  • interhemispheric middle variant of features of holoprosencephaly
  • Roessler E, Belloni E, Gaudenz K, Jay P, Berta P et al. Mutations in the human sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996; 14: 357- 60.
  • Brown SA, Warburton D, Brown LY, Yu CY et al. Holoprosencephaly due to mutations in ZIC2 a homologue of Drosophila odpaired. Nat Genet 1998; 20: 180-3.
  • Wallis DE, Muenke M. Molecular mechanisms of holoprosencephaly. Mol Genet Metab 1999; 68: 126-38.
  • Tongsong T, Wanapirak C, Chanprapaph P, Siriangkul S. First trimester sonographic diagnosis of holoprosencephaly. Int Gyneacol Obstet. 1999; 66: 165-9.
  • Tanriverdi HA, Cinar E, Akbulut V, Barut A. Perinatoloji Dergisi. 2007; 15: 82-6.

HOLOPROSENCEPHALY: CLINICAL FINDINGS AND RELATED MALFORMATIONS IN SIX CASES

Year 2015, Volume: 78 Issue: 3, 92 - 96, 25.08.2015
https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96

Abstract

Objective: Holoprosencephaly (HPE) is a morphological anomaly of the brain that is characterised with unsuccessful or incomplete separation of the forebrain in early gestation. Approximately 80% of HPE cases is accompanied by a spectrum of characteristic craniofacial anomalies. HPE is a common forebrain defect in humans, with a prevalence of 1:250 in embryos and 1:16,000 among live-born infants. HPE is usually diagnosed by gestational ultrasound examination. Infants with mild or moderate brain anomalies may not be diagnosed until the first year of life. The aim of the study was to search for the defects of HPE in our cases and discuss the findings in view of the literature.

Cases: We identified 6 patients with HPE from our hospital database. We herein describe the clinical, genetic and structural abnormalities of the fetuses with HPE.

Conclusion: The ultrasonographic examination of the brain in fetuses with a small head may be difficult and the first trimester features of HPE can be easily overlooked. It is important to examine cerebral structures of fetuses very carefully in the first trimester to detect the HPE features

References

  • Demyer W and Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft electroencephalographic considerations. Confin Neurol 1963; 23: 1-36.
  • Blaas HG, Eriksson AG, Salvesen KA, Isaksen CV, Christensen B, Mollerlokken G, Eik-Nes SH. Brains and faces in holoprosencephaly: pre and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 2002; 9(1): 24-38.
  • McGahan JP, Pilu G, Nyberg DA. Cerebral malformations. In: Nyberg DA, McGahan JP, Pretorius DH. Diagnostic Imaging of Fetal Anomalies. Williams&Wilkins; 2003:221-90. PA: Lippincott
  • Peebles DM. Holoprosencephaly. Prenat Diagn 1998; 18: 477-80.
  • Bullen PJ, Rankin JM, Robson SC. Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol. 2001; 184: 1256–62.
  • Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007; 2:8.
  • Ong S, Tonks A, Woodward ER, Wyldes MP, Kilby MD. An holoprosencephaly from a regional congenital anomaly register: 1995-2004. Prenat Diagn. 2007; 27: 340–7. study of
  • Stashinko EE, Clegg NJ, Kammann HA, Sweet VT, Delgado MR, Hahn JS. A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. Am J Med Genet 2004; 128: 114-9.
  • Arathi N, Mahadevan A, Santosh V, Yasha TC, Shankar SK. Holoprosencephaly with cyclopia. Report of a pathological study. Neurol India 2003; 51: 279-82.
  • Simon Em, Hevner RF, Pinter JD, Clegg NJ, Delgado M, Kinsman SL, Hahn JS, Barkovich AJ. The
  • interhemispheric middle variant of features of holoprosencephaly
  • Roessler E, Belloni E, Gaudenz K, Jay P, Berta P et al. Mutations in the human sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996; 14: 357- 60.
  • Brown SA, Warburton D, Brown LY, Yu CY et al. Holoprosencephaly due to mutations in ZIC2 a homologue of Drosophila odpaired. Nat Genet 1998; 20: 180-3.
  • Wallis DE, Muenke M. Molecular mechanisms of holoprosencephaly. Mol Genet Metab 1999; 68: 126-38.
  • Tongsong T, Wanapirak C, Chanprapaph P, Siriangkul S. First trimester sonographic diagnosis of holoprosencephaly. Int Gyneacol Obstet. 1999; 66: 165-9.
  • Tanriverdi HA, Cinar E, Akbulut V, Barut A. Perinatoloji Dergisi. 2007; 15: 82-6.
There are 16 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Case Reports
Authors

Ecmel Kaygusuz

Meryem Eken

Dilşad Herkiloğlu

Şeyma İçöz This is me

Ateş Karateke This is me

Publication Date August 25, 2015
Submission Date August 25, 2015
Published in Issue Year 2015 Volume: 78 Issue: 3

Cite

APA Kaygusuz, E., Eken, M., Herkiloğlu, D., İçöz, Ş., et al. (2015). HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR. Journal of Istanbul Faculty of Medicine, 78(3), 92-96. https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96
AMA Kaygusuz E, Eken M, Herkiloğlu D, İçöz Ş, Karateke A. HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR. İst Tıp Fak Derg. November 2015;78(3):92-96. doi:10.18017/iuitfd.13056441.2015.78/3.92-96
Chicago Kaygusuz, Ecmel, Meryem Eken, Dilşad Herkiloğlu, Şeyma İçöz, and Ateş Karateke. “HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR”. Journal of Istanbul Faculty of Medicine 78, no. 3 (November 2015): 92-96. https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96.
EndNote Kaygusuz E, Eken M, Herkiloğlu D, İçöz Ş, Karateke A (November 1, 2015) HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR. Journal of Istanbul Faculty of Medicine 78 3 92–96.
IEEE E. Kaygusuz, M. Eken, D. Herkiloğlu, Ş. İçöz, and A. Karateke, “HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR”, İst Tıp Fak Derg, vol. 78, no. 3, pp. 92–96, 2015, doi: 10.18017/iuitfd.13056441.2015.78/3.92-96.
ISNAD Kaygusuz, Ecmel et al. “HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR”. Journal of Istanbul Faculty of Medicine 78/3 (November 2015), 92-96. https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96.
JAMA Kaygusuz E, Eken M, Herkiloğlu D, İçöz Ş, Karateke A. HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR. İst Tıp Fak Derg. 2015;78:92–96.
MLA Kaygusuz, Ecmel et al. “HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR”. Journal of Istanbul Faculty of Medicine, vol. 78, no. 3, 2015, pp. 92-96, doi:10.18017/iuitfd.13056441.2015.78/3.92-96.
Vancouver Kaygusuz E, Eken M, Herkiloğlu D, İçöz Ş, Karateke A. HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR. İst Tıp Fak Derg. 2015;78(3):92-6.

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