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Case Report


DOI :https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96   IUP :https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96    Full Text (PDF)

Holoprosencephaly: Clinical findings and related malformations in six cases.

Ecmel Işık Kaygusuz, Meryem Kürek Eken, Dilşat Herkiloğlu, Şeyma İçöz, Ateş Karateke

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.

Keywords: Alobar, holoprocencephaly, fetal anomaly
DOI :https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96   IUP :https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96    Full Text (PDF)

HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR

Ecmel Işık Kaygusuz, Meryem Kürek Eken, Dilşat Herkiloğlu, Şeyma İçöz, Ateş Karateke

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.


Keywords: Alobar, holoprosensefali, fetal anomali

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APA

Kaygusuz, E.I., Kürek Eken, M., Herkiloğlu, D., İçöz, Ş., & Karateke, A. (2015). Holoprosencephaly: Clinical findings and related malformations in six cases.. Journal of Istanbul Faculty of Medicine, 78(3), 92-96. https://doi.org/https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96


AMA

Kaygusuz E I, Kürek Eken M, Herkiloğlu D, İçöz Ş, Karateke A. Holoprosencephaly: Clinical findings and related malformations in six cases.. Journal of Istanbul Faculty of Medicine. 2015;78(3):92-96. https://doi.org/https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96


ABNT

Kaygusuz, E.I.; Kürek Eken, M.; Herkiloğlu, D.; İçöz, Ş.; Karateke, A. Holoprosencephaly: Clinical findings and related malformations in six cases.. Journal of Istanbul Faculty of Medicine, [Publisher Location], v. 78, n. 3, p. 92-96, 2015.


Chicago: Author-Date Style

Kaygusuz, Ecmel Işık, and Meryem Kürek Eken and Dilşat Herkiloğlu and Şeyma İçöz and Ateş Karateke. 2015. “Holoprosencephaly: Clinical findings and related malformations in six cases..” Journal of Istanbul Faculty of Medicine 78, no. 3: 92-96. https://doi.org/https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96


Chicago: Humanities Style

Kaygusuz, Ecmel Işık, and Meryem Kürek Eken and Dilşat Herkiloğlu and Şeyma İçöz and Ateş Karateke. “Holoprosencephaly: Clinical findings and related malformations in six cases..” Journal of Istanbul Faculty of Medicine 78, no. 3 (May. 2025): 92-96. https://doi.org/https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96


Harvard: Australian Style

Kaygusuz, EI & Kürek Eken, M & Herkiloğlu, D & İçöz, Ş & Karateke, A 2015, 'Holoprosencephaly: Clinical findings and related malformations in six cases.', Journal of Istanbul Faculty of Medicine, vol. 78, no. 3, pp. 92-96, viewed 22 May. 2025, https://doi.org/https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96


Harvard: Author-Date Style

Kaygusuz, E.I. and Kürek Eken, M. and Herkiloğlu, D. and İçöz, Ş. and Karateke, A. (2015) ‘Holoprosencephaly: Clinical findings and related malformations in six cases.’, Journal of Istanbul Faculty of Medicine, 78(3), pp. 92-96. https://doi.org/https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96 (22 May. 2025).


MLA

Kaygusuz, Ecmel Işık, and Meryem Kürek Eken and Dilşat Herkiloğlu and Şeyma İçöz and Ateş Karateke. “Holoprosencephaly: Clinical findings and related malformations in six cases..” Journal of Istanbul Faculty of Medicine, vol. 78, no. 3, 2015, pp. 92-96. [Database Container], https://doi.org/https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96


Vancouver

Kaygusuz EI, Kürek Eken M, Herkiloğlu D, İçöz Ş, Karateke A. Holoprosencephaly: Clinical findings and related malformations in six cases.. Journal of Istanbul Faculty of Medicine [Internet]. 22 May. 2025 [cited 22 May. 2025];78(3):92-96. Available from: https://doi.org/https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96 doi: https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96


ISNAD

Kaygusuz, EcmelIşık - Kürek Eken, Meryem - Herkiloğlu, Dilşat - İçöz, Şeyma - Karateke, Ateş. “Holoprosencephaly: Clinical findings and related malformations in six cases.”. Journal of Istanbul Faculty of Medicine 78/3 (May. 2025): 92-96. https://doi.org/https://doi.org/10.18017/iuitfd.13056441.2015.78/3.92-96



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