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Journals / İstanbul Tıp Fakültesi Dergisi / 2015 / Cilt: 78 - Sayı: 3

HOLOPROSENCEPHALY: CLINICAL FINDINGS AND RELATED MALFORMATIONS IN SIX CASES

HOLOPROSENSEFALİ: ALTI OLGUDA İLİŞKİLİ MALFORMASYONLAR VE KLİNİK BULGULAR

Ecmel KAYGUSUZ
Meryem EKEN
Dilşad HERKİLOĞLU
Şeyma İÇÖZ
Ateş KARATEKE
Pages
92–96
Publication Date
2015-08-25
DOI
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AI Summary & Key Takeaways

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

It is important to examine cerebral structures of fetuses very carefully in the first trimester to detect the HPE features

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Holoprosencephaly (HPE) is a morphological anomaly of the brain that is characterised with unsuccessful or incomplete separation of the forebrain in early gestation.
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Key Findings & Data:Approximately 80% of HPE cases is accompanied by a spectrum of characteristic craniofacial anomalies.
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Conclusion & Impact:It is important to examine cerebral structures of fetuses very carefully in the first trimester to detect the HPE features
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Alobar · holoprosensefali · fetal anomali

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

Özet

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.

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Cite This Article

KAYGUSUZ, E., EKEN, M., HERKİLOĞLU, D., İÇÖZ, Ş., KARATEKE, A. (2015). HOLOPROSENCEPHALY: CLINICAL FINDINGS AND RELATED MALFORMATIONS IN SIX CASES. İstanbul Tıp Fakültesi Dergisi, Cilt: 78 - Sayı: 3, 92–96. https://ajindex.com/articles/100840

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References (10)

  1. Demyer W and Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft electroencephalographic considerations. Confin Neurol 1963; 23: 1-36.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Arathi N, Mahadevan A, Santosh V, Yasha TC, Shankar SK. Holoprosencephaly with cyclopia. Report of a pathological study. Neurol India 2003; 51: 279-82.
  7. 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.
  8. Wallis DE, Muenke M. Molecular mechanisms of holoprosencephaly. Mol Genet Metab 1999; 68: 126-38.
  9. Tongsong T, Wanapirak C, Chanprapaph P, Siriangkul S. First trimester sonographic diagnosis of holoprosencephaly. Int Gyneacol Obstet. 1999; 66: 165-9.
  10. Tanriverdi HA, Cinar E, Akbulut V, Barut A. Perinatoloji Dergisi. 2007; 15: 82-6.