Prenatal Diagnosis of a 25 Weeks Gestation Fetus With Bifid Choroid Plexus As a New Prominent Sign For Semilobar Holoprosencephaly: a Case Report
Abstract
Introduction: Holoprosencephaly is a severe central nervous system malformation that is found 1 in 250 of all conceptions and 1 in 10.000 live births. Severe forms of the disease are not compatible with life and are also easy to detect prenatally but it could be hard to diagnose the milder forms of the disease. Timely detection of this pathological entity that can result with catastrophic outcomes has great importance. Determination of type specific new ultrasonographic diagnostic predictors of this malformation that has various phenotypes will assist clinicians to establish the correct diagnosis. Case: Bilateral bifid choroid plexus is presented in this case report as a new prominent prenatal ultrasonographic sign of semilobar holoprosencephaly in a 25 weeks gestation fetus that was terminated due to extensive neurological malformations. Conclusion: Since the prenatal ultrasonographic signs exhibit variations according to the severity of the disease in holoprosencephaly, it is critically important to detect the type specific ultrasonographic predictors of different phenotypes of the disease to establis the correct prenatal diagnosis for clinical management and prognosis of this rare entity. This is the first case that reports bifid choroid plexus as a new ultrasonographic prominent sign of semilobar holoprosencephaly.
References
- 1. DeMyer W, Yinken PJ, Bruyn GW.Klinik Nöroloji El Kitabı, 30. baskı. Amsterdam-Kuzey Hollanda:1977:431-478
- 2. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.Holoprosencephaly. Orphanet J Rare Dis 2007; 2:2:8
- 3. Lemire RJ, Loeser JD, Leech RW, Alvord EC. Normal and abnormal development of the human nervous system. NewyorkHarper&Row:1975; 206-230
- 4. Blaas HG, Eriksson AG, Salvesen KA, et al. Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 2002;19:24-38
- 5. Croen LA, Shaw GM, Lammer EJ. Risk factors for cytogenetically normal holoprosencephaly in California: a population-based casecontrol study. Am J Med Genet 2000; 90:320
- 6. Matsunaga E, Shiota N. Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 1977;16:261-272
- 7. Chervenak FA, Isaacson G, Hobbins JC, Chithara U, Tortoram, Berhowitz RC. Diagnosis and management of fetal holoprosencephaly. Obstet Gynecol 1985; 60:322-326
- 8. Filly RA, Chinn DH, Callen PW. Alobar holoprosencephaly: ultrasonographic prenatal diagnosis. Radiology 1983;151:455-459
- 9. Kitova TT, Aida M, Dorra Z, Dalenda C, Gaigi SS.Fetopathological aspects of holoprosencephaly. Folia Med (Plovdiv) 2011;53:39-44
- 10. Solomon BD, Rosenbaum KN, Meck JM, Muenke M. Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet 2010;154:146-8.7
Semilobar Holoprozensefalide Yeni Bir Bulgu Olarak Bilateral Koroid Pleksusta Yarıklanması Olan 25 Haftalık Bir Fetüsün Prenatal Tanısı: Bir Olgu Sunumu
Abstract
Giriş: Holoprozensefali tüm konsepsiyonların 250’de birinde, canlı doğumların ise 10.000’de birinde görülen ciddi bir santral sinir sistemi malformasyonudur. Ağır formları yaşamla bağdaşmaz ve prenatal dönemde kolaylıkla tespit edilebilir ancak daha hafif formları prenatal dönemde tanınmayabilir. Gebelik açısından çok katastrofik sonuçlar doğuran bu patolojik durumun zamanında tespit edilmesinin büyük önemi vardır. Farklı fenotipleri olan bu malformasyonun tip spesifik ultrasonografik tanısal yeni belirteçlerinin belirlenmesi klinisyenlere doğru tanı koyma açısından yardımcı olacaktır. Olgu: Nörolojik malformasyonun boyutuna bağlı olarak termine edilen 25 haftalık bir fetüste semilobar holoprozensefali’nin yeni bir belirgin prenatal ultrasonografik bulgusu olarak bilateral koroid pleksusta yarıklanma sunulmuştur. Sonuç: Holoprozensefalide prenatal ultrasonografik bulgular hastalığın ciddiyetine göre farklılık gösterebildiğinden doğru prenatal tanı için hastalığın farklı tiplerine has ultrasonografik belirteçlerinin tespit edilmesi bu nadir durumun klinik yönetimi ve prognozu açısından önem taşımaktadır. Bu vaka sunumunda semilobar holoprozensefalinin yeni bir belirgin ultrasonografik bulgusu olan koroid pleksusta bilateral yarıklanma ilk kez bildirilmektedir
References
- 1. DeMyer W, Yinken PJ, Bruyn GW.Klinik Nöroloji El Kitabı, 30. baskı. Amsterdam-Kuzey Hollanda:1977:431-478
- 2. Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.Holoprosencephaly. Orphanet J Rare Dis 2007; 2:2:8
- 3. Lemire RJ, Loeser JD, Leech RW, Alvord EC. Normal and abnormal development of the human nervous system. NewyorkHarper&Row:1975; 206-230
- 4. Blaas HG, Eriksson AG, Salvesen KA, et al. Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol. 2002;19:24-38
- 5. Croen LA, Shaw GM, Lammer EJ. Risk factors for cytogenetically normal holoprosencephaly in California: a population-based casecontrol study. Am J Med Genet 2000; 90:320
- 6. Matsunaga E, Shiota N. Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases. Teratology 1977;16:261-272
- 7. Chervenak FA, Isaacson G, Hobbins JC, Chithara U, Tortoram, Berhowitz RC. Diagnosis and management of fetal holoprosencephaly. Obstet Gynecol 1985; 60:322-326
- 8. Filly RA, Chinn DH, Callen PW. Alobar holoprosencephaly: ultrasonographic prenatal diagnosis. Radiology 1983;151:455-459
- 9. Kitova TT, Aida M, Dorra Z, Dalenda C, Gaigi SS.Fetopathological aspects of holoprosencephaly. Folia Med (Plovdiv) 2011;53:39-44
- 10. Solomon BD, Rosenbaum KN, Meck JM, Muenke M. Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet 2010;154:146-8.7
Details
| Primary Language | English |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 1, 2013 |
| Published in Issue | Year 2013Issue: 4 |