Nihan UYGUR, Feyza YILDIZ, Feray GÜVEN, Leyla KARADENİZ, Ümit AKYÜZ, Aksu SAY

İniensefali. Olgu sunumu

İniensefali, karakteristik bulguları oksipital kemik defekti, servikotorakal vertebralarm tam veya kısmi yokluğu, fetal retrofleksiyon olan, nadir rastlanan genelde ölümcül olan bir nöral tüp defektidir. Gestasyonun 28. gününde tamamen kapanması gereken nöral tüpteki kapanma kusuru sonucu oluşur. İniensefali'ye sıklıkla merkezi sinir sistemi, gastrointestinal, kardiyovasküler sistem anomalileri eşlik edebilir.İnsidansı 1/850-1/40000 canlı doğum olan iniensefalik bir yenidoğanı literatür bilgileri eşliğinde sunduk.

Anahtar Kelimeler:

Olgu sunumu, Nöral tüp defektleri, Süt çocuğu, yenidoğan, hastalıklar, Anomaliler, çoklu, Ölümle sonuçlanma

Iniencephaly: A case report

İniencephaly is a rare but almost always lethal neural tube defect with following cardinal features: Occipithal bone defect, partial or total absence of cérvicothoracal vertebrae and fetal retroflexion.There is a defect in closure of the neural tube, which, under normal circumstances, is completely fused by 28 days of gestation. Iniencephaly is associated with malformations of central nervous system, gastrointesinal - and cardiovasküler system. We present an iniencephalic newborn with a review of literature.

Keywords:

Case report, Neural Tube Defects, Infant, Newborn, Diseases, Abnormalities, Multiple, Fatal Outcome,

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1. Moore KL: The Developing Human Clinically Oriented Embryology. Third edition., Philedelphia.WB Saunders, 1982;375-412
2. Doğan MM, Ekici E, Yapar EG, et all. İniencephaly:sonographic- pathologic correlation of 19 cases. J Perinatal Med 1996;24:501-511
3. Aquila A, Nazer J, Bentjerodt R.Prevention of neural tube closure defects, a propose of a case of iniencephaly.rev Chilena Obstet Gynecol 1994;58:53-6
4. Haider P, Jafarey S. A rare neural tube defect:a report of eight cases in Pakistan.Asia- Ocenia J Obstet Gynecol 1991;17:241-6
5. Kulaylat NA, Narchi H. Iniencephaly:An uncommon neural tube defect. J Pediatr 2000;36:414
6. Paterson SJ. İniencephalus. J Obstet Gynecol Br Emp 1944;51:330-33
7. Rodriguez MM, Reik RA, Carreno TD, et all. Clusters of iniencephaly in Miami. Pediatr Pathol 1991;11:211-221
8. David TJ, Nixon A:Congenital malformations assosiated with anencephaly and iniencephalyJ Med Genet 13:263-265.1976
9. Romero R, Pilu G, Jeanty P, et all: Prenatal Diagnosis of Congenital Anomalies.Norwalk, Conn:Appleton and Lange, 1988, pp 65-67
10. Sherk HH,Shut L, Chung S:İniencephalic deformity of the cervical spine with Klippel- Feil anomalies and congenital elevation of the scapula. Report of three cases. J Bone Joint Surg (Am)56:1254-1259,1974
11. Katz VL, Aylsworth AS, Albright SG:Iniencephaly is not uniformly fatal.Prenat Diag 9:595-599.1989
12. Munden MM, Macpherson RI, Cure J:3-D computed tomography imaging. Pediatr Radiol 23:572.1993
13. Erdinçler P, Kaynar MY, Canbaz B, et all: iniencephaly: neuroradiological and surgical features. Case report and review of the literature. J Neurosurg 1998;89:317-20. 14. Aleksic S, Budzilovich G, Greco MA, et alLiniencephaly: Neuropathologic study. Clin Neuropathol 2 (1983):55
15. Myriantopulos NC, MelnickM. Studies in neural tube defects.:Epidemiologic and etiologic agents. Am J Med Genet 1987;18:404-405
16. Jones KL. Smith's recognizable patterns of human malformation. Philadelphia: WB Saunders;1997.p:608-9
17. Paterson SJ:Iniencephalus.J Obstet Gynecol BrEmp 51 (1944):330
18. Yang LL. Neural tube defects. in:Gomella TU Cunnnigham MD, Eyal FG.,eds. Neonatology .3r edition .Appleton & Lange. 1998: 396.