scholarly journals Prenatal diagnosis of a rare case of iniencephaly apertus

Author(s):  
Mahy Mohsen ◽  
Ahmed El Sheikhah ◽  
Lamees Mohamed ◽  
Sief El-Eslam Ali ◽  
Armia Michael ◽  
...  

Iniencephaly is a rare neural tube defect that was firstly reported by Saint-Hilaire in 1836. Its incidence ranges from 0.1 to 10 in 10,000 deliveries with higher incidence in females. The most common features present iniencephaly are bifida at the cervical region, defect in the occipital bone and retroflexion of the head on the cervical spine. Here we report a case of a 24 years old second gravida with a history of consanguinity. She presented with a malformed fetus at 22 weeks gestation diagnosed by detailed ultrasonographic anatomy scan as iniencephaly apparatus. Termination of pregnancy was performed vaginally through medical induction by prostaglandins.

2020 ◽  
Vol 15 (1) ◽  
pp. 81-83
Author(s):  
Tripti Shrestha ◽  
Gehanath Baral ◽  
Nesuma Sedhain

An extremely rare case of sirenomelia in dicephalic parapagus twins discordant for anencephaly and spina bifida that was diagnosed after birth is presented. High incidence of congenital anomalies both with sirenomelia and parapagus twins independently make the prognosis much worse, with additional neural tube defect rendering it almost incompatible with life. Termination of pregnancy is advised when diagnosed in utero. Key words: anencephaly, dicephalic parapagus, spina bifida, sirenomelia


2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Rauf Melekoglu ◽  
Sevil Eraslan ◽  
Ebru Celik ◽  
Yavuz Simsek

Objectives. In this study, we aimed to demonstrate the perinatal and neonatal outcomes of patients who were diagnosed with neural tube defect (NTD) in the midtrimester fetal ultrasound scan and refused the request for termination of pregnancy. Material and Methods. The records of 69 patients, for whom NTD was detected in the midtrimester fetal ultrasound scan and who preferred the continuation of the pregnancy after comprehensive counselling about the possible prognosis and treatment options during the period between January 2011 and February 2016, were reviewed retrospectively. Results. Of these patients, 66.7% were 25–35 years old; 95.7% were multiparous; and 1.4% had a history of a fetus having NTD in previous pregnancies. There were 7 (10.1%) neonatal deaths in these patients. Meningomyelocele closure procedure was the most performed surgery in the postnatal period (92%). Of these patients, 30.7% had paraplegia; 51.6% had neurogenic bladder; and 6.4% had infections due to surgery. Conclusion. The results of this study demonstrated perinatal and neonatal outcomes of fetuses with NTD who were not terminated by the preference of the family in midtrimester. The experience of our centre would be beneficial as a tool for nondirective counselling of these patients when considering the antenatal/postnatal care options and postnatal prognosis.


Author(s):  
K.K. Otaryan , M.A. Kolyshkina , Y.B. Aninyan et all

The case of prenatal diagnosis of neural tube defect at 11+5 weeks of gestation is presented. Chorion villus sampling performed. Karyotyping revealed double trisomy (48,XXX,+18). Termination of pregnancy was performed at 13 weeks of gestation.


1995 ◽  
Vol 62 (4) ◽  
pp. 782-784 ◽  
Author(s):  
B A Davis ◽  
L B Bailey ◽  
J F Gregory ◽  
J P Toth ◽  
J Dean ◽  
...  

2002 ◽  
Vol 97 (3) ◽  
pp. 366-368 ◽  
Author(s):  
Jun Mizutani ◽  
Shunji Tsubouchi ◽  
Muneyoshi Fukuoka ◽  
Takanobu Otsuka ◽  
Nobuo Matsui

✓ The authors report a very rare case of syringomyelia caused by loosening of multistrand cable wires following C1–2 Brooks-type fusion in a 36-year-old woman with a 13-year history of rheumatoid arthritis (RA). The syrinx vanished immediately after removal of the cables, and 2 years later no recurrence of symptoms or deterioration has occurred. The authors contend that multistrand titanium cables should not be used to fix a graft-assisted C1–2 construct in patients with RA, although this material is good for fixing rods. The phenomenon observed in this case adds to our understanding of the pathogenesis of noncommunicating syringomyelia.


2021 ◽  
Vol 81 (03) ◽  
pp. 287-291
Author(s):  
Duly Torres-Cepeda ◽  
Eduardo Reyna-Villasmil ◽  
Martha Rondón-Tapia

Iniencephaly is an infrequent and fatal neural tube defect that affects the occiput and neck, this occurs together with the widening of the foramen magnum, rachischisis and marked retro-flexion of the head. This entity belongs to the group of defects of neural tube closure. About 200 reports have been published in the literature. A diagnosis can be made using an ultrasound morphology test that is easy to perform due to the characteristic findings of the condition. Associated anomalies of the nervous system and other systems are frequently present during the ultrasound evaluation. Prenatal diagnosis of a neural tube defect that involves occipital defects and spinal and thoracic spine rachischisis accompanied by retro-flexion of the head should raise the diagnostic suspicion of iniencephaly. The prognosis is particularly bad with only a few cases of survival. Keywords: Iniencefalia, Neural tube defect, Prenatal diagnosis.


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