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MR image reveals the enlarged 4th ventricle of fetus ll, which communicates with the cisterna magna (straight arrow) with a split brainstem extending to cervico-medullary junction.
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Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head. We report the ultrasound (US) and magnetic resonance (MR) imaging findings of a case of iniencephaly with clubfeet and arthrogryposis. The diagnosis of ini...
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Citations
... This disorder is characterized by three main features: retro ection of fetal head, occipital bone defect, and variable rachischisis (1). Lewis discovered two types of iniencephaly in 1897: iniencephaly clausus, characterized by a spinal defect without encephalocele, and iniencephaly apertus, which shows both spinal defect and an encephalocele (2)(3)(4).This condition can occur in 0.1 to 10 out of 10000 cases, with females constituting more than 90% of the patients (5)(6)(7). In this report, we describe a case of iniencephaly clausus that was initially suspected during intrapartum evaluation and subsequently con rmed postnatally. ...
... This condition is a rare neural tube defect with three distinct features: occipital bone defect, cervicothoracic vertebral body abnormality (part or all vertebral body is missing or fused), and arch fusion abnormalities. These anomalies cause shortening of the cervical spine and hyperextension of the cervicothoracic spine, causing the mandibular skin to continue with the chest wall (4,9,10). ...
Iniencephaly is a rare type of neural tube defect characterized by the merging of the cervical and cervicothoracic vertebrae. This condition results in acute retroflexion of the head, a short neck, significant lordosis of the cervical spine, and ultimately an upturned face. Fetuses with iniencephaly often do not survive, with many being stillborn or dying shortly after birth.
Here we are reporting a case of iniencephaly which was suspected on intrapartum ultrasound upon admission of a woman referred from a health center for diagnosis of preterm premature rupture of membrane and labor.
The fetus died intrapartum a few minutes before delivery.
... Antenatal screening ultrasonography as early as 12 weeks may reveal a typical "stargazing appearance" of the fetus. 11 Maternal obesity, oligohydramnios, and complex anomalies of the fetus may occasionally pose challenges to diagnosis; however, the advent of faster MRI imaging with half-Fourier techniques has proven highly useful in this regard. This technique has virtually eliminated the need for sedation and avoids artifacts due to fetal motion. ...
BACKGROUND: Iniencephaly is an extremely rare congenital neural tube defect (NTD) involving the occipital region with rachischisis of the cervico- thoracic spine and fixed retroflexion deformity of the head. It affects an esti- mated 0.1e10 out of 10,000 pregnancies and carries a dismal prognosis. Most affected children are either stillborn or perish within a few hours of delivery. Pathological and postmortem studies of iniencephaly significantly outnumber the limited amount of literature available on patients surviving with this disor- der. To date, surgical repair has been attempted in only 3 of the 8 patients with iniencephaly who have survived long-term. Thus, a huge knowledge gap re- mains regarding the neurosurgical nuances and postsurgical outcomes in iniencephaly.
- CASE DESCRIPTION: A 4-year-old girl presented with soft, fluctuant swelling in the suboccipital region and was subsequently diagnosed with iniencephaly. She underwent a successful surgical repair of the encephalocele with dural plication. No recurrence of swelling or new neurologic deficits were noted at a 1-year follow-up.
- CONCLUSION: Iniencephaly is a complex NTD associated with high perinatal mortality that requires a vigilant antenatal diagnosis. Surgical repair may be attempted in the lucky few survivors after a thorough evaluation of the anomaly.
... 4 The incidence rate of iniencephaly ranges from 0.1 to 10 in 10,000 in general population all over and has been found most often in female fetuses. 5 Whereas, in India, the incidence has been reported to be 1 per 65,000 deliveries. 6 Iniencephaly is almost always associated with numerous other anomalies such as anencephaly, encephalocele, meningomyelocele, hydrocephalus, Dandy-Walker malformation, hydronephrosis, polycystic kidneys, cardiac defects, caudal regression syndrome, clubfoot, etc. 7 And because of this, it often goes unnoticed or unreported in many cases giving a false impression of its incidence rate in general population. ...
Following case report is an attempt to ascertain that the fetus obtained and evaluated presents with iniencephaly, which is one of the rare variants of neural tube defects. Most of the cases of iniencephaly are reported as isolated incidences. However, some researchers have reported its occurrence in cluster, in a short span of time in a specific population. This case report elaborates various gross anomalies in a fetus which differentiates it from other neural tube defects. The study was performed by examining the external features as well as the radiograph of the abortus. The study also elaborates in brief the different versions of neural tube anomalies which are sometimes concomitantly observed in the same fetus. Prenatal or postnatal diagnoses of iniencephaly with or without associated anomalies are suggestive of chromosomal abnormalities and in such cases cytogenetic investigations are highly recommended.
... The other one with absent encephalocele is called iniencephaly clausus. 5 Cardiovascular disorders, diaphragmatic hernias, and gastrointestinal malformations are other additional defects seen in these cases. 6 Iniencephaly is not a genetic disease; however, the exact etiology for its occurrence is still unknown. ...
... 9 Previous delivery of iniencephalic fetus is associated with 1-5% risk of recurrence in subsequent pregnancies. 5 Herein, we present a rare case of iniencephaly apertusaccidentally diagnosed at 22 weeks gestation in apparently healthy pregnant woman. ...
... In cases associated with minor malformations, cervical deformities could be improved by neurosurgical intervention. 5 Termination of pregnancy should be offered after counseling once the condition is diagnosed antenatally. Since it has a high recurrence rate, women should be counseled for folic acid supplementation even before next pregnancies. ...
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.
... The term of Iniencephaly is taken from the Greek word inion which means back of the neck and encephalos refer to brain. The fusion of the posterior most part of occipital bone with the back leading to the absence of the neck and retroflexion of head [4]. ...
... Incidence ranges from 0.1 to 10 in 10,000. It is more common in females (about 90%), once a mother has given birth to a child with iniencephaly, risk of recurrence increases to 1-5% [6]. ...
... Iniencephaly is a rare disease which was described for the first time by Saint Hilaire in 1836; description was then completed by Lewis in 1847 and Ballantyne in 1906 (1). This complex malformation is a part of neural tube defects and etiologic factors are probably numerous with environmental and genetic involvement (2,3). This disorder is clinically characterized by a retro flexion of the head, a very short neck, a marked lordosis of the cervical spine with in many cases an upward turned face (3)(4)(5). ...
... This complex malformation is a part of neural tube defects and etiologic factors are probably numerous with environmental and genetic involvement (2,3). This disorder is clinically characterized by a retro flexion of the head, a very short neck, a marked lordosis of the cervical spine with in many cases an upward turned face (3)(4)(5). Anatomically, the malformation is represented by enlargement of foramen magnum, varying degrees of cervical and thoracic vertebrae fusion, and incomplete closure of posterior arches of cervical vertebrae (3)(4)(5)(6). Several associated malformations of central nervous system have been described (7). ...
... This disorder is clinically characterized by a retro flexion of the head, a very short neck, a marked lordosis of the cervical spine with in many cases an upward turned face (3)(4)(5). Anatomically, the malformation is represented by enlargement of foramen magnum, varying degrees of cervical and thoracic vertebrae fusion, and incomplete closure of posterior arches of cervical vertebrae (3)(4)(5)(6). Several associated malformations of central nervous system have been described (7). ...
... The description was then completed by Lewis in 1847 and Ballantyne in 1906 [1]. This complex malformation is a part of neural tube defects, and etiologic factors are probably numerous with environmental and genetic involvement [2,3]. This disorder is clinically characterized by a retroflexion of head, a very short neck, a marked lordosis of the cervical spine, and in many cases an upward turned face [3][4][5]. ...
... This complex malformation is a part of neural tube defects, and etiologic factors are probably numerous with environmental and genetic involvement [2,3]. This disorder is clinically characterized by a retroflexion of head, a very short neck, a marked lordosis of the cervical spine, and in many cases an upward turned face [3][4][5]. Anatomically, the malformation is represented by enlargement of foramen magnum, varying degrees of cervical and thoracic vertebrae fusion, and incomplete closure of posterior arches of cervical vertebrae [3][4][5][6]. Several associated malformations of central nervous system have been described [7]. ...
... This disorder is clinically characterized by a retroflexion of head, a very short neck, a marked lordosis of the cervical spine, and in many cases an upward turned face [3][4][5]. Anatomically, the malformation is represented by enlargement of foramen magnum, varying degrees of cervical and thoracic vertebrae fusion, and incomplete closure of posterior arches of cervical vertebrae [3][4][5][6]. Several associated malformations of central nervous system have been described [7]. ...
... Iniencephaly is a rare and lethal neural tube defect, which was first described by Saint Hilaire [1]. It is characterized by an occipital bone defect, spinal dysraphism, and fixed retroflexion of the fetal head [2]. It may be associated with neurologic anomalies including encephalocele, anencephaly, meningomyelocele, hydrocephalus, Dandy-Walker malformation, holoprosencephaly, and non-neurologic anomalies including club foot, cardiac anomalies, omphalocele, congenital diaphragmatic hernia, polycystic kidney disease, artrogryposis, single umblical artery and gastrointestinal atresia [3]. ...
... Howkins and Lawrie further classified iniencephaly into simple iniencephaly (iniencephalus apertus and iniencephalus clauses), and iniencephaly with anencephaly (anencephaly with spinal retroflexion) [4]. The incidence ranges from 0.1 to 10 in 10.000 births [2][3]. Most fetuses are stillborn or die soon after birth due to life threatening congenital abnormalities. ...
Based on a study of 16 fetuses that were diagnosed as having inencephaly, we discuss the correlation between sonographic and the pathologic findings in relation to the literature. Anencephaly was the most common anomaly associated with iniencephaly in the first trimester (100%). Other associated anomalies were encephalocele, meningomyelocele, micrognathia, omphalocele, gastroschisis, kyphoscoliosis, and upper and lower extremity abnormalities. History of neural tube defect and accompanying anomalies of iniencephaly such as anencephaly should be considered as potential diagnostic indicators of iniencephaly
... It is a neural tube defect, more common in females, with an incidence of 10 in 10,000. [8] It is characterized by retroflexion of head, absence of occipital bones, spinal deformities, fusion of cervicothoracic vertebrae, and absence of neck causing upward turning of chin and face [9] [ Figure 6]. ...
Ultrasonography (USG) is the primary method for antenatal fetal evaluation. However, fetal magnetic resonance imaging (MRI) has now become a valuable adjunct to USG in confirming/excluding suspected abnormalities and in the detection of additional abnormalities, thus changing the outcome of pregnancy and optimizing perinatal management. With the development of ultrafast sequences, fetal MRI has made remarkable progress in recent times. In this pictorial essay, we illustrate a spectrum of structural abnormalities affecting the central nervous system, thorax, genitourinary and gastrointestinal tract, as well as miscellaneous anomalies. Anomalies in twin gestations and placental abnormalities have also been included.
