- What is Iniencephaly
- What triggers / Causes Iniencephaly
- Pathogenesis (what is happening) during Iniencephaly
- Symptoms Iniencephaly
- Diagnosis Iniencephaly
- Treatment Iniencephaly
- Which doctors should be consulted if You are Iniencephaly
What is Iniencephaly -
What triggers / Causes Iniencephaly:
Pathogenesis (what is happening) during Iniencephaly:
There are several hypotheses that attempt to explain the appearance of iniencephaly. The latter was associated with dilatation and rupture of the neural tube, cleft neural tube during embryogenesis, early vascular disorders with rearrangement of the normal angiogenesis vessels responsible for perfusion in the nervous tube with subsequent disease development. M. Jones et al. received clinical evidence supporting the hypothesis that violations axial dysraphia can be the result of primary realignment of embryonic mesoderm. This may explain the presence of mesodermal lesions observed in iniencephaly.
Inherited this anomaly is transmitted in a few cases. I. Kjaer et al. argue that iniencephaly may be the result of "genetic changes in the embryonic period that violate the dorsoventral orientation of the axis of the body, manifested anatomically incorrect position of the chord".
This pathology differs from anencephaly is iniencephaly closed anterior part of the brain tube. Microscopic examination of the brain reveals a number of anomalies, "including microencephaly, polymicrogyria, heterotopic glial tissue in the meninges, atresia ventricular system, pronounced disorganization of the brain stem and the spinal cord tissue, large cerebellar cyst".
Diagnostic criteria iniencephaly - the deficit of the occipital bones of various severity, manifested in increased large opening - partial or complete absence of the cervical and thoracic vertebrae, followed by the incomplete closure of the vertebral arches and (or) tel - significant shortening of the vertebral column due to pronounced lordosis with hyperextension malformed spinal cord in the cervical-thoracic defined by a medial-sagittal scan - excessive dorsal flexion of the head, the face turn up and moving directly to the skin of the lower jaw to the chest because of the lack of neck.
Other ultrasound features include: open cervical spine with meningocele, often the presence of anencephaly, lumbosacral myelomeningocele or reverse the development of the caudal part.
The diagnosis is formulated on the basis of excessive dorsal flexion of the head, very short and deformed cervical and thoracic spine and a General shortening of the fetus. In many cases, prenatally diagnosed, there was a high level of alpha-fetoprotein and / or polyhydramnios. There is evidence that the earliest diagnosis was made in 13 weeks.
Iniencephaly manifests itself in different anomalies: a defect of the head, prolapse of the brain through an enlarged foramen Magnum, sharp lordosis in the cervical spine, microencephaly, polymicrogyria, ectopic glial tissue in the meninges, atresia ventricular system of the brain, cerebellar cysts, disorganization of the brain stem, disorders of blood circulation in the vessels of the neck and spine, common carotid trunk.
Iniencephaly can accompany a number of other anomalies: anencephaly, cerebral hernia, complete agenesis of the anterior cerebral bladder, congenital absence of the jaw, microstomia, SIMILIA, hydrocephalus, spina bifida. Can be cleft palate, malformations of the heart (right-sided location of the heart, common carotid artery, transposition of the great arteries), hernia hiatal or diaphragmatic agenesia, hypoplasia or hyperplasia of the lung agenesia of the umbilical artery, umbilical hernia, polycystic kidney, horseshoe kidney, excessive growth of hands, is comparable with the legs, bend the knees back, arthrogryposis, clubfoot and polyhydramnios.
The differential diagnosis is carried out with Klippel-Feil syndrome (shortening of the neck with fusion of the cervical vertebrae), anenzephalia with cervical retromarcia, cervical spinal hernia and cervical teratoma. The differential diagnosis between iniencephaly and Klippel-Feil syndrome is a difficult and controversial subject. Some authors believe that Klippel-Feil syndrome may be a mild form of iniencephaly. The difference between slotted iniencephaly and anencephalia with the spinal retroflexa appears from the very beginning. Anencephaly appears before clamping nervous brain folds on day 24 of pregnancy. On the other hand, iniencephaly develops after closed brain tube.
Which doctors should be consulted if You are Iniencephaly:
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