Encephalocystocele – Uncommon Diagnosis in Prenatal Medicine

Dankovcik, Robert; Vyhnálková, Vlasta; Muranska, Stela; Kucera, E; Korpova, Maria; Plichtova, Anna; Miklošová, Mária; Ferianec, V.; Jirásek, J; Dudáš, Marek

doi:10.1159/000341569

Cited by 5 publications

(4 citation statements)

References 2 publications

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“…The locations are not randomly distributed over the neural tube ( P = 2.0*10 −5 ) but show a preference for the occipital region, vertebrae C6 till T3 and the region between T8 and S1 with a peak at L5. (Richards et al, ; Tekkok, ; Etus et al, ; Singh and Singh, ; Srinivas et al, ; Ahmad and Mahapatra, ; Vashu and Liew, ; Bear et al, ; Carmody et al, ; Dankovcik et al, ; Singh and Singh, ; Singh et al, ; Vogel et al, ; Ahmed et al, ; Herman et al, ; Leykamm et al, ; Mahalik et al, ; Meuli et al, ; Sarici et al, ; van Aalst et al, ; Yang et al, ; De la Calle et al, ; Garg et al, ; Gressot et al, ; Hawasli et al, ; Leoni et al, ; Meadows and Hayes, ; Meunier et al, ; Perez da Rosa et al, ; Anand and Mahmoud, ; Canaz et al, ; Hanaei et al, ; Paul et al, ; Radtke et al, ; Ramdurg et al, ; Sargar et al, ; Wood et al, ; Arishima et al, ; Clark and Davidson, ; Dickman et al, ; Dorum et al, ; Santos et al, ; Sharma et al, ; Zhou and Zheng, ). [Color figure can be viewed at http://wileyonlinelibrary.com]…”

Section: Materials and Methods And Resultsmentioning

confidence: 99%

Single‐site neural tube closure in human embryos revisited

et al. 2017

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Since the multi-site closure theory was first proposed in 1991 as explanation for the preferential localizations of neural tube defects, the closure of the neural tube has been debated. Although the multi-site closure theory is much cited in clinical literature, single-site closure is most apparent in literature concerning embryology. Inspired by Victor Hamburgers (1900-2001) statement that "our real teacher has been and still is the embryo, who is, incidentally, the only teacher who is always right", we decided to critically review both theories of neural tube closure. To verify the theories of closure, we studied serial histological sections of 10 mouse embryos between 8.5 and 9.5 days of gestation and 18 human embryos of the Carnegie collection between Carnegie stage 9 (19-21 days) and 13 (28-32 days). Neural tube closure was histologically defined by the neuroepithelial remodeling of the two adjoining neural fold tips in the midline. We did not observe multiple fusion sites in neither mouse nor human embryos. A meta-analysis of case reports on neural tube defects showed that defects can occur at any level of the neural axis. Our data indicate that the human neural tube fuses at a single site and, therefore, we propose to reinstate the single-site closure theory for neural tube closure. We showed that neural tube defects are not restricted to a specific location, thereby refuting the reasoning underlying the multi-site closure theory. Clin. Anat. 30:988-999, 2017. © 2017 Wiley Periodicals, Inc.

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Section: Materials and Methods And Resultsmentioning

confidence: 99%

Single‐site neural tube closure in human embryos revisited

et al. 2017

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“…Other authors, based on limited information obtained from one or two cases, [11][12][13][14] presented fetal MRI findings confirming the multiple brain anomalies associated with cephaloceles, including those involving the posterior fossa and brainstem. In a larger study, Kasprian et al 15 studied retrospectively the brain anatomy in 14 fetuses with occipital cephalocele, demonstrating a high anatomical F I G U R E 2 Magnetic resonance imaging at 34 weeks' gestation in a fetus with closed congenital cephalocele.…”

Section: Discussionmentioning

confidence: 99%

“…first suggested the potential pathophysiologic association between Chiari III and Chiari II malformations at a time in which the relevance of the defect coverage and leakage of CSF were not fully recognized. Other authors, based on limited information obtained from one or two cases, 11–14 presented fetal MRI findings confirming the multiple brain anomalies associated with cephaloceles, including those involving the posterior fossa and brainstem. In a larger study, Kasprian et al 15 .…”

Section: Discussionmentioning

confidence: 99%

Prenatal intracranial hypotension syndrome in congenital cephalocele: Insights into pathophysiologic mechanisms and importance of defect coverage

et al. 2022

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Objective To compare specific fetal cranial and cerebral findings indicative of prenatal intracranial hypotension (PICH) syndrome between open and closed cephaloceles. Methods Two groups of fetuses with cephalocele who underwent magnetic resonance imaging scan were selected based on the defect coverage: covered (“closed cephalocele” group, n = 4) and uncovered by skin (“open cephalocele” group, n = 8). The presence of signs associated with PICH syndrome was evaluated and findings compared between groups. Results Cases from the open cephalocele group showed statistically significant differences in comparison with the closed cephalocele group regarding reduction of the interpeduncular angle (p = 0.006), reduced amount of cerebrospinal fluid in the subarachnoid space (p = 0.01), collapsed/severely reduced fourth ventricle (p = 0.03), cephalocele content (p = 0.03), and identification of a vector traction (p = 0.03). There were no differences in the presence of cerebellar tonsillar descent, obstructive ventriculomegaly, and presence of the lemon sign. In comparison with gestational age‐matched controls, only the biparietal diameter but not the head circumference was significantly smaller in both the open and closed cephalocele groups (p < 0.05). Conclusion Congenital cephaloceles present distinct imaging behavior depending on the defect coverage. Therefore, the classification of cephalocele should include, in addition to location and content, the presence or absence of skin fully covering the defect.

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“…Although postnatal MRI features of meningoencephaloceles have been systematically analyzed [12], prenatal MRI data of these defects are limited to rare case reports [13,14,15,16,17,18,19,20,21,22]. Due to the absence of systematically assessed imaging data, our confidence in predicting the neurological outcome in these cases is generally low.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Imaging of Occipital Encephaloceles

Kasprian

Paldino²,

Mehollin-Ray³

et al. 2014

Fetal Diagn Ther

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Introduction: This retrospective study aims to describe systematically the fetal cerebral MR morphology in cases with occipital meningoencephaloceles using standard and advanced fetal MRI techniques. Material and Methods: The 1.5-tesla MR examinations (T1- and T2-weighted imaging, echo planar imaging, EPI, diffusion-weighted imaging, DWI) of 14 fetuses with occipital/parietal meningoencephaloceles were retrospectively analyzed for the classification of anatomic characteristics. A diffusion tensor sequence was performed in 5 cases. Results: In 9/14 cases the occipital lobes were entirely or partially included in the encephalocele sac. Typical features of Chiari III malformation were seen in 6/14 cases. The displaced brain appeared grossly disorganized in 6/14. The brainstem displayed abnormal ‘kinking'/rotation (3/14), a z-shape (1/14) and/or a molar tooth-like configuration of the midbrain (3/14). Tractography revealed the presence and position of sensorimotor tracts in 5/5 and the corpus callosum in 3/5. DWI was helpful in the identification of a displaced brain (in 8/9). EPI visualized the anatomy of draining cerebral veins in 7/9 cases. Clinical (9/14) and MRI (7/14) follow-up data are presented. Discussion: Encephaloceles show a wide range of morphological heterogeneity. Fetal MRI serves as an accurate tool in the visualization of brainstem, white matter pathway and cerebral venous involvement and facilitates the detection of specific underlying syndromes such as ciliopathies.

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Encephalocystocele – Uncommon Diagnosis in Prenatal Medicine

Cited by 5 publications

References 2 publications

Single‐site neural tube closure in human embryos revisited

Single‐site neural tube closure in human embryos revisited

Prenatal intracranial hypotension syndrome in congenital cephalocele: Insights into pathophysiologic mechanisms and importance of defect coverage

Prenatal Imaging of Occipital Encephaloceles

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