Cerebral Abnormalities in Spina Bifida: A Neuropathological Study

Introduction Spina bifida (SB) is the most common neural tube defect in humans. Here, we analyzed systematically the neuropathological findings of the brain in SB cases. Methods 79 cases with SB aperta (SBA) and 6 cases with SB occulta (SBO) autopsied at the Charité Neuropathology from 1974 to 2000 were re-evaluated retrospectively. For this, case files and spinal cord as well as brain sections were studied. Results While no brain malformations were detected in SBO cases, 95% of SBA cases had brain malformations. Main brain anomalies identified were hydrocephalus (71%), Chiari II malformation (36%), heterotopia (34%), other cerebellar anomalies (36%), gyrification defects (33%), and ependymal denudation (29%). Hydrocephalus was observed as early as gestational week 17 and was highly associated to Chiari II and ependymal denudation. In 55% SBA was accompanied by further anomalies not primarily affecting the CNS. Conclusion We confirm using neuropathologic methods brain malformations in most SBA but none in SBO cases. In addition to our previous radiologic study, we now demonstrate the high prevalence of cerebellar malformations and cerebral heterotopias in SBA. The early detection of hydrocephalus and Chiari II malformation in fetuses raises the question whether these arise parallel rather than in strict temporal sequence.

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Trans-amniotic stem cell therapy (TRASCET) minimizes Chiari-II malformation in experimental spina bifida

Journal of Pediatric Surgery ◽

10.1016/j.jpedsurg.2015.03.034 ◽

2015 ◽

Vol 50 (6) ◽

pp. 1037-1041 ◽

Cited By ~ 40

Author(s):

Beatrice Dionigi ◽

Joseph A. Brazzo ◽

Azra Ahmed ◽

Christina Feng ◽

Yaotang Wu ◽

...

Keyword(s):

Stem Cell ◽

Spina Bifida ◽

Cell Therapy ◽

Stem Cell Therapy ◽

Chiari Ii Malformation ◽

Chiari Ii

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Care management and contemporary challenges in spina bifida: a practice preference survey of the American Society of Pediatric Neurosurgeons

Journal of Neurosurgery Pediatrics ◽

10.3171/2019.5.peds18738 ◽

2019 ◽

Vol 24 (5) ◽

pp. 539-548 ◽

Cited By ~ 2

Author(s):

Elizabeth N. Alford ◽

Betsy D. Hopson ◽

Frederick Safyanov ◽

Anastasia Arynchyna ◽

Robert J. Bollo ◽

...

Keyword(s):

Spina Bifida ◽

Tethered Cord ◽

Transition Program ◽

Shunt Revision ◽

Csf Leak ◽

Urinary Continence ◽

Ventricular Enlargement ◽

Chiari Ii Malformation ◽

Chiari Ii ◽

American Society

OBJECTIVENeurosurgical management preferences related to myelomeningocele (MMC) care demonstrate significant variability. The authors sought to evaluate variability in practice patterns across a group of senior pediatric neurosurgeons. The purpose of this study was to identify the extent of variability and of consensus with regard to neurosurgical management of MMC and associated hydrocephalus, Chiari II malformation, and tethered spinal cord.METHODSA 43-question survey was distributed electronically to the members of the American Society of Pediatric Neurosurgeons (ASPN). The survey covered domains such as clinic case volume, newborn management, hydrocephalus management, transition to adulthood, clinical indications for shunt revision, Chiari II malformation decompression (C2MD), and tethered cord release (TCR). Ninety responses were received from 200 active ASPN members, for an overall response rate of 45%.RESULTSThe majority (58%) of respondents closed 5–15 new cases of open MMC per year. Nearly all (98%) respondents perform back closure within 48 hours of birth, with the majority imbricating the placode and striving for a 3- to 4-layer closure. The most consistent indications for surgical intervention in early hydrocephalus were CSF leak from the back (92%), progressive ventricular enlargement (89%), and brainstem symptoms, including apnea/bradycardia (81%), stridor (81%), and dysphagia (81%). Eighty percent of respondents indicated that spina bifida care is delivered through multidisciplinary clinics, with neurosurgery, orthopedic surgery, urology, physical therapy, and social work as the most common disciplines included. One-third of clinics see both pediatric and adult patients, one-third offer a formal transition program to adult care, and one-third have no transition program. The vast majority of respondents offer prenatal counseling (95%), referral for in utero closure (66%), and endoscopic third ventriculostomy/choroid plexus cauterization (72%). Respondents were more willing to perform shunt revision for symptoms alone than for image changes alone. An asymptomatic broken shunt without ventricular enlargement produced responses evenly divided between observation, intervention, and further investigation. Operative shunt exploration was always performed before C2MD by 56% of respondents and performed sometimes by 40% of respondents. Symptoms of brainstem dysfunction were the strongest clinical triggers reported for C2MD, while declines in urinary continence, leg strength or sensation, or ambulation were the most consistent thresholds for TCR.CONCLUSIONSSignificant disparities exist surrounding key areas of decision making regarding treatment for patients with MMC, though there are central areas of agreement among ASPN members. Additionally, there is significant variation in the clinical management of chronic hydrocephalus, C2MD, and TCR, underscoring the need for further research into these specific areas.

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The Cerebellum in Children with Spina Bifida and Chiari II Malformation: Quantitative Volumetrics by Region

The Cerebellum ◽

10.1007/s12311-010-0157-x ◽

2010 ◽

Vol 9 (2) ◽

pp. 240-248 ◽

Cited By ~ 34

Author(s):

Jenifer Juranek ◽

Maureen Dennis ◽

Paul T. Cirino ◽

Lyla El-Messidi ◽

Jack M. Fletcher

Keyword(s):

Spina Bifida ◽

Chiari Ii Malformation ◽

Chiari Ii

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Temporal lobe herniation of developmental origin: a novel radiological association with open spina bifida and Chiari II malformation

Child s Nervous System ◽

10.1007/s00381-009-1068-3 ◽

2009 ◽

Vol 26 (3) ◽

pp. 277-278 ◽

Cited By ~ 5

Author(s):

Suhas Udayakumaran ◽

Liat Ben Sira ◽

Shlomi Constantini

Keyword(s):

Spina Bifida ◽

Temporal Lobe ◽

Chiari Ii Malformation ◽

Developmental Origin ◽

Chiari Ii ◽

Open Spina Bifida

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Jean Cruveilhier and his contributions to understanding childhood hydrocephalus, Chiari II malformation, and spina bifida

Child s Nervous System ◽

10.1007/s00381-017-3529-4 ◽

2017 ◽

Vol 34 (9) ◽

pp. 1613-1615 ◽

Cited By ~ 1

Author(s):

Michele Davis ◽

Marios Loukas ◽

R. Shane Tubbs

Keyword(s):

Spina Bifida ◽

Chiari Ii Malformation ◽

Chiari Ii ◽

Childhood Hydrocephalus

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Rückverlagerung der Chiari II-Malformation innerhalb weniger Tage nach minimal-invasivem Patchverschluss bei Spina bifida als Hinweis für einen effektiven Verschluss der Fehlbildung

Ultraschall in der Medizin - European Journal of Ultrasound ◽

10.1055/s-0032-1322725 ◽

2012 ◽

Vol 33 (S 02) ◽

Author(s):

J Degenhardt ◽

A Kawecki ◽

C Enzensberger ◽

R Stressig ◽

R Axt-Fliedner ◽

...

Keyword(s):

Spina Bifida ◽

Chiari Ii Malformation ◽

Chiari Ii

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Impact of Brain Malformations on Neurodevelopmental Outcome in Children with a History of Prenatal Surgery for Open Spina Bifida

Fetal Diagnosis and Therapy ◽

10.1159/000517972 ◽

2021 ◽

pp. 1-8

Author(s):

David-Alexander Wille ◽

Beth Padden ◽

Ueli Moehrlen ◽

Beatrice Latal ◽

Sonja Schauer ◽

...

Keyword(s):

Spina Bifida ◽

Neurodevelopmental Outcome ◽

Cognitive Outcome ◽

Composite Score ◽

Third Ventriculostomy ◽

Ventricular Size ◽

Brain Malformations ◽

Motor Testing ◽

Chiari Ii ◽

Prenatal Surgery

Introduction: This retrospective study investigates brain malformations and their impact on neurodevelopmental outcome in children after prenatal surgery for spina bifida (SB). Methods: Sixty-one patients were included. On neonatal MRI, SB-associated brain malformations were assessed. Ventricular size, ventriculo-peritoneal shunt (VPS), and endoscopic third ventriculostomy (ETV) were also documented. Neurodevelopment was assessed with the Bayley-III and correlated with brain malformations, ventricular size, and VPS/ETV placement. Results: Chiari II malformation was detected in all patients. Corpus callosum (CC) abnormality was noted in 40%, heterotopies in 35%, and cerebellar parenchymal defects in 11%. 96% had ventriculomegaly; in 46%, VPS/ETV was performed. Cognitive and language testing yielded results in the low-average range (Bayley-III: Cognitive Composite Score 93.6, Language Composite Score 89.7), motor testing was below average (Motor Composite Score 77.4). CC abnormalities, heterotopies, and cerebellar defects were not associated with poorer Bayley-III scores, whereas patients with severe ventriculomegaly performed poorer in all subtests, significantly so for the language composite score. Patients requiring intervention for hydrocephalus had significantly lower scores in motor testing. Discussion/Conclusion: Additional brain malformations in open SB do not seem to have an impact on cognitive function at 2 years of age. Severe ventriculomegaly is a risk factor for poorer cognitive outcome; hydrocephalus surgery adds an additional risk for delayed motor function.

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