A Prenatal Diagnosis and Repair of Spina Bifida

Before the 2011 Management of Meningomyelocele Study (MOMS) was published, the standard of care for SB was surgical closure of the defect shortly after birth. The MOMS trial showed that prenatal repair could limit damage to exposed spinal contents, arrest spinal fluid leakage, reverse hindbrain herniation, and improve fetal outcomes. Repair,usually between 19 and 25 weeks gestation is done by hysterotomy or a laparoscopic procedure

Spontaneous syrinx resolution in patient with Chiari I malformation: illustrative case

BACKGROUIND Chiari malformations include a spectrum of congenital hindbrain herniation syndromes. In patients with the most common subtype, Chiari malformation Type I, 50% to 75% develop a syrinx. The pathogenesis of syringomyelia is not well understood, with multiple theories outlined in the literature. Although the presence of a syrinx in a patient with Chiari malformation is generally accepted as an indication for surgical intervention, there are documented cases of spontaneous resolution that support a more conservative approach to management. OBSERVATIONS The authors reported a case of spontaneous resolution of a cervical syrinx in an adult with an unchanged Chiari malformation. LESSONS Given the possibility of spontaneous resolution over time, the authors believe a more conservative approach of observation with periodic surveillance, magnetic resonance imaging, and neurological examination should be considered in the management of a patient with a Chiari malformation and associated syringomyelia.

Functional and morphological changes in hypoplasic posterior fossa

Background The knowledge of the development and the anatomy of the posterior cranial fossa (PCF) is crucial to define the occurrence and the prognosis of diseases where the surface and/or the volume of PCF is reduced, as several forms of craniosynostosis or Chiari type I malformation (CIM). To understand the functional and morphological changes resulting from such a hypoplasia is mandatory for their correct management. The purpose of this article is to review the pertinent literature to provide an update on this topic. Methods The related and most recent literature addressing the issue of the changes in hypoplasic PCF has been reviewed with particular interest in the studies focusing on the PCF characteristics in craniosynostosis, CIM, and achondroplasia. Results and conclusions In craniosynostoses, namely, the syndromic ones, PCF shows different degrees of hypoplasia, according to the different pattern and timing of early suture fusion. Several factors concur to PCF hypoplasia and contribute to the resulting problems (CIM, hydrocephalus), as the fusion of the major and minor sutures of the lambdoid arch, the involvement of the basal synchondroses, and the occlusion of the jugular foramina. The combination of these factors explains the variety of the clinical and radiological phenotypes. In primary CIM, the matter is complicated by the evidence that, in spite of impaired PCF 2D measurements and theories on the mesodermal defect, the PCF volumetry is often comparable to healthy subjects. CIM is revealed by the overcrowding of the foramen magnum that is the result of a cranio-cerebral disproportion (altered PCF brain volume/PCF total volume). Sometimes, this disproportion is evident and can be demonstrated (basilar invagination, real PCF hypoplasia); sometimes, it is not. Some recent genetic observations would suggest that CIM is the result of an excessive growth of the neural tissue rather than a reduced growth of PCF bones. Finally, in achondroplasia, both macrocephaly and reduced 2D and 3D values of PCF occur. Some aspects of this disease remain partially obscure, as the rare incidence of hydrocephalus and syringomyelia and the common occurrence of asymptomatic upper cervical spinal cord damage. On the other hand, the low rate of CIM could be explained on the basis of the reduced area of the foramen magnum, which would prevent the hindbrain herniation.

Hindbrain Herniation and Banana and Lemon Sign After Open Fetal Myelomeningocele Repair – When Do These Signs Disappear and is Shunting Predictable?

Purpose The aim was to describe the sonographic follow-up of hindbrain herniation (HH), the banana and lemon sign after fetal myelomeningocele (fMMC) repair, and the time of disappearance of these signs after the intervention, and to investigate any predictive value for the necessity of shunting during the infant’s first year of life. Additionally, the sonographic evolution of the transcerebellar diameter (TCD) before and after fetal intervention was assessed. Patients and Methods The first 50 patients that underwent fMMC repair at Zurich Center for Fetal Diagnosis and Therapy (www.swissfetus.ch) were included in this study. Sonographic scans performed weekly after fMMC repair focusing on HH and banana and lemon signs were analyzed and compared between the shunted and the non-shunted group. ROC curves were generated for the time intervals of resolution of the signs in order to show their predictive accuracy for the need for shunting until 1 year of age. Results HH resolved in 48 fetuses (96 %) before delivery. The sonographic disappearance of HH within the first two weeks after fMMC repair was associated with a significantly lower incidence of shunt placement (OR 0.19; 95 % CI 0.4–0.9) during the first year of life (p = 0.03). All fetuses with persistent HH before delivery received a shunt. TCD growth was observed in all fetuses. Conclusion The reversibility of HH within two weeks after fMMC repair is associated with an 80 % lower incidence of shunt placement during the infant’s first year of life. Moreover, it allows the cerebellum to grow and to normalize its configuration.