Chiari malformation type I: what information from the genetics?

Capra, Valeria; Iacomino, Michele; Accogli, Andrea; Pavanello, Marco; Zara, Federico; Cama, Armando; Marco, Patrizia De

doi:10.1007/s00381-019-04322-w

Cited by 17 publications

(9 citation statements)

References 52 publications

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“…In recent years, the neuroimaging morpho-volumetric studies have been more and more integrated by genetic studies. First, these investigations supported the hypothesis about a genetic origin of CIM, due to the familiar aggregation or clustering and the occurrence of CIM in some syndromes (e.g., Klippel-Feil syndrome, primary basilar impression, Goldenhar syndrome) [38]. Moreover, animal models and studies on some human hereditary skeletal diseases allowed to identify some molecular pathways involved in the skull growth and ossification (FGF, Hedgehog, BMP, Wnt pathways), which could contribute to explain a possible PCF mesoderm defect in CIM [39].…”

Section: Contribution By the Geneticssupporting

confidence: 62%

Functional and morphological changes in hypoplasic posterior fossa

et al. 2021

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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.

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Section: Contribution By the Geneticssupporting

confidence: 62%

Functional and morphological changes in hypoplasic posterior fossa

et al. 2021

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“…15 Currently, genes such as CDX1, FLT1, ALDH1A2, GDF3, GDF6, EP300, DKK1, and BMP1 have been found correlated with CM-1 in familial aggregation. 16,17 However, no integrate theory explains all of the malformations seen in each type of CMs.…”

Section: Discussionmentioning

confidence: 99%

“…CM patients are postulated to have deficits in neural elements combined with the anomalies of the posterior fossa 15. Currently, genes such as CDX1, FLT1, ALDH1A2, GDF3, GDF6, EP300, DKK1 , and BMP1 have been found correlated with CM-1 in familial aggregation 16,17. However, no integrate theory explains all of the malformations seen in each type of CMs.…”

Section: Discussionmentioning

confidence: 99%

One-Year Outcomes of Chiari Type 1 Malformation and Syringomyelia Treated With Posterior Fossa Decompression

Han¹,

Gao²,

Li³

et al. 2021

Clinical Spine Surgery: A Spine Publication

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Objective: The objective of this study was to evaluate posterior fossa structural differences between Chiari type 1 malformation with and without syringomyelia, and assess data of the improvement of syringomyelia after different surgical options.Summary of Background Data: Syringomyelia is among the most common concomitant complications of Chiari malformation (CM). However, posterior fossa decompression cannot definitely make the syringomyelia disappear even in the long term. Also, there are no universal criteria defining improvement in syrinx.Materials and Methods: All admitted CM patients at our institution from 2013 to 2018 with a 1-year follow-up were analyzed. Patients without syringomyelia were compared with those who had syringomyelia. Patients were divided into 3 groups according to the procedures performed: posterior fossa decompression versus posterior fossa decompression with duralplasty (PFDD) versus PFDD plus obex unblocking. Divergent prognosis of syringomyelia was defined as a 3-category ordinal variable. A multivariable ordinal regression model was used to estimate the relationship between patient variables and increased odds for better resolution of syringomyelia.Results: No significant linear difference in bony structure was found between syringomyelia and nonsyringomyelia patients. Among syringomyelia patients, the regression analysis demonstrated that patients with shorter posterior fossa height (P = 0.032), lower Pavlov ratio (P = 0.029), and obex unblocking (vs. PFDD, P < 0.001; vs. posterior fossa decompression, P = 0.037) were more likely to gain a better resolution of syringomyelia.Conclusions: Syringomyelia of CM patients may not simply originate from single linear anatomic variation. Patients with shorter posterior fossa height and lower Pavlov ratio received better syringomyelia resolution. Also, unblocking the obex received better syringomyelia resolution compared with duraplasty alone and bony decompression alone with the avoidance of increased postoperative complications and worse clinical outcomes.

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“…To date, only 13 cases of 5q11.2 microdeletion have been reported [2]. Although no different phenotype has been identified for this microdeletion syndrome, published cases share many common clinical features [3,4]. Dysplastic-ears, micrognathia, hypermetropia, central nervous system (CNS) malformations were evaluated as concurrent findings with the literature in our patient.…”

mentioning

confidence: 82%