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Chiari 1 malformation and hydrocephalus are frequent findings in multi-suture and syndromic craniosynostosis patients. In this article, we review the pathogenesis, clinical significance, and management options for these conditions with comments from our own experience. The role of premature fusion of skull base sutures leading to a crowded posterio...
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Context 1
... both fronto-orbital advancement and occipital remodeling are planned, one-step or multiple-step procedures can be employed. The one-step procedure is performed with the child in the "modified prone position," described by Pollack et al. [36] In our unit, older children undergo posterior vault expansion by DO. [35] DO is a process whereby traction is applied between two surfaces of cut bone gradually increasing the distance between the fragments and thereby promoting bone growth to fill in the divide left behind [ Figure 1]. By progressively expanding the distance between the fusing ends of the calvarial bones the intracranial volume may be gradually increased, allowing subsequent fusion to occur in a more normalized position. ...
Similar publications
The cloverleaf skull deformity remains among the most complicated craniofacial conditions to successfully manage. Many cases achieve largely unsatisfactory outcomes due to the requirement for frequent reoperation on the cranial vault and failure to deal with all the elements of the craniofaciostenosis in a timely fashion. Early cranial vault surger...
Citations
... In our series, this phenomenon (ventriculomegaly changing postoperatively to hydrocephalus) occurred only in the two Apert patients with a cloverleaf skull condition, and ventricular volume was stabilized after the patients were shunted. Placement of a VP shunt, preferably a programmable high-pressure valve with an anti-siphon device [23], was our choice to prevent rapid decrease of ventricular volume and sudden reduction of CSF pressure causing intracerebral hemorrhage [24,25]. ...
Purpose
Posterior vault distraction osteogenesis (PVDO) has been utilized during the past 15 years to treat a variety of clinical features commonly presented by patients with Apert syndrome. The objective of this study is to determine the efficacy of PVDO in addressing both elevated intracranial pressure (ICP) and ectopia of the cerebellar tonsils (ECT) in young Apert patients. In addition, we aimed to determine the prevalence of hydrocephalus in Apert syndrome patients who underwent PVDO.
Methods
A retrospective study was made with a cohort of 40 consecutive patients with syndromic craniosynostosis (SC), previously diagnosed with Apert syndrome, who underwent PVDO between 2012 and 2022, and thereafter received at least 1 year of follow-up care. Demographic data and diagnosis, along with surgical and outcome data, were verified using medical records, clinical photographs, radiologic examination, and interviews with the parents of all cohort patients.
Results
The average patient age when PVDO was performed was 12.91 ± 10 months. The average posterior advancement distance achieved per patient was 22.68 ± 5.26 mm. The average hospital stay per patient was 3.56 ± 2.44 days. The average absolute and relative blood transfusion volumes were 98.47 ml and 17.63 ml/kg, respectively. Although five patients (14%) presented ECT preoperatively, this condition was completely resolved by PVDO in three of these five patients. One of the three patients whose ECT had completely resolved presented syringomyelia postoperatively, requiring subsequent extra dural foramen magnum decompression. All of the remaining four patients were asymptomatic for ECT for at least 1 year of follow-up, and none of these four patients required any additional treatments to address ECT. Two patients presented hydrocephalus requiring ventriculoperitoneal shunt placement.
Conclusions
This study demonstrates that PVDO both reduces diagnosed elevated ICP symptoms and is partially effective in treating ECT in Apert syndrome patients. Hydrocephalus in Apert syndrome is an uncommon feature. The effectiveness of PVDO in addressing hydrocephalus is uncertain.
... Type 2 has a worse prognosis; children develop a cloverleaf skull, proptosis, severe midface hypoplasia, cognitive and developmental delay, and conductive hearing loss. In most cases, these children are also hydrocephalic [8,9]. Type 3 is associated with severe midfacial hypoplasia, significant airway obstruction, and neurological problems similar to those of type 2 [3,8]. ...
... It can derive from stenosis of the jugular veins and transverse and sigmoid sinuses, herniation of the amygdala, or as a result of respiratory pathology, as discussed in a previous section [13][14][15]. In addition, mechanical obstruction of CSF outflow might be linked to a small size of the posterior intracranial cavity and/or skull-brain malformation [9]. Clinical symptoms of hydrocephalus include drowsiness, vomiting, decreased appetite, increased head circumference, and prominent scalp veins [3]. ...
... Equally to hydrocephalus, Chiari dysplasia is a severe pathological condition, requiring constant monitoring and, in some cases, immediate treatment [10]. Chiari dysplasia, i.e., the displacement of a small part of the posterior brain toward the base of the skull, may be the result of two factors: increased pressure in the occipital crest region (a controversial factor) and the size of the posterior intracranial fossa [9]. ...
Craniosynostosis is a fetal skull condition that occurs when one or multiple sutures merge prematurely. This leads to limited growth perpendicular to the fused suture, which results in compensatory growth of cranial bones parallel to it. Syndromic craniosynostosis ensues when the cranial deformity is accompanied by respiratory, neurological, cardiac, musculoskeletal, and audio-visual abnormalities. The most common syndromes are Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen syndromes and craniofrontonasal syndrome. Each of these syndromes has distinct genetic mutations that contribute to their development. Mutations in genes such as FGFR, TWIST, and EFNB1 have been identified as playing a role in the development of these syndromes. Familiarity with the genetic basis of each syndrome is not only essential for identifying them but also advantageous for current pharmacological investigations. Surgical treatment is often necessary for syndromic craniosynostosis to correct the cranial deformities. Advances have been made in surgical techniques for each specific syndrome, but further research is needed to develop personalized approaches that address the unique symptoms and complications of individual patients, particularly those related to neurological and respiratory issues. This group of syndromes included in cranial synostosis presents significant educational and clinical interest due to the wide range of symptoms and the variable course of the disease, especially in the last decades when crucial advances in diagnosis and treatment have been achieved, altering the prognosis as well as the quality of life of these patients. In summary, this article provides a comprehensive overview of syndromic craniosynostosis, including the genetic mutations associated with each syndrome and the surgical treatment options available.
... Altering any of these factors will change ICP [12]. Several elements, including cranio-cerebral disproportion, hydrocephalus, CSF outflow resistance, venous hypertension, and developing sleep apnea in craniosynostosis, play major roles in developing increased ICP in multisuture craniosynostosis ( Fig. 6) [6,[13][14][15][16]. The cranio-cerebral disproportion resulting in insufficient intracranial spaces underpinning the growing brain subsequently relates to progressive increased ICP [14]. ...
The cloverleaf skull deformity remains among the most complicated craniofacial conditions to successfully manage. Many cases achieve largely unsatisfactory outcomes due to the requirement for frequent reoperation on the cranial vault and failure to deal with all the elements of the craniofaciostenosis in a timely fashion. Early cranial vault surgery without addressing the cranial base deformity and its attendant cerebrospinal fluid flow changes is invariably challenging and disappointing. A recent focus on the expansion of the posterior cranial vault as a primary procedure with the greater volume change allows a delay in fronto-orbital advancement and reduced need for repeat surgery. We herein describe three cases of complex multisuture craniosynostosis with cloverleaf skull deformity who underwent neonatal posterior cranial vault decompression along with foramen magnum decompression. Our report examines the safety and rationale for this pre-emptive surgical approach to simultaneously deal with the cranial vault and craniocervical junction abnormalities and thus change the early trajectory of these complex cases.
... In these cases, treatment mainstay consists in cranial volume expansion being evident from the literature how such a maneuver could lead to tonsillar herniation and syrinx resolution [101,102]. There are different kind of expansion being the occipital one the more commonly used. ...
Background and definition
In recent years thanks to the growing use of radiological assessment, Chiari I malformation became one of the major diseases for a neurosurgeon to deal with. CIM can be classified according to the extent of cerebellar tonsil tip into the foramen magnum being a protrusion over five mm considered pathological. Such a disease is a heterogeneous condition with a multifactorial pathogenetic mechanism that can subdivided into a primary and secondary form. Regardless of the form, it seems that CIM is the result of an imbalance between the volume of the braincase and its content. Acquired CIMs are secondary to conditions causing intracranial hypertension or hypotension while the pathogenesis of primary forms is still controversial.
Pathogenesis and treatment
There are several theories in the literature but the most accepted one implies an overcrowding due to a small posterior cranial fossa. While asymptomatic CIM do not need treatment, symptomatic ones prompt for surgical management. Several techniques are proposed being the dilemma centered in the need for dural opening procedures and bony decompression ones.
Conclusion
Alongside the paper, the authors will address the novelty presented in the literature on management, diagnosis and pathogenesis in order to offer a better understanding of such a heterogeneous pathology.
