Treatment strategies and prognostic outcomes in craniosynostosis with concurrent hydrocephalus: a case series

Introduction

Craniosynostosis, a common congenital craniofacial malformation, is caused by premature ossification and closure of one or more cranial sutures (1). Premature closure not only impedes normal skull development but is also likely to result in various neurological complications such as increased intracranial pressure (ICP), hydrocephalus, and neuropsychological dysfunction, leading to neurological damage (2). Hydrocephalus is characterized by an imbalance between the inflow and outflow of cerebrospinal fluid (CSF), resulting in excessive accumulation of CSF in the ventricles and/or subarachnoid space. This accumulation causes ventricular dilation, increased head circumference, and elevated ICP.

The co-occurrence of hydrocephalus in patients with craniosynostosis is noted, yet the relationship among these conditions, along with pathogenic factors, treatment principles, and treatment sequence, remains controversial (1,3-5). To investigate the clinical features, management approaches, and outcomes of craniosynostosis associated with hydrocephalus, we performed a retrospective analysis of nine cases with follow-up. We present this article in accordance with the PROCESS reporting checklist (available at https://tp.amegroups.com/article/view/10.21037/tp-2026-0231/rc).

Case presentation

Patient data

Non-consecutive data from 9 children diagnosed with craniosynostosis and hydrocephalus, treated at the Department of Pediatric Neurosurgery, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine between January 2013 and December 2021, were analyzed.

During the study period, a total of 11 patients with both craniosynostosis and hydrocephalus were identified. Cases were included if they met the following criteria: (I) confirmed diagnosis of craniosynostosis and hydrocephalus; (II) availability of essential clinical data, and (III) receipt of surgical management in our medical center. Cases with substantial missing data were excluded, while cases with limited missing values were retained and handled using data imputation methods. Ultimately, 9 cases met the inclusion criteria and were included in the analysis.

Variables including age at diagnosis, gender, family history, maternal pregnancy history, initial symptoms, symptom severity, clinical and imaging examinations, associated conditions, treatment approaches, and outcomes were examined. Head circumference was assessed at admission and evaluated according to the World Health Organization (WHO) Child Growth Standards. Age-specific percentiles were estimated, and head circumference was categorized as follows: values below the 3rd percentile were defined as small, values between the 3rd and 97th percentiles were considered normal, and values above the 97th percentile were defined as increased. All procedures performed in this study were in accordance with the Declaration of Helsinki and its subsequent amendments. This study was approved by the Ethics Committee of Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine (Approval No. XHEC-D-2021-119). Written informed consent was obtained from the guardians for the publication of this case series and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Inclusion criteria

Diagnostic criteria for craniosynostosis

In this study, the diagnosis of craniosynostosis was established based on a combination of clinical evaluation and imaging findings. All patients underwent physical examination to assess cranial deformities, including skull shape, presence of palpable ridging along sutures, orbital asymmetry, and midfacial abnormalities. All patients received cranial computed tomography (CT) scans with three-dimensional reconstruction, which were used to confirm premature suture fusion and evaluate cranial morphology. Brain magnetic resonance imaging (MRI) was performed when necessary to assess intracranial structures and associated abnormalities. For suspected syndromic cases, genetic evaluation was performed when clinically indicated (6,7).

Diagnostic criteria for hydrocephalus

In this study, hydrocephalus was diagnosed based on both clinical manifestations and neuroimaging findings. Clinical indicators included symptoms of increased ICP, such as headache, nausea, vomiting, and papilledema. All patients underwent cranial CT or MRI, and ventricular enlargement was defined as an Evans index >0.3 or temporal horn width ≥2 mm, accompanied by disproportionate enlargement of the ventricular system relative to the cerebral sulci. Patients with ventricular enlargement secondary to brain atrophy or other intracranial pathologies were excluded. The diagnosis was confirmed when clinical findings were consistent with imaging results (8,9).

Assessment of raised ICP

In this study, ICP was assessed preoperatively using lumbar puncture to measure CSF opening pressure. Preoperative imaging was used to exclude acute brain herniation or severe intracranial hypertension, ensuring the safety of lumbar puncture in patients with Chiari malformation. In children aged 8 months to 4 years, raised ICP was defined as a CSF opening pressure >20 cm·H₂O or above the normal age-adjusted range (>15–18 cm·H₂O), in combination with relevant clinical signs. Postoperatively, ICP status was evaluated based on clinical symptom changes and neuroimaging findings.

Surgical methods

Key points of craniosynostosis surgery

The choice of surgical method depends on several factors including the child’s age, craniosynostosis type, deformity location and severity, presence of increased ICP, the child’s overall health, parental preferences, and the need for secondary surgeries.

In this study, patients with isolated sagittal suture craniosynostosis underwent total calvarial remodeling (cranial vault remodeling) via biparietal widening and anteroposterior shortening. During the procedure, the frontal, parietal, and occipital bones were exposed, and multiple osteotomies and bone flap rearrangements were performed to correct cranial shape. Absorbable fixation materials were used, and a negative pressure drain was placed under the galea aponeurotica, typically removed 1–2 days postoperatively.

Syndromic multisuture craniosynostosis patients were managed with calvarial osteotomy and remodeling along with anterior cranial vault release and/or frontal-orbital advancement. The anterior cranial vault release was performed to address significant frontal deformities, reduce ICP, and reshape the skull, while the frontal-orbital advancement aimed to correct the orbital and fronto-orbital dysplasia. Preoperative virtual surgical planning was routinely performed to guide precise osteotomies and bone flap placement.

Surgical method of ventriculoperitoneal (VP) shunt

Preoperative CSF diversion was utilized in neonates or infants of small gestational age who had not yet been diagnosed with craniosynostosis or were not candidates for calvarial remodeling due to surgical intolerance, but presented with severe hydrocephalus. For VP shunt procedures, general anesthesia is administered and a Medtronic adjustable pressure shunt valve is used. The initial opening pressure of the shunt valve is set approximately 30 mm·H₂O below the CSF pressure measured by preoperative lumbar puncture. Postoperatively, the valve pressure was adjusted individually based on clinical symptoms and imaging findings. The proximal catheter is placed in the frontal horn of the right ventricle, with the insertion depth adjusted according to the degree of ventricular dilation, typically around 5.5 cm. The shunt valve is positioned subcutaneously on the side of diversion, preferably over a relatively stable area of the cranial bone flap. The distal catheter is then tunneled subcutaneously to the abdomen, where a straight incision below the xiphoid process allows placement beneath the liver margin. The free intraperitoneal segment of the catheter generally measures approximately 35 cm in length. Endoscopic third ventriculostomy (ETV) was not performed in this cohort, as there were no clear indications for obstructive hydrocephalus post calvarial remodeling.

Follow-up

Follow-up evaluations began 2–3 months post-surgery with regular outpatient exams and cranial CT scans, which is generally conducted every six months, with earlier visits if clinical concerns arose. Outcomes were assessed in two areas: cranial morphology and hydrocephalus. Cranial morphology was evaluated based on subjective improvement in head shape and objective CT measurements of intracranial volume. Significant improvement was defined by marked changes in both. Hydrocephalus was assessed through clinical symptoms and neuroimaging. Improvement or relief was indicated by symptom resolution and reduced ventricular size. Stable status referred to no progression, while worsening was defined by symptom recurrence or increased ventricular enlargement requiring further intervention.

Clinical manifestations

Among the nine children in this group, seven were males and two were females. seven cases involved syndromic or metabolic multi-cranial suture craniosynostosis, while two cases were non-syndromic single cranial suture craniosynostosis. These accounted for 6.1% (9/148) of the craniosynostosis patients admitted for surgery during the same period.

The ages at first visit ranged from eight to 45 months, with an average of 19.1 months. All nine patients presented with “abnormal head shape”, including scaphocephaly (sagittal synostosis), frontal bossing, brachycephaly, or proptosis (syndromic cases). One patient exhibited progressive increase in head circumference accompanied by vomiting, and one case exhibited a “progressive increase in head circumference and vomiting”. At admission, six cases had normal head circumference, two had a smaller head circumference, and one had an increased head circumference (8,9). Two cases of non-syndromic craniosynostosis were identified as sagittal suture craniosynostosis. Among the seven cases of syndromic or metabolic craniosynostosis, five were diagnosed with Crouzon syndrome, one with Apert syndrome, and one with mucolipidosis type II, all featuring multiple cranial suture craniosynostosis. All seven syndromic cases exhibited increased ICP; of the two non-syndromic cases, one showed increased ICP, while the other, despite mild hydrocephalus, displayed normal ICP on preoperative lumbar puncture. One child with mucolipidosis type II also had scoliosis. Genetic testing indicated GNPTAB mutations: c.88, c89 del. AC, heterozygous from the mother; and c.1150, c.1151 ins. TTTA, heterozygous from the father. One child with Crouzon syndrome had a history of an elder brother’s premature death. All patients had unremarkable maternal pregnancy histories, with no reported prenatal complications or known risk factors. Details are provided in Table 1.

Treatment and prognosis

Two cases of non-syndromic craniosynostosis underwent cranial suture reconstruction. In one child, hydrocephalus was not alleviated postoperatively, prompting a VP shunt three weeks later, which relieved the condition. The other child, who had mild preoperative hydrocephalus, showed improvement after the procedure.

Seven patients with syndromic craniosynostosis underwent calvarial remodeling. Among them, two patients with Crouzon syndrome had severe hydrocephalus and had previously undergone CSF diversion at 4 and 10 months of age at outside institutions, resulting in partial improvement. They were subsequently admitted to our center at 8 and 12 months of age, respectively, where cranial reconstruction was performed and the Ommaya reservoirs were removed. However, postoperative hydrocephalus worsened in both cases, necessitating VP shunt placement within 2 weeks after surgery. CSF leakage occurred in two of the seven syndromic patients. One case required lumbar cistern drainage, and the other underwent surgical repair; both were successfully resolved. Hydrocephalus in three patients was stable or partially alleviated following skull reconstruction, whereas in four patients, the condition remained significant and required VP shunt intervention (Figure 1). One patient experienced shunt obstruction after VP shunt placement and subsequently underwent revision surgery. All patients were followed up beginning 2–3 months postoperatively, with subsequent evaluations conducted at regular intervals (approximately every 6–12 months) based on clinical status. The total follow-up duration ranged from 18 to 94 months, with a mean of 53.6 months. For long-term out comes, head shape improved in all patients, with particularly significant correction of craniofacial deformities in syndromic cases. Hydrocephalus was alleviated or completely resolved in patients who did not undergo VP shunting, while those who underwent VP shunting maintained stable ventricular status. Only one patient experienced shunt obstruction, requiring reoperation, after which hydrocephalus was well controlled. In terms of growth and development, one patient with mucolipidosis Type II had developmental delay and intellectual impairment, while all other patients showed normal growth and development.

Figure 1 An eight-month-old male was admitted with abnormal facial and head shapes. An axial T1 plain scan of his head MRI (A) showed enlarged frontal horns, thinned cortex, and hydrocephalus. A sagittal T1 plain scan (B) confirmed hydrocephalus, with cerebellar tonsils displaced more than five mm below the foramen magnum. CT three-dimensional reconstruction (C,D) revealed early closure of bilateral coronal and lambdoid sutures, and part of the sagittal sutures. Significant improvement in head shape was achieved after calvarial remodeling (E), although hydrocephalus persisted. Seven months later, a second VP shunt operation was performed. A follow-up axial T1 plain scan (F) showed significant ventricular reduction. CT, computed tomography; MRI, magnetic resonance imaging; VP, ventriculoperitoneal.

Discussion

Craniosynostosis and increased ICP

Craniosynostosis, particularly syndromic types, often leads to skull deformities and may be associated with complications such as increased ICP and hydrocephalus, resulting in potential neurological and cognitive impairments (10,11). Increased ICP is more prevalent in untreated craniosynostosis involving multiple sutures (12). The incidence rates are 15–20% in single suture craniosynostosis, about 50% in multiple suture craniosynostosis, and 61–83% in syndromic craniosynostosis (13). In our study, all seven children with syndromic craniosynostosis exhibited increased ICP; of the two children with non-syndromic craniosynostosis, one had increased pressure, and the other maintained normal pressure despite mild hydrocephalus. Factors such as narrowing of the jugular foramen, disturbances in CSF dynamics, upper airway obstruction, and venous congestion may contribute to increased ICP (14,15). Young children often do not report symptoms like headaches. Signs such as bulging fontanelles and dilated jugular veins usually indicate severe ICP. Relatively, fundus examination provides a more reliable assessment of ICP, though it is challenging to perform in infants and young children.

The relationship between craniosynostosis and hydrocephalus

Numerous studies have explored the relationship between craniosynostosis and hydrocephalus (16,17). The occurrence of hydrocephalus in patients with craniosynostosis largely depends on the number, location, and type of prematurely closed cranial sutures. Collmann et al. found that among 315 patients with non-syndromic craniosynostosis, 10.2% exhibited ventricular dilation and 2.5% required VP shunt surgery; among 315 patients with syndromic craniosynostosis, 44.0% showed ventricular dilation, of which 6.3% underwent VP shunt surgery. In a larger study of 1,727 craniosynostosis cases, 8% presented with abnormal CSF hydrodynamics, and about 4% required shunt surgery (18). Smaller-scale studies indicate that increased ICP is also observed in 15–20% of children with isolated single cranial suture craniosynostosis (14,19). Abnormal CSF hydrodynamics include progressive and non-progressive ventricular dilation and subarachnoid space dilation. It is important to note that the correlation between increased ICP and cranial volume measured by CT, is poor (20). Of 989 patients treated for craniosynostosis, 64 (6.5%) had hydrocephalus, with a male to female ratio of 3.6:1. Of these, 57/64 (89%) had syndromic or multiple suture craniosynostosis, and seven cases were non-syndromic single suture craniosynostosis. Among the non-syndromic cases, five involved the sagittal suture, one the bilateral coronal sutures, and one the lambdoid suture (3). Patients with syndromic craniosynostosis may have abnormal skull base bone structures, a reduced posterior cranial fossa volume, a smaller fourth ventricle, and increased resistance to CSF outflow. Along with changes resembling Chiari Malformation Type I (CM-I) at the foramen magnum, these abnormalities impede normal CSF circulation and lead to hydrocephalus (16,21). Additionally, jugular foramen stenosis may impair intracranial venous reflux and increase venous pressure, further hindering CSF absorption. These factors collectively accelerate hydrocephalus development (21,22). Among the nine children in this study, seven were male and two female, representing 6.1% (9/148) of the craniosynostosis surgery cases during the same period. Interestingly, while most hydrocephalus cases present with an enlarged head, not all children with craniosynostosis and hydrocephalus do. In this group, one child had an enlarged head, six had normal head circumference, and two had smaller head circumference.

Management of craniosynostosis accompanied by hydrocephalus

The etiology of CSF dynamics disorders in children with craniosynostosis is complex and multifactorial. When these children present with active hydrocephalus, the optimal treatment methods and strategies remain controversial (16,22). Unless progressive hydrocephalus is diagnosed, craniosynostosis surgery is generally performed first. Post-surgery, the size of the ventricles and ICP are monitored closely to determine the need for hydrocephalus shunt surgery. Some patients with mild to moderate progressive ventricular enlargement may not exhibit worsening hydrocephalus symptoms shortly after total cranial release and expansion surgery, but long-term follow-up is essential. If hydrocephalus symptoms intensify and ventricular enlargement progresses, hydrocephalus shunt surgery becomes necessary. It is important to note that if a VP shunt is not performed prior to cranial expansion surgery, ICP may remain elevated in the short term. Special care is needed during cranial expansion surgery to maintain the integrity of the dura mater, as increased ICP heightens the risk of CSF leakage. Among the nine children in this study, two experienced CSF leakage postoperatively. One underwent lumbar cistern drainage, and the other required repair surgery to address the leakage. There are reports suggesting that ventricular enlargement may occur post-expansion surgery in patients with initially normal ventricle sizes, potentially exacerbating hydrocephalus symptoms. In such cases, prompt hydrocephalus treatment is warranted (23). If hydrocephalus is severe and accompanied by signs of acute intracranial hypertension, immediate resolution of the hypertension is prioritized, followed by VP shunt surgery. ETV, another treatment option for hydrocephalus associated with craniosynostosis, has shown a 60% effectiveness rate, though it is influenced by the patient’s age and type of facial deformity (24). All patients in this study who subsequently required further surgical intervention for hydrocephalus underwent VP shunt, with no third ventriculostomies performed. Establishing a larger database of cases could facilitate more comprehensive analyses of treatment efficacy and long-term prognostic outcomes.

While the findings of this study provide preliminary insights, several limitations should be acknowledged. First, this was a retrospective study conducted at a single center with a relatively small sample size, which may limit the generalizability of the results. In addition, the inclusion of non-consecutive cases and heterogeneous diagnoses may introduce potential selection bias. Furthermore, standardized outcome measures were not uniformly applied, and no control or comparator group was included, which may restrict direct comparisons and limit the ability to draw definitive causal inferences. In addition, certain perioperative variables (e.g., transfusion requirements, operative time, blood loss, length of stay, and reoperation timing) were not consistently available due to the retrospective nature of the study. These factors also make it difficult to determine the optimal sequencing of interventions. Therefore, the results should be interpreted in an exploratory context, and further prospective, multicenter studies with standardized methodologies are needed to confirm and extend these findings.

Conclusions

Patients with craniosynostosis may also present with hydrocephalus, particularly in cases of syndromic craniosynostosis. Notably, head circumference is not always increased and often remains within the normal range.

In our institutional experience, initial skull molding surgery is typically performed to address cranial deformities and expand the cranial cavity. While this approach has been associated with stabilization or improvement in hydrocephalus in some patients, the risk of CSF leakage is a concern. For patients with persistent severe hydrocephalus post-operatively, VP shunt placement may be necessary.

However, given the limitations of our study design, including the small sample size, retrospective nature, and lack of a comparator group, further prospective studies with larger, more homogeneous cohorts are needed to confirm the optimal treatment sequence.

Acknowledgments

None.

Footnote

Reporting Checklist: The authors have completed the PROCESS reporting checklist. Available at https://tp.amegroups.com/article/view/10.21037/tp-2026-0231/rc

Peer Review File: Available at https://tp.amegroups.com/article/view/10.21037/tp-2026-0231/prf

Funding: This work was supported by Science and Technology Commission of Shanghai Municipality, Science and Technology Innovation Action Plan (No. 20Y21900500).

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tp.amegroups.com/article/view/10.21037/tp-2026-0231/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the Declaration of Helsinki and its subsequent amendments. This study was approved by the Ethics Committee of Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine (Approval No. XHEC-D-2021-119). Written informed consent was obtained from the guardians for the publication of this case series and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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