ERF-related craniosynostosis and surgical management in the paediatric cohort.

INTRODUCTION: ERF mutation is one of the most recently identified genetic aberrations associated with syndromic craniosynostosis. Data on the pattern of craniosynostosis, surgical management of ERF-related craniosynostosis and outcomes is limited. We report on our single-centre experience in paediatric cohort of patients with syndromic craniosynostosis secondary to ERF mutation. METHODS: A retrospective review of all paediatric craniofacial cases was performed over an 8-year period (2014-2022). All patients with genetically confirm ERF-related craniosynostosis were identified, and clinical parameters including, age, sex, pattern of craniosynostosis, associated tonsillar herniation and follow-up period were further analysed from electronic clinical and imaging systems. All patients were selected and discussed in multidisciplinary craniofacial meeting (composed of neurosurgical, maxillofacial, plastics and genetics teams) prior to any surgical intervention. RESULTS: Overall, 10 patients with ERF-related craniosynostosis were identified with a male-to-female ratio of 4:1 with mean age at the time of surgery of 21.6 months with a mean follow-up period of 5.2 years. ERF-confirmed cases led to variable craniosynostosis pattern with multi-sutural synostosis with concurrent sagittal and bilateral lambdoid involvement as the most common pattern (7/10). No patient pre-operatively had evidence of papilloedema on ophthalmological assessment. Eight out of 10 patients had associated low-lying tonsils/hind brain hernia pre-operatively. Eight out of 10 patients required surgery which included 2 fronto-orbital advancement, 3 calvarial remodelling, 2 posterior calvarial remodelling/release and 1 insertion of ventriculoperitoneal shunt. CONCLUSION: Involvement of sagittal and lambdoid sutures is the most common pattern of craniosynostosis. ERF-related craniosynostosis can have variable pattern of suture fusion, and management of each patient requires unique surgical planning and execution based on clinical needs for the optimal outcomes.

Posterior Calvarial Distraction in older paediatric population: single centre paediatric neurosurgery craniofacial unit outcomes.

PURPOSE: Posterior calvarial distraction (PCD) is a safe and effective technique used to increase cranial vault volume and therefore reduce intracranial pressure in children with complex craniosynostosis. Optimal timing and method used for PCD is controversial. This procedure is usually performed in children younger than 2 years. Literature regarding calvarial distraction in older children is sparse and limited. We report our single-centre experience with PCD in children aged 6 and above to outline the applications, benefits and challenges of employing this technique in an older paediatric population. METHODS: A retrospective analysis of a database on craniofacial cases from 2006 to 2021 was performed. Patients undergoing PCD were identified and children aged 6 and above at the time of operation were included. Data on demographics and clinical outcomes were obtained from electronic records and relevant imaging was reviewed. All cases were reviewed prior to a decision for surgery by the multidisciplinary craniofacial team (composed of neurosurgery, maxillofacial and plastics teams) and underwent surgery in our paediatric craniofacial centre. RESULTS: Overall, 98 PCD cases were identified during the study period, of which 20 cases were identified as having undergone PCD at age 6 or above with mean age of 8.8 years (range 6-18). The most common indication was pansynostosis associated with raised intracranial pressure. Four cases had calvarial remodelling previously and represented with symptoms of raised intracranial pressure sometime after their initial surgery requiring PCD as rescue procedure. Average duration of inpatient stay was 5.85 days. The average duration of follow-up was 3.5 years (0.3 to 11 years). Mean distraction distance achieved was 22.5 mm (18-29 mm). Five patients experienced complications related to wound infection or distractor. Follow-up assessment in all patients demonstrated evidence of vault expansion and symptomatic improvement and resolution of intracranial pressure signs. Comparison with younger cohort did not reveal any difference in any parameters except lower rate of transfusion in the older cohort compared to young cohort (5% vs 38%). CONCLUSION: Posterior calvarial distraction in older children is safe and effective for vault expansion and treatment of raised intracranial pressure in selected cases. A multidisciplinary craniofacial team approach is crucial for appropriate case selection and management in order to optimise outcomes.

A Simple Method for Eye Protection During Prone Positioning for Craniofacial Surgery.

Surgery in the prone position risks vision loss due to a number of factors. Craniofacial surgery poses an even greater risk due to the anatomical and physiological makeup of these patients. Here, we describe a novel method of providing protection from direct pressure on the globe during prone positioning for craniofacial procedures and our protocol for improving safety and reducing the risk of postoperative vision loss.

Ophthalmological Care of Patients With Craniofacial Disorders.

Patients presenting with craniofacial conditions present a unique challenge from an ophthalmological view point. There are no set guidelines as to their management or their long-term monitoring and follow-up. Largely, this should be the remit of a dedicated craniofacial team. Here we present pertinent ophthalmological pathology occurring in combination with craniosynostosis alongside the protocol employed in Birmingham Children's Hospital for the management of these patients.

Evaluation and Management of Patients with Hydrocephalus in Craniosynostosis.

BACKGROUND: Hydrocephalus in presence of craniosynostosis, though relatively rare, occurs in 4%-10% cases, with an increased incidence in syndromic craniosynostosis. The optimum management in these patients is unknown. MATERIALS AND METHODS: A search was performed on the departmental craniofacial database to identify all patients with craniosynostosis and hydrocephalus from January 2000 to December 2020. Diagnosis was confirmed by a meticulous review of the notes and previous imaging. These patients were grouped into two groups based on the primary treatment they received: either a cerebrospinal fluid (CSF) diversion procedure or a calvarial remodeling procedure. By analyzing the outcomes for each group, we endeavor to rationalize and outline our management strategy for this complex cohort of patients. RESULTS: Sixty-four of 989 patients were confirmed to have hydrocephalus. Of these, 55 patients underwent calvarial expansion while nine had CSF diversion as a primary procedure. Our study demonstrates that the complication rate is lower in the primary calvarial expansion group. Furthermore, the need for a CSF diversion procedure was avoided in a significant number of these patients as a direct result. CONCLUSION: In the vast majority of patients with craniosynostosis and hydrocephalus, calvarial expansion surgery should be the preferred primary management option.

The Effect of Ring Finger Distal Interphalangeal Joint Stiffness on Grip Strength: A Simulated Study in Normal Participants.

Background: Pain of the hand distal interphalangeal joints may result from trauma, osteoarthritis or inflammatory arthritis. When symptoms are not controlled by non-operative means, surgical arthrodesis may be performed, resulting in complete stiffness of the joint and possible weakening of grip strength. This study aims to quantify the effect of a stiff ring finger distal interphalangeal joint on overall grip strength. Methods: One hundred participants were screened to exclude upper limb pathology. A Jamar dynamometer was used to assess overall hand grip strength. A splint was used to prevent distal interphalangeal joint flexion, thus replicating a fused distal interphalangeal joint. Participants were tested with and without the splint and the results compared. The mean of three grip strength tests was taken. Results: The participants included 55 females. Mean age was 31 (18-60 years). 76 participants had a reduction in grip strength with splinting, with a significant difference seen (p < 0.05) on Wilcoxon signed rank test. The median reduction in grip strength with splinting was 1.67 kg. However only 10 participants (10%) had a grip strength loss of greater than 6.5 kg, which is the minimal clinically important difference. Conclusions: This study found a significant loss in overall hand grip strength when the ring finger distal interphalangeal joint was stiffened. However, despite this significant change, only 10 (10%) participants experienced a reduction of greater than 6.5 kg. This is the level of weakness felt to be required to reduce function. Thus our results suggest that 90% of patients with a stiff ring finger distal interphalangeal joint are unlikely to have a clinically identifiable functional reduction in grip strength as a result.