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 Case of Giant Proliferative Periocular Pyogenic Granuloma.

Pyogenic granuloma (PG) is a common vascular anomaly affecting the skin with occasional involvement of mucosa. Ophthalmic surgeons typically encounter these lesions as solitary, bright red, rapidly growing papules following surgery or trauma to the conjunctiva, e.g. chalazion, strabismus, or enucleation surgery. We present a rare and novel case of a disfiguring proliferative & eruptive giant pyogenic granuloma involving both mucosal and non-mucosal tissue of the ocular adnexa in the absence of any previous surgery, trauma, or medical history in a previously fit and well 43-year-old male. We demonstrate the histological features of the lesion following successful management with surgical excision & primary closure. The authors advocate surgery as the gold standard for managing such proliferative lesions ensuring low recurrence rates and histological confirmation for a lesion whose differential diagnoses include malignant eyelid lesions such as keratoacanthoma and squamous cell carcinoma.

Intraoperative portable ultrasonography localization of clinically impalpable soft-tissue tumors.

BACKGROUND: Most soft-tissue tumors are clinically palpable; however, some can be impalpable to clinical examination making it difficult to plan surgical management. METHODS: We present a simple method of perioperative tumor localization using a portable ultrasonography machine. RESULTS: We used the technique for seven cases, on each occasion identifying the tumor and facilitating the optimal surgical approach. CONCLUSION: The technique is reproducible and readily available, and we recommend its use.

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.

Solitary plasmocytoma of frontal bone presenting as an asymptomatic forehead lump.

Solitary plasmocytoma of bone is a rare type of plasma cell tumor. We present a case of a solitary extramedullary plasmacytoma of the frontal bone presenting as an asymptomatic forehead lump with clinically benign characteristics. This case highlights the need for a high index of suspicion when dealing with enlarging subcutaneous lumps of the forehead and scalp. The significance of this lies in the appropriate sequencing of investigations and the implementation of the necessary treatment regimen.

Transforming growth factor beta (TGFbeta) and keloid disease.

Keloids are benign fibroproliferative diseases of unknown aetiology. They occur as a result of derangement of the normal wound healing process in susceptible individuals. Although several factors have been postulated in the aetiopathogenesis of this condition, there has been growing evidence to suggest a role for Transforming Growth Factor beta (TGFbeta) family members in its pathogenesis. TGFbeta has also been found to be associated with fibrotic diseases affecting different organs of the body including liver, kidney, lung as well as skin. In this review article, we will discuss the morphology and mechanism of action of TGFbeta and its isoforms and present the most up to date literature discussing the role of TGFbeta isoforms, their receptors, and intracellular signalling pathways (the SMAD pathway) in the pathogenesis of keloid disease. Understanding the role of TGFbeta in keloid disease could lead to the development of clinically useful therapeutic modalities for treatment of this condition.

Ventricular standstill: a complication of intrapleural anesthesia using bupivacaine in a patient with free transverse rectus abdominus myocutaneous flap breast reconstruction.

Transverse rectus abdominus myocutaneous (TRAM) flap is one of the commonly used techniques for breast reconstruction. Postoperative pain relief is of paramount importance following TRAM flap breast reconstruction to avoid potentially preventable complications like chest infection. Several methods of pain control are available, including intrapleural anesthesia. Here we report a case of a patient who developed ventricular standstill as a complication of intrapleural bupivacaine.