Biopsy of paediatric brainstem intrinsic tumours: Experience from a Singapore Children's Hospital.

BACKGROUND: Biopsy of intrinsic brainstem tumours presumed to be diffuse midline gliomas (previously known as DIPG) is controversial. Surgery has risks of injury to the eloquent brainstem and may not have direct benefit to the patient. Technological improvements in operative adjuncts have allowed the role of biopsy for paediatric brainstem lesions to be revisited with new insights. This study aims to evaluate our institutional experience in brainstem biopsy. METHODS: This is an ethics-approved retrospective study based in KK Women's and Children's Hospital. Patients diagnosed with intrinsic brainstem tumours and managed by the Neurosurgical Service were included. Variables of interest included patient demographics, neuroimaging features, type of surgery, histological and molecular diagnosis, treatment, and outcomes. RESULTS: From 2006 to 2021, a total of 27 brainstem intrinsic tumours were referred to the Neurosurgical Service. Eleven (40.7 %) patients underwent stereotactic biopsy and 10 (37 %) had open biopsies. Histologically, 10 (37 %) were confirmed to be high grade gliomas, eight (29.6 %) were low grade gliomas and 3 (11.1 %) were malignant embryonal tumours. No negative diagnostic results or permanent postoperative complications were encountered. Five patients went on to have their tumours interrogated via next-generation sequencing to look for targetable mutations. The remaining 6 (22.2 %) patients did not undergo biopsy, whereby 1 of them is still alive after 6 years. CONCLUSION: Biopsy of paediatric brainstem intrinsic tumours is a safe procedure that concurrs with accurate tissue diagnosis. This option can be offered to affected patients, especially to identify relevant markers for targeted therapy.

Revascularisation surgery for paediatric moyamoya disease: The Singapore experience.

Moyamoya disease (MMD) is characterized by the spontaneous occlusion of the distal internal carotid arteries and resultant neo-angiogenesis of fragile collateral blood vessels. Direct and indirect revascularization surgeries have shown to effectively reduce stroke risks in paediatric MMD, whereby the latter is a more utilised technique in children. This study was undertaken to determine the outcomes of revascularization in Singapore's multi-ethnic, Southeast Asian paediatric population. This is an ethics-approved study conducted in Singapore's 2 tertiary children hospital units: KK Women's and Children's Hospital and National University Hospital. Sixteen patients with a diagnosis of ischaemic-type MMD are recruited between 01 January 2002 to 31 January 2019; and a total of 24 surgeries are undertaken (24 cerebral hemispheres). There are 2 cases of stroke within 30 days post-surgery. However, no stroke recurrence is observed beyond 30 days after surgery in all patients. Four patients reported recurrent transient ischaemic attack symptoms in the follow-up period ranging from 3 months to 12 years. Data analyses show a statistically significant improvement in modified Rankin's Scale (mMRS) in post-operative patients from baseline to discharge, and at 3 months after surgery. Our study also observes that predictors of recurrent ischaemic events include higher pre-operative MRS, Suzuki stage and perioperative infarction. To the authors' knowledge, this is the first study to date reporting the outcomes of revascularisation in a paediatric Southeast Asian cohort.

Synchronous Chiari III Malformation and Polydactyly.

BACKGROUND: Chiari III malformation is an extremely rare congenital anomaly. At present, its primary and associated pathognomonic factors remain poorly understood. The authors report a case of a male neonate born with an occipital encephalocoele with herniation of posterior fossa contents associated with bilateral postaxial polydactyly. CASE DESCRIPTION: The patient is a dichorionic, diamniotic twin conceived via assisted reproductive methods; his twin sister has no congenital anomaly. Neurosurgical management included successful repair of the encephalocoele and subsequent cerebrospinal fluid diversion via a ventriculoperitoneal shunt. CONCLUSIONS: Owing to the uniqueness of this patient's presentation, the concurrent diagnoses of Chiari III malformation and polydactyly are discussed in concordance with updated literature.