The Evolving Landscape of Therapeutics for Epilepsy in Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign tumor growth in multiple organs, including the brain, kidneys, heart, eyes, lungs, and skin. Pathogenesis stems from mutations in either the TSC1 or TSC2 gene, which encode the proteins hamartin and tuberin, respectively. These proteins form a complex that inhibits the mTOR pathway, a critical regulator of cell growth and proliferation. Disruption of the tuberin-hamartin complex leads to overactivation of mTOR signaling and uncontrolled cell growth, resulting in hamartoma formation. Neurological manifestations are common in TSC, with epilepsy developing in up to 90% of patients. Seizures tend to be refractory to medical treatment with anti-seizure medications. Infantile spasms and focal seizures are the predominant seizure types, often arising in early childhood. Drug-resistant epilepsy contributes significantly to morbidity and mortality. This review provides a comprehensive overview of the current state of knowledge regarding the pathogenesis, clinical manifestations, and treatment approaches for epilepsy and other neurological features of TSC. While narrative reviews on TSC exist, this review uniquely synthesizes key advancements across the areas of TSC neuropathology, conventional and emerging pharmacological therapies, and targeted treatments. The review is narrative in nature, without any date restrictions, and summarizes the most relevant literature on the neurological aspects and management of TSC. By consolidating the current understanding of TSC neurobiology and evidence-based treatment strategies, this review provides an invaluable reference that highlights progress made while also emphasizing areas requiring further research to optimize care and outcomes for TSC patients.

Minimally Invasive Parathyroidectomy in a Child With Acute Pancreatitis.

Acute pancreatitis (AP) is rarely seen in the paediatric population and is typically not associated with those aetiologies seen in adult pancreatitis. This case describes a 12-year-old female who presented with acute abdominal pain and constipation, with biochemical evidence of elevated serum amylase, calcium (Ca) and parathyroid hormone (PTH) levels. A diagnosis of AP was made, which was settled with conservative management. Further investigations, namely CT and technetium 99m (Tc-99m) sestamibi scans, revealed a solitary parathyroid adenoma. She subsequently underwent minimally invasive parathyroidectomy (MIP), following which Ca and PTH levels normalized postoperatively.

The Impact of COVID-19 on the Functioning of a Neurosurgical Service at a Tertiary Institute in a Low-Resource Setting.

Objective During the COVID-19 pandemic, certain precautionary measures were implemented to limit its effect, including the cancellation of clinics and elective surgical lists. To determine the impact, if any, of the pandemic on the running of a neurosurgical service, an audit was performed on the volume of referrals, admissions and type of surgeries performed at a tertiary institute in a low-resource setting. Methods An audit of the neurosurgical department's database was performed on the number of referrals, admissions, surgical procedures, and types of procedures done at the San Fernando General Hospital. This was divided into two 15-month periods, pre-pandemic (January 1, 2019 to March 31, 2020) and intra-pandemic (April 1, 2020 - June 30, 2021). Results During the pre-pandemic period (January 1, 2019 - March 31, 2020), 2,597 patients were referred to the service and 309 major procedures were performed. Two thousand and forty-two patients were referred during the intra-pandemic (April 4, 2020 - June 30, 2021) period, with 354 surgeries performed. More external ventricular drains (29 vs 50), craniotomies for trauma (73 vs 98), anterior cervical fusion (42 vs 47), lumbar fusions (9 vs 12), ventriculo-peritoneal shunts (16 vs 19) and aneurysm clipping (10 vs 13) were done during the intra-pandemic period. Conclusion Although elective surgical procedures and clinics were reduced, the number of patients seen and total procedures performed did not vary significantly. The neurosurgical pathology encountered remained constant during the pandemic. This shows the importance of maintaining a fully functional neurosurgical service, as we continue to adapt to the COVID-19 pandemic.

Clipping of Posterior Circulation Intracranial Aneurysms: Maintenance of a Necessary Skill in Low-Resource Settings.

The treatment paradigm for intracranial aneurysms has evolved with technological advancements, resulting in improved patient outcomes. In particular, the management of posterior circulation aneurysms has shifted to favor endovascular therapy (EVT). However, this modality is not always accessible in low-resource settings. In our country (Trinidad and Tobago), neuroendovascular services are not readily available. We report a case of a patient with a ruptured left posterior inferior cerebellar artery (PICA) aneurysm (Fisher grade 4) who underwent a far-lateral craniotomy and clip ligation. It was done by a fellowship-trained vascular neurosurgeon in a public hospital and resulted in an excellent patient outcome. This highlights the need to maintain this surgical skill set in resource-poor countries, in spite of the increasing popularity of endovascular therapy.

Obstructive Hydrocephalus Secondary to Cryptococcal Meningitis in an Immunocompetent Adult.

Cryptococcal infections of the central nervous system (CNS) are common opportunistic infections in immunocompromised hosts. They can occur in immunocompetent hosts, and this has been documented in isolated case reports. Rapid neurological deterioration can be seen, particularly with hydrocephalus, and diagnosis can be difficult without a high index of suspicion. Treatment arms include prolonged antifungal therapy and cerebrospinal fluid (CSF) diversion procedures. We present a case of a middle-aged immunocompetent male, who presented with an acute confusional state and papilledema. An urgent computed tomography (CT) and magnetic resonance imaging (MRI) revealed obstructive hydrocephalus, and an external ventricular drain was placed. CSF samples were collected, and analysis revealed cryptococcal infection. He was treated with antifungal therapy but failed external ventricular drain challenging. A ventriculoperitoneal shunt was placed after negative CSF studies were obtained. While uncommon, cryptococcal meningitis in immunocompetent hosts can present with obstructive hydrocephalus. It can result in rapid neurological decline and death. Emergent CSF diversion and antifungal therapy are the primary treatment modalities. CSF diversion may be permanently required in some cases.

A bi-foraminal craniometric-guided approach to endoscopic third ventriculostomy and biopsy of a pineal tumour.

BACKGROUND: Pineal tumors are very rarely encountered, with an incidence of <1% of intracranial lesions in adults. Life-threatening hydrocephalus due to obstruction of the third ventricle can result from the location of these tumours. Endoscopic third ventriculostomy (ETV) and tumor biopsy is a safe and feasible strategy, particularly if the tumor appears benign. This mitigates the high risks of uncontrollable venous bleeding from open and stereotactic biopsies. While typically performed using either ipsilateral single or dual bur holes, the location of the tumor may require modifications to the standard endoscopic techniques. CASE DESCRIPTION: A 55-year-old male presented with signs of intracranial hypertension and was found to have obstructive hydrocephalus due to a pineal tumour. The tumour displayed a right-sided dominance when the pre-operative imaging was assessed, which would risk forniceal injury if biopsied via a right-sided burr hole. Craniometric measurements revealed a superior trajectory to the tumour via the left foramen of Monro. A biforaminal approach was performed, with a traditional ETV using a right coronal bur hole and biopsy via a left frontal bur hole. This minimized forniceal stretching and allowed a safe biopsy. CONCLUSION: The bi-foraminal approach has not been widely described in the literature but can potentially avoid morbidity with biopsy in patients with right-sided pineal tumours. We believe this technique should be considered, particularly in low-resource settings where neuroendoscopy is not commonly done, and where the use of ipsilateral single or dual-bur holes may lead to forniceal injury.

Gastric lipoma presenting with massive upper gastrointestinal bleeding.

A case of massive upper gastrointestinal bleeding in a 37-year-old female is presented showing a submucosal mass in the gastric body. At laparotomy a pedunculated submucosal mass was found located on the posterior wall at the junction of the body and antrum of the stomach, 8 cm from the pylorus. Pathology confirmed that it was a 4 cm benign gastric lipoma with a bleeding central ulcer. Gastric lipomas are rare, benign, typically submucosal tumors occurring in the gastric antrum. They are usually asymptomatic but can become symptomatic depending on size, location, and if there is ulceration of the lesion. These lesions may be mistaken as malignant tumors or present with upper GI bleeding or intussusception. The diagnosis can be made using a combination of upper endoscopy, endoscopic ultrasound, CT, and MRI with surgical excision being the definitive treatment of choice. We hope that this case highlights the fact that these lesions can present with massive upper GI haemorrhage and should be included in the diagnosis when appropriate.