Endovascular treatment of acute ischemic stroke in childhood: A comprehensive literature review based on the experience of a single center.

Acute ischemic stroke (AIS) in childhood is a relatively rare but significant condition that can result in long-term disabilities. There is a lack of standardized strategies for diagnosing and treating pediatric AIS due to limited evidence-based data on thrombolytic and endovascular treatments in children. This comprehensive literature review focuses on the experience of a single center in Italy and aims to highlight the main peculiarities of endovascular treatment (EVT) for AIS in childhood. The review covers the diagnostic workup, the endovascular procedures, and the need for a specific thrombectomy program for pediatric AIS. The review discusses the indications and considerations for thrombectomy in children, including the risk of complications and the challenges of extrapolating results from adult studies. The diagnostic protocols for pediatric AIS are also discussed, emphasizing the use of MRI to avoid X-ray and contrast medium exposure in children. The combination of intravenous thrombolysis and mechanical thrombectomy has been examined, considering the differences between pediatric and adult thrombi. Technical considerations related to the size of pediatric patients are addressed, including the use of large bore catheters and potential concerns with access points. The organization of a thrombectomy program for pediatric AIS is discussed, emphasizing the need for specialized facilities and expertise. Although evidence for EVT in the pediatric population is based on case series, the importance of specialized centers and the lack of validated guidelines are evident.

Cobblestone-like brain malformation with a new bi-allelic ADGRG1 (GPR-56) mutation: Fetal imaging-pathology correlation.

BACKGROUND AND PURPOSE: Autosomal recessive cobblestone-like cortical malformation of the brain, with no eye or muscle involvement, has been reported in patients with biallelic mutations in ADGRG1 (formerly GPR56) and in other brain surface defects (eg, variants in COL3A1). We reported the intra-uterine brain MRI (iu-MRI), post-mortem MRI (pm-MRI), and neuropathology findings of a new ADGRG1 mutation in a fetus at early gestation. Imaging findings were compared with those of the sibling harboring the same mutation, to provide insights about the evolving morphology of such malformation. METHODS: A 21-week fetus underwent iu-MRI for a suspected cortical anomaly on ultrasound. After the MRI results, the termination of the pregnancy was carried out. A pm-MRI scan and autopsy were performed. A neuropathology-imaging correlation was achieved. The 5-year old sibling affected by developmental impairment also underwent a brain MRI. Both subjects underwent a genetic investigation. RESULTS: Two patterns of abnormality of the cerebral surface were identified on both fetal MRI: one at the vertex resembling a cobblestone-cortex due to neuronal overmigration into the subarchnoid space and the other in the occipital areas resembling polymicrogyria. These details closely matched the neuropathology findings. MRI findings of the sibling consisted of typical ADGRG1/GPR56-related brain findings showing a polymicrogyric-like cortex, also reported as bilateral frontal-parietal polymicrogyria. A flattened pons and small cerebellar vermis were present in both cases. Genetic testing demonstrated a novel homozygous variant c.1484T>C in the c gene in both cases. CONCLUSION: Our findings provide further evidence of the overlap of ADGRG1/GPR56-related brain dysgenesis with cobblestone-like cortical malformation of the brain.

Loss of heterozygosity studies in extracranial metastatic meningiomas.

Although most meningiomas are slow-growing tumours associated with favourable prognosis, they often present local recurrence after surgical treatment; by contrast, extracranial metastatic meningiomas are rare, occurring in less than 1% of the cases. Risk factors for distal spread remain largely unknown. We report three cases with lung or bone metastases from intracranial recurrent meningiomas. Loss of heterozygosity (LOH) analysis on 1p, 9p, 10q, 14q, and 22q was conducted in available primary, recurrent and metastatic lesions, showing the same LOH pattern in the distal metastases and in the intracranial meningioma. LOH at 1p, 14q and 9p, known to be associated with increased aggressiveness, were found. The results highlight the potential clinical relevance of integrating histopathological studies with molecular genetic analysis in the follow-up of patients with different types of meningiomas.

A novel intraarterial chemotherapy using paclitaxel in albumin nanoparticles to treat advanced squamous cell carcinoma of the tongue: preliminary findings.

OBJECTIVE: The purpose of our study was to evaluate the effectiveness of intraarterial infusion of paclitaxel incorporated into human albumin nanoparticles for use as induction chemotherapy before definitive treatment of advanced squamous cell carcinoma of the tongue. SUBJECTS AND METHODS: Twenty-three previously untreated patients (age range, 27-75 years) who had carcinoma of the tongue (stage T3-T4, any N) received intraarterial therapy with paclitaxel incorporated into albumin nanoparticles delivered by transfemoral catheterization into the external carotid artery (10 patients), selectively into the lingual artery (12 patients), or into a faciolingual trunk (1 patient). Each patient received two to four infusions, with a 3-week interval between infusions. The dose administered was 230 mg/m(2) in eight patients, 180 mg/m(2) in six patients, and 150 mg/m(2) in nine patients. Sixteen patients underwent surgery. Of these 16 patients, eight subsequently received radiotherapy, and three received a combination of chemotherapy and radiotherapy. Of the remaining seven patients, one received chemotherapy alone, four received radiotherapy alone, one received chemotherapy plus radiotherapy, and one refused any further treatment. RESULTS: Sixty-seven infusions were performed successfully. Eighteen patients (78%) had a clinical and radiologic objective response (complete, 26%; partial, 52%). Three patients (13%) showed stable disease, and two (9%) showed disease progression. The four patients with complete clinical response who underwent surgery showed microscopic residual carcinoma measuring less than 1 mm in two patients, less than 5 mm in one patient, and less than 1 cm in one patient. The toxicities encountered were hematologic (grade 3) in two patients (8.6%) and neurologic (grade 4) in two patients (reversible paralysis of the facial nerve, 8.6%). Two catheter-related complications occurred: one reversible brachiofacial paralysis and one asymptomatic occlusion of the external carotid artery. CONCLUSION: Intraarterial infusion of paclitaxel in albumin nanoparticles proved reproducible and effective and deserves further investigation as induction chemotherapy before definitive treatment of advanced tumors of the tongue, with a view to organ preservation.