A Unique Case of Bilateral Thalamic High-Grade Glioma in a Pediatric Patient with LI-Fraumeni Syndrome: Case Presentation and Review of the Literature

Li-Fraumeni syndrome (LFS) is a rare high-penetrance and autosomal-dominant pathological condition caused by the germline mutation of the TP53 gene, predisposing to the development of tumors from pediatric age. We conducted a qualitative systematic review following the ENTREQ (Enhancing Transparency in Reporting the Synthesis of Qualitative Research) framework. A search was made in MEDLINE/Pubmed and MeSH Database using the terms “Li-Fraumeni” AND “pediatric high-grade glioma (HGG)”, identifying six cases of HGGs in pediatric patients with LFS. We added a further case with peculiar features such as no familiar history of LFS, association of embryonal rhabdomyosarcoma and bithalamic HGG, whose immunohistochemical profile was accurately defined by Next Generation Sequencing. Knowledge synthesis and case analysis grounded the discussion about challenges in the management of this pathology in pediatric age

Role of Magnetic Resonance Imaging in the Diagnosis of Fetal Brain Anomalies

Prenatal Ultrasonagraphy (US) is the mainstay modality to diagnose fetal abnormalities especially in early pregnancy. Fetal Magnetic Resonance Imaging (MRI) is a useful tool to confirm and to characterize a pathology that is suspected on US, especially in the detection of central nervous system pathologies.The use of ultrafast imaging tecniques gives additional importantant informations and optimal imaging quality, despite fetal motion, in clinical practice. Diffusion Weighted Imaging (DWI), Diffusion Tensor Imaging (DTI), MR Spetroscopy and Functional studies have potential applications in the fetal brain imaging. Fetal MRI could recognize, in contradistinction to US, the development of fetal brain, the multilayered appearance of the cerebral parenchyma, the timing of sulci development and the myelination. The most common indications for fetal MRI are ventriculomegaly, midline anomalies, malformations of cerebral cortical development, posterior fossa anomalies, suspected haemorraghic-ischemic lesions, tumors. Fetal MRI is a safe and powerful complement to US for clinical management and prognostication

Flow diverter stent treatment for ruptured basilar trunk perforator aneurysms

Basilar trunk perforator (BTP) aneurysms are rare. Treatment options traditionally considered for these uncommon lesions have included direct surgery, endovascular therapy, or conservative management. Flow diverters represent a newer therapeutic option for BTP aneurysms but pitfalls and complications are unknown. We describe three patients with BTP aneurysms treated with flow diverter stents

Mid-term and long-term follow-up of intracranial aneurysms treated by the p64 Flow Modulation Device: a multicenter experience

Experience with the endovascular treatment of cerebral aneurysms using the p64 Flow Modulation Device is still limited. This study discusses the results and complications of this new flow diverter device

A Rare Case of Posterior Fossa Tumor and Central Precocious Puberty: Case Presentation and Review of the Literature

Central precocious puberty (CPP) is a condition that causes early gonadotropin-dependent sexual development; CPP is idiopathic in girls in most cases, whereas more than 50% of boys have an identifiable etiology. We conducted a qualitative systematic review following the ENTREQ (enhancing transparency in reporting the synthesis of qualitative research) framework. A search was made in MEDLINE/Pubmed and MeSH Database using the terms “precocious puberty” AND “brain tumor” OR “posterior fossa tumor” OR “cerebellar tumor” OR “infratentorial tumor”, identifying five cases of pediatric patients with infratentorial tumors and CPP and a case of cerebellar ganglioglioma without hypothalamic−pituitary−gonadal axis involvement and/or intracranial hypertension. Our work highlights the importance of a multidisciplinary approach and extensive central nervous system imaging for patients presenting with CPP in order to detect possible tumor association. Moreover, we believe that this manuscript could contribute to stimulate other research because the exact mechanism of CPP in infratentorial brain lesions has not been understood yet

Primary central nervous system anaplastic large cell lymphoma in children: Case presentation and systematic review of literature

Primary central nervous system lymphoma (PCNSL) is an extranodal non-Hodgkin lymphoma (NHL) originating in brain tissue, spinal cord, leptomeninges, and vitreoretinal eye, accounting for 3%–5% of all brain tumors and less than 1% of all NHLs