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INTRODUCTION: Choroid plexus tumors (CPT) are rare intraventricular neoplasms of epithelial origin. They usually occur in the 2nd year of life, corresponding to 0.4-0.6% of intracranial tumors in this age group. They are classified, according to WHO 2021: choroid plexus carcinoma (CPC), atypical choroid plexus papilloma (ACPP) and choroid plexus papilloma (CPP). Li-Fraumeni syndrome (LFS) is present in 50% of patients with CPC. In Brazil, the TP53p.R337H mutation affects 0.3% of the population in the South/Southeast. OBJECTIVE: Evaluate the genetic assessment and overall-survival (OS) of patients with CPT treated at IOP/GRAACC/UNIFESP. PATIENTS/METHODS: Between 1995-2021, 48 patients were diagnosed with CPT in our institution, 27 CPC, 18 CPP and 3 ACPP. From 2012-2021 patients were referred for genetic evaluation, 16 of which had CPC (2 had previously CPP). Family history for neoplasms was present in 87.5%, 37.5% compatible with Li-Fraumeni Syndrome (LFS) of which 50% with positive mutations. The molecular investigation of TP53 gene in patients with CPC was performed and positive in 62,5%:R337H(6 patients), R110C*, R158H*, H179R*, R196* (*1 patient each). For those with R337H, p53 protein immunohistochemistry resulted in 90-100% positivity. Treatment strategies consisted of surgery with gross total resection being achieve in all ACPP, 94,4% CPP and 55,5% CPC. Chemotherapy was performed in only 1 case of ACPP and all CPC with a variety of schemas, including high dose of chemotherapy and autologous bone marrow transplant for slow responders or recurrent disease. The three- and five-years OS for CPC was 72.5% and 61.7%, respectively. For CPP and ACPP 5y OS was 100%. CONCLUSION: The present study is in agreement with the literature showing an excellent survival for CPP and ACPP but an inferior outcome for patients with CPC and TP53 mutation despite being assisted by a well-prepared multidisciplinary team with an adequate treatment.

Cases Presentations: Case 1: A 1-year-old boy with suprasellar pilocytic astrocytoma with previous history of shunting disfunction, treatment according vinblastine protocol due to anaphylactic reaction with carboplatin presented with ascites and necessity of ventricular-atrial shunt. Due to high protein cerebrospinal fluid (CSF) level (551mg/dl) he was submitted to external ventricular drainage and bevacizumab 10mg/kg was associated to his oncology treatment. After three cycles of bevacizumab, the patients’ CSF protein levels decreased dramatically 178 mg/dL, allowing the shunt procedure without complications and shorter hospital stay. Case 2: A ten-year-old boy with suprasellar pilocytic astrocytoma treated with three lines of chemotherapy showed tumor progression one year after the end of carboplatin-vincristine protocol and shunting disfunction. External ventricular drainage was performed, and the CSF showed 590mg/dl protein level. He was treated with vinblastine 6mg/m2 weekly and bevacizumab 10mg/kg each 14 days. After two cycles of bevacizumab, the protein level was 191mg/dl allowing another V-P shunt procedure. Discussion: Optic pathway gliomas frequently cause elevated cerebrospinal fluid protein concentrations leading to shunts occlusions and failures, necessity of external ventricular drainage and longtime hospitalization, implicating risk of serious infections. Bevacizumab is a monoclonal antibody with immunomodulatory and anti-vascular endothelial growth factor (VEGF) activities that has been used in combination with other chemotherapeutic agents such as irinotecan and vinblastine to treat low-grade gliomas and has been reported to decrease the CSF protein concentration.Final Comments: Bevacizumab treatment in patients with gliomas and high CSF protein levels seems effective in decreasing protein leakage from the vessels to the ventricles, thereby improving the scope for successful shunt placement.

Hydrocephalus is the most frequent and devastating illness affecting a fetus. The development of both ultrasonography and magnetic resonance, associated with laboratorial tests, has greatly facilitated its diagnosis.In the Fetal Medicine Service of the Federal University of São Paulo and in the Santa Joana/Pro-Matre Paulista Hospital Complex, in São Paulo, SP, Brazil, repeated cephalocenteses, ventricular-amniotic shunting, and neuroendoscopy were used to treat 57 fetuses with hydrocephalus, all of them at a gestational age under 32 weeks. Another eight fetuses had myelomeningocele and underwent correctional open surgery to prevent hydrocephalus.Thirty-nine patients were followed up for a period longer than 3 years and had their intelligence coefficient assessed: 26 of them were considered normal (IQ above 70); six had mild or moderate handicaps (IQ from 35 to 70), and seven were severely handicapped (IQ below 35). Out of the eight patients operated for correction of myelomeningocele, only two came to require shunting. There were no cases of maternal morbidity, and no infectious condition was observed in any of the patients subjected to intrauterine treatment.Selected cases of isolated, evolutive, non-destructive hydrocephaly diagnosed before 32 gestational weeks may benefit from fetal neurosurgical procedures. With the accuracy improvement of diagnoses, the number of patients fitting into that group has become very small.

The object of this study was to assess the efficacy and complications of endoscopic management of anterior skull base defects.The authors reviewed the medical records of 28 children (20 boys and 8 girls) undergoing endoscopic repair of anterior skull base defects in their tertiary referral center between 2001 and 2008; 18 cases were congenital and 10 cases posttraumatic. During the endoscopic procedure, rigid telescopes--2.7 or 4 mm in diameter, with 0° or 30° lenses--were used. In 23 patients the anterior skull base defect was sealed with fragments of middle turbinate (bone and mucosa). In the remaining 5 patients it was sealed with cartilage harvested from the nasal septum (3 cases) or from the auricle (2 cases), fibrin glue, and oxidized cellulose. A combined external and endoscopic approach was required in 3 cases because of the size and extensions of the encephalocele. Outcome was primarily assessed by means of clinical examination, nasal fibroscopy, and imaging.The mean duration of follow-up was 26.7 months (range 9-57 months). One patient treated by a combined approach died of meningitis 2 years after surgery. In the remaining 27 patients, there was no recurrence of CSF leak, meningitis, or encephalocele. An iatrogenic frontal or ethmoidal mucocele was observed in 4 cases.The endoscopic approach is a minimally invasive, safe, and efficient technique for removing nasal encephaloceles in children.