De novo cerebral cavernous malformations with PIK3CA somatic mutation and EPHB4 germline mutation in a child with multiple developmental venous anomalies and cutaneous vascular malformations.

Cavernous malformations (CM) that arise in the central nervous system have long been considered congenital, while there are many reports of de novo non-familial-type CM adjacent to developmental venous anomalies (DVA) or after radiation. The mechanisms that cause de novo formations of sporadic cavernous malformation (CM) still remain unknown and purely speculative. We report a case of de novo cerebral CM in a child with multiple developmental venous anomalies and cutaneous vascular malformations. Histological examination and whole-exome sequencing (WES) was performed on a fresh-frozen tissue sample of the CM. WES revealed 2 missense non-synonymous variants in two genes, EPHB4 and PIK3CA. The mutant allele of EPHB4 (NM_004444.4: c.1840 T > C, p.Y614H) appeared in 248/469 WES reads (allele frequency, 52.88%), which suggested the mutation a germline one. PIK3CA (NM_006218.2) somatic mutations were found in exon 9: c.1624G > A (p.Glu542Lys) with variant frequency of 2.2% (2/89 WES reads). We did not find any non-synonymous mutations of the three CCM genes (KRIT1, CCM2, and PDCD10) in this patient. Our findings suggested that the combination of gain of function in PIK3CA and loss of function in EPHB4 may play an important role in the pathogenesis of CM, which can develop in acquired form like tumorigenesis.

Pediatric Cerebral Meningioma: A Single-Center Study with 10 Children Not Associated with Neurofibromatosis Type 2 and Literature Review.

INTRODUCTION: Pediatric meningiomas (PMs) are rare tumors; they differ from their adult counterparts by their atypicality of location, higher rates of malignant change, male preponderance, recurrence, and sometimes, their association with neurofibromatosis. This case series analyzes the clinical behavior, pathological presentation, location, and its association with neurofibromatosis type 2 (NF2). METHODS: This case series consists of pediatric patients between the ages of 4 and 16 years who were hospitalized in the neurosurgical department of our hospital from 2012 to 2021 with different neurological symptoms and a literature review using the PubMed/MEDLINE database. RESULTS: Sixty percent of the patients were males, while 40% were females. The most common neurological manifestations were signs of increased intracranial pressure. NF2 was absent in all patients. The predominant histopathology subtypes are atypical and WHO grade II, representing 30% and 40%, respectively. CONCLUSION: This study supports the relationship between NF2 and pediatric cerebral meningioma but at a lower concomitant rate from 0 to 13%, taking into consideration our original data and the literature review, contrasting some reported cases, which suggest rates as high as 33%, 50%, and 100% in a very small number of patients. Gross total resection without postoperative radiation therapy for nonmalignant and non-NF2-associated PM proved to be a sufficient and a good treatment option.

Needs of Young African Neurosurgeons and Residents: A Cross-Sectional Study.

Introduction: Africa has many untreated neurosurgical cases due to limited access to safe, affordable, and timely care. In this study, we surveyed young African neurosurgeons and trainees to identify challenges to training and practice. Methods: African trainees and residents were surveyed online by the Young Neurosurgeons Forum from April 25th to November 30th, 2018. The survey link was distributed via social media platforms and through professional society mailing lists. Univariate and bivariate data analyses were run and a P-value < 0.05 was considered to be statistically significant. Results: 112 respondents from 20 countries participated in this study. 98 (87.5%) were male, 63 (56.3%) were from sub-Saharan Africa, and 52 (46.4%) were residents. 39 (34.8%) had regular journal club sessions at their hospital, 100 (89.3%) did not have access to cadaver dissection labs, and 62 (55.4%) had never attended a WFNS-endorsed conference. 67.0% of respondents reported limited research opportunities and 58.9% reported limited education opportunities. Lack of mentorship (P = 0.023, Phi = 0.26), lack of access to journals (P = 0.002, Phi = 0.332), and limited access to conferences (P = 0.019, Phi = 0.369) were associated with the country income category. Conclusion: This survey identified barriers to education, research, and practice among African trainees and young neurosurgeons. The findings of this study should inform future initiatives aimed at reducing the barriers faced by this group.