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Moyamoya is managed by surgical revascularization, but no standardized method has yet been universally adopted.To describe a new indirect bypass technique for pediatric moyamoya, wide arterial sparing encephalo-duro-synangiosis (WASEDS), which provides a much wider area of revascularization with minimal compromise to the middle meningeal arterial tree compared with traditional procedures. Initially used as a salvage technique after failed encephalo-duro-arterio-synangiosis, its success later motivated its use as a first-line procedure.Clinical and radiographic records of patients who underwent WASEDS for moyamoya from 2009 to 2020 were reviewed. Brain perfusion relative cerebral blood volume on the side of the WASEDS procedure was calculated. Two-tailed paired t tests were performed to identify the statistically significant differences ( P ≤ .05).WASEDS was successfully performed on 8 patients for a total of 14 cerebral hemispheres. Age ranged from 2 to 25 years. There were no mortalities. The average clinical and radiographic follow-up was 49.79 months (range 2-126 months), demonstrating improvement in neurological condition and no postoperative stroke and significant diminution or cessation of transient ischemic attacks in all patients. Relative cerebral blood volume increased 9.24% after the WASEDS procedure ( P = .012). There were no neurological complications. There were 2 pseudomeningoceles related to the extensive dural openings.WASEDS is a safe and effective indirect revascularization technique for both primary and salvage techniques. It provides an extensive area of cortical revascularization with no compromise of the middle meningeal vasculature and subjective reports of early improvement in cognition and behavior. The main disadvantage is elevated risk of pseudomeningocele secondary to the large craniotomy.

Juvenile xanthogranuloma is a type of non-Langerhans cell histiocytic process that appears primarily in children and is described as a benign lesion. Although they typically present as a cutaneous lesion, it can also present in other areas including within the central nervous system. We report a 6-month-old infant who presented with seizure-like activity who was found to have a single intracranial mass within the right temporal area on magnetic resonance imaging of the head. The mass was biopsied and pathologically identified as a juvenile xanthogranuloma. In order to avoid the morbidity associated with a gross total resection, an intralesional steroid injection was utilized for treatment which our patient tolerated well. Intralesional steroid injection for the treatment of a symptomatic isolated intracranial juvenile xanthogranuloma has not been described but was successful for our patient.

While embryonic mammalian central nervous system (CNS) axons readily grow and differentiate, only a minority of fully differentiated mature CNS neurons are able to regenerate injured axons, leading to stunted functional recovery after injury and disease. To delineate DNA methylation changes specifically associated with axon regeneration, we developed a Fluorescent-Activated Cell Sorting (FACS)-based methodology in a rat optic nerve transection model to segregate the injured retinal ganglion cells (RGCs) into regenerating and non-regenerating cell populations. Whole-genome DNA methylation profiling of these purified neurons revealed known and novel genes and pathways linked to mammalian RGC regeneration. Moreover, whole-methylome sequencing of purified uninjured adult and embryonic RGCs identified embryonic molecular profiles reactivated after injury in mature neurons, and others that correlate specifically with embryonic or adult axon growth, but not both. The results highlight the contribution to both embryonic growth and adult axon regeneration of subunits encoding the Na+/K+-ATPase. In turn, both biochemical and genetic inhibition of the Na+/K+-ATPase pump significantly reduced RGC axon regeneration. These data provide critical molecular insights into mammalian CNS axon regeneration, pinpoint the Na+/K+-ATPase as a key regulator of regeneration of injured mature CNS axons, and suggest that successful regeneration requires, in part, reactivation of embryonic signals. Identification of the specific role of DNA methylation in CNS regeneration promises novel therapeutic targets for CNS injury and disease.

INTRODUCTION: The co-occurrence of multiple disease processes can make for more challenging diagnoses. Here we report an unusual case of a patient found to have an IDH1-mutant high-grade glioma along with multiple cerebral cavernous malformations and pathogenic germline variants in PDCD10 and SMARCA4. CASE DESCRIPTION: A 17-year-old female presented with left arm paresthesia and weakness along with persistent headaches within the frontal and occipital regions that progressed in intensity to include nausea and emesis. A fast sequence magnetic resonance imaging (MRI) of her head was obtained that revealed the presence of multiple bilateral cystic lesions suspicious for cavernomas, with the most notable lesion in the right parietal lobe. Ophthalmology consultation revealed grade III papilledema bilaterally. A full brain MRI with and without contrast was obtained and demonstrated a right anterior parietal lobe lesion with associated mass effect, as well as multiple bilateral supratentorial and left cerebellar cavernous malformations. The patient underwent tumor debulking of her dominant lesion. Pathology revealed an IDH1-mutant diffuse astrocytoma, WHO grade III. Tumor genetic testing was done and identified a SMARCA4 and two TP53 variants. Germline genetic testing was then pursued which revealed a PDCD10 pathogenic variant consistent with familial cerebral cavernous malformation syndrome and a likely pathogenic variant in SMARCA4. Treatment of her high-grade-glioma included radiation therapy followed by maintenance oral temozolomide. DISCUSSION: This case illustrates the unusual co-occurrences of a high-grade glioma with familial cavernous malformation syndrome and germline pathogenic variants in PDCD10 and SMARCA4. Our patient continues to do well clinically, but because of her risk of developing small cell carcinoma of the ovary she has elected to undergo a prophylactic bilateral salpingo-oophorectomy. Recognition of abnormal genetic results is critical in the setting of multiple disease processes and can play a crucial role in the on-going care for a patient.

A gravida 4, para 3 female at 37 weeks' gestation presented for a routine ultrasound. She had an otherwise uncomplicated low-risk pregnancy. The sonographic evaluation of the fetus revealed a macrocephaly and a deviation of the brain midline structures with a mass effect as well as a massively dilated left cerebral ventricular system with ill-defined echogenic ventricular delineation. Multiple free intracavitary echogenicities and disruptions of the brain mantle were visible. Our images were suggestive of either an intracranial bleed with the presence of an underlying tumor or a spontaneous bleed. A postnatal MRI was consistent with our prenatal findings of a possible tumor. The postnatal biopsy revealed an anaplastic astroblastoma within a hemorrhagic background. The infant received multiple courses of chemotherapy and further tumor debulking. At present, the infant is 18 months old. This is only the 4th case of an astrocytoma identified in the fetal period, and our case has the longest known survival yet.