Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report.

Subependymal giant cell astrocytoma (SEGA) is a rare circumscribed astrocytic glioma that occurs in approximately 25% of all tuberous sclerosis (TSC) cases. Herein, we discuss an atypical presentation of SEGA, including the genetic alterations, impact on clinical presentation, and the determinants of each medical and surgical treatment option. A 14-year-old girl presented with intermittent headache and a right intraventricular mass originating near the foramen of Monro. The tumor's proximity to critical structures necessitated maximum safe resection, which improved her symptoms. Histological findings indicated SEGA, and genetic sequencing revealed a TSC2 mutation. However, complete clinical and radiological evaluations failed to reveal TSC. Two months later, a new subependymal nodule was incidentally found. She had a recurrent left occipital horn lesion and diffuse smooth leptomeningeal enhancement with no spine drop metastases. She was administered everolimus as the tumor was considered unresectable. Subsequent imaging revealed a reduction in both residual and new lesions.

Evidence of pial synagiosis through ventriculoperitoneal shunt entry site in a patient who manifested Moyamoya syndrome later in childhood: A case report and historical perspective.

The term Moyamoya , or "puff of smoke" in Japanese , was first used in 1969 by Suzuki and Takaku to describe the classical appearance of collateral blood vessels in response to progressive vascular stenosis of distal internal carotid artery (ICA). Such condition may result in various clinical presentations ranging from strokes to developmental delays. In order to cease the progression of such stenotic vasculopathy, several means of revascularization have been developed over the years. In this paper we present a case of a two-year-old girl with history of myelomeningocele repair and ventriculoperitoneal shunt insertion followed by manifestation of Moyamoya syndrome later in childhood as an evidence of revascularization through a burr hole. To our knowledge, this paper is the first of its kind to report such findings in one patient. Moreover, this paper provides a historical perspective on the development of different types of revascularization techniques.

Concurrent medulloblastoma and cardiac fibroma: a rare presentation of Gorlin-Goltz syndrome.

BACKGROUND: Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of medulloblastoma and cardiac fibroma in Gorlin-Goltz syndrome is extremely rare. The present article discusses a patient diagnosed with Gorlin-Goltz syndrome and concurrent medulloblastoma and cardiac fibroma. CASE PRESENTATION: A 19-month-old boy transferred to our hospital after a radiological finding of posterior fossa lesion and hydrocephalus. A pericardial mass was noted after persistent arrhythmias. Both tumors were excised for definitive management. The histopathological sections were diagnostic of desmoplastic nodular medulloblastoma, WHO grade 4 and cardiac fibroma. Molecular and genetic investigations confirmed a pathogenic variant of PTCH1 gene, suggestive of autosomal dominant Gorlin-Goltz syndrome. CONCLUSION: Co-occurrence of medulloblastoma and cardiac fibroma is extremely rare and poses a management dilemma. Genetic counseling and antenatal screening are of utmost importance to early detect and manage patients with Gorlin-Goltz syndrome.

Prevalence and characteristics of shunt malfunction without ventricular size change at King Abdulaziz Medical City in Riyadh.

OBJECTIVES: To determine the prevalence of shunt malfunction without change in ventricle size in imaging modalities, and its clinical presentation. METHODS: A cross-sectional study conducted at King Abdulaziz Medical City, Riyadh, from June 2015 to May 2019. Patient's demographics, clinical presentation and changes in ventricle size were collected. Statistical analysis was done using SPSS version 23. RESULTS: The study included 42 patients who underwent shunt revision. Imaging showed no change in size in 10 (24%) patients, mild enlargement in 8 (19%), and obvious enlargement in 24 (57%). The mean age of diagnosis was 22±16.7. 55% of the patients were males, 45% females. The cause of the malfunction was ventricular catheter occlusion in 14 (34%) patients, 10 (24%) patients had valve-related malfunction, and peritoneal catheter occlusion was present in 6 (14%) patients, and 12 (28%) patients had a combination of the previously mentioned causes. Analysis of the association between ventricular size and headache, vomiting, seizure, confusion, and loss of consciousness in patients with unchanged ventricular size and those with increased ventricular size has shown no statistical significance. CONCLUSION: Shunt malfunction without ventricular size change was observed in 24% of all shunt malfunction patients. In addition, there was no relationship between ventricular size and patient symptoms.

Correction to: Efficacy of Dabrafenib for three children with brainstem BRAFV600E positive ganglioglioma.

In the original article, the author names were published incorrectly. The names are correct in this publication.

Feasibility and value of preoperative embolization of a congenital choroid plexus tumour in the premature infant: An illustrative case report with technical details.

We present a case of a preterm boy (born at 35 weeks of pregnancy) who was delivered urgently by a caesarean section due to placental abruption. The baby was found to have a tense fontanelle leading to imaging that showed a 5.5 cm right intraventricular mass centred in the atrium, hydrocephalus and extensive surrounding vasogenic oedema. The mass was avidly enhancing with a few large associated vessels suggesting high vascularity. The condition of the baby was acutely deteriorating. He had multiple seizures followed by persistent low level of consciousness in the third day of life. His clinical decline prompted decision to proceed with surgical resection and preoperative embolization. A large single feeder (the right posterolateral choroidal artery) was embolized leading to near complete obliteration of the tumour blush. Embolization likely facilitated subsequent surgery the next day. This is based on an estimated blood loss of 250 ml in this 3 kg baby without haemodynamic instability. Gross total resection was achieved with a single surgery and the diagnosis was choroid plexus papilloma. Utilization of this combined approach in this preterm baby had led to survival in this potentially curable disease.