The "isomorphic subtype of diffuse astrocytoma" was identified histologically in 2004 as a supratentorial, highly differentiated glioma with low cellularity, low proliferation and focal diffuse brain infiltration. Patients typically had seizures since childhood and all were operated on as adults. To define the position of these lesions among brain tumours, we histologically, molecularly and clinically analysed 26 histologically prototypical isomorphic diffuse gliomas. Immunohistochemically, they were GFAP-positive, MAP2-and CD34-negative and nuclear ATRX expression was retained. All 24 cases sequenced were IDH-wildtype. In cluster analyses of DNA-methylation data, isomorphic diffuse gliomas formed a group clearly distinct from other glial/glio-neuronal brain tumours and normal hemispheric tissue. It was most closely related to paediatric MYB/MYBL1 altered diffuse astrocytomas and angiocentric gliomas. 13/25 (52%) of isomorphic diffuse gliomas had copy number alterations of MYBL1 or MYB. Gene fusions of MYBL1 or MYB with various gene partners were detected in 11/22 (50%). Gene fusions were associated with increased RNA-expression of the respective MYBfamily gene in 83%. Integrating copy number alterations and RNA sequencing data, 20/26 (77%) had either MYBL1 (54%) or MYB (23%) alterations. Clinically, 89% of patients were seizure free after surgery and all had a good outcome. In summary, we here define a distinct tumour class with a concise morphology, a typical DNA-methylation profile and frequent MYBL1 and MYB alterations. It occurs both in children and adults and has a benign disease course. For classification, we propose the term "isomorphic diffuse glioma, MYBL1/MYB altered, WHO grade I". DNA-methylation profiling is well suited to identify these tumours.
Sinus pericranii is a rare vascular abnormality characterised by abnormal connections between the intra- and extracranial venous systems and is usually found in children. In most instances, a sinus pericranii presents as a soft scalp swelling that appears with the patient in the recumbent position and disappears in the erect position. We review two cases of sinus pericranii presented in adulthood and treated surgically with good outcomes. We have performed a search of the English literature using the PubMed database and reviewed the published cases to date to present an overview of this pathological entity.
Brown-Sèquard syndrome is rarely caused by a cervical disc herniation. This etiology may be underdiagnosed but has a more favorable outcome in those cases where rapid diagnosis is followed by spinal cord decompression.
Background: Pathological crying has been rarely reported after deep brain stimulation. The exact neural substrate is unknown, but it is often assumed that pathological crying and the pseudobulbar syndrome result from disturbances of a common neural pathway.
Carotid-cavernous fistulas (CCF) are uncommon conditions, but cause significant morbidity if untreated. The majority of CCFs in young men are attributed to direct skull trauma. We present a case of CCF following a blunt injury to the neck.
Objective: Relatively little is known about the effects of deep brain stimulation on non-motor symptoms. The aim of this pilot study was to assess the impact of deep brain stimulation on sleep and olfactory function in Parkinson’s disease.Methods: Subjective sleep quality and olfactory testing were performed on 11 consecutive Parkinson’s disease patients (eight men and three women) undergoing bilateral subthalamic nucleus stimulation. All patients consented to undergo clinical assessments prior to the procedure, and at regular intervals afterwards.Results: Subjective sleep quality improved at six months following deep brain stimulation and this benefit was sustained in the majority of patients at later follow-up assessments. There was no significant change in olfactory function following deep brain stimulation.Conclusions: In addition to having beneficial effects on motor function and quality of life, bilateral subthalamic nucleus stimulation improves subjective sleep quality in Parkinson’s disease.
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