Novel mutation of the NOTCH3 gene in a Polish family with CADASIL.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small blood vessels disease caused by mutations in the gene encoding the neurogenic locus notch homolog protein 3 (NOTCH 3). We present a Polish family with a previously unreported novel mutation in exon 12 c.1851C>C/G of the NOTCH3 gene and varying disease expression. One of the two family members with the confirmed mutation presented with all the main CADASIL symptoms; while, his affected father was nearly asymptomatic. Both family members had epilepsy, coronary artery disease, and abdominal aorta aneurysm. Our observation confirms there is phenotypic variability in CADASIL not only between, but also within, families carrying the same mutation.

MRI brain findings in ephedrone encephalopathy associated with manganese abuse: Single-center perspective.

BACKGROUND: Manganese (Mn) is a well-known toxic agent causing symptoms of parkinsonism in employees of certain branches of industry. Home production of a psychostimulant ephedrone (methcathinone), involving the use of potassium permanganate, became a new cause of intoxications in Poland. CASE REPORT: This article presents clinical symptoms, initial brain MRI findings and characteristics of changes observed in follow-up examinations in 4 patients with manganese intoxication associated with intravenous administration of ephedrone. All patients in our case series presented symptoms of parkinsonism. T1-WI MRI revealed high intensity signal in globi pallidi in all patients; hyperintense lesions in midbrain were observed in three patients, while lesions located in cerebellar hemispheres and pituitary gland in just one patient. The reduction of signal intensity in the affected brain structures was observed in follow-up studies, with no significant improvement in clinical symptoms. CONCLUSIONS: Brain MRI is helpful in the assessment of distribution as well as dynamics of changes in ephedrone encephalopathy. Regression of signal intensity changes visible in brain MRI is not associated with clinical condition improvement. Although brain MRI findings are not characteristic for ephedrone encephalopathy, they may contribute to diagnosing this condition.

Variants of cerebral arteries - anterior circulation.

Advances in imaging techniques allow for in vivo identification of abnormalities and normal variants of cerebral arteries. These arterial variations can be asymptomatic and uncomplicated although, some of them increase the risk of aneurysm formation, acute intracranial hemorrhage, play a vital role in neurosurgical planning or can be misidentified as serious pathology and medical errors. The goal of this publication is to discuss arterial anomalies of anterior cerebral circulation, their prevalence and demonstrate radiological images of some of those variants. In this article we will discuss variants of internal carotid artery, anterior cerebral artery, anterior communicating artery, middle cerebral artery, persistent stapedial artery and fenestration.