Cerebral amyloid angiopathy-related inflammation (CAARI): case report.

Cerebral amyloid angiopathy-related inflammation is a new disease entity whose proper diagnosis may be difficult due to the fact that the early phase and radiological image resemble other conditions such as intracerebral haemorrhage or proliferative disorder. Also, the brain biopsy, which is an important part of the evaluation to confirm the diagnosis and rule out mimics, cannot be performed in each patient. In this paper we present the case of a 58yearold man who was correctly diagnosed with cerebral amyloid angiopathy-related inflammation (CAARI) based on the results of the histopathological examination of the brain tissue, which was possible mainly owing to the inclusion of the expansive process as the underlying cause in the initial differentiation. Further progression of the disease, despite applying treatment of increasing intensity in response to progressive deterioration of the patient's condition, revealed the multiplicity of clinical courses that a new and not easily pinpointed entity can take.

A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetically determined disease of the cerebral vessels, characterized by recurrent ischemic strokes, dementia, and degeneration of the cerebral white matter. The condition is caused by a mutation in the NOTCH3 gene, whose product plays a great role in the development and physiology of the cardiovascular system. Magnetic resonance imaging reveals multiple hyperintensive lesions of the white matter in the T2-weighted images also in asymptomatic carriers of CADASIL and can be detected even 10-15 years prior to clinical signs. Diagnosis is confirmed by genetic testing. We present 2 patients (mother and daughter) carrying the same mutation p.Cys212Gly in 1 allele of the NOTCH-3 gene, which has not yet been recorded in the Human Gene Mutation Database for that gene and therefore described as a new one. The clinical manifestation of the disease differs between patients -the 63-year-old mother has been suffering from severe migraine headaches since her early youth and the first vascular event occurred when she was about 50 years old, she is now presenting with impaired cognitive functions, left facial palsy, bilateral pyramidal syndrome more prominent on the left side, and four-wheel support assisted walking. The neurological deficits that her 42-year-old daughter is afflicted with are discreet. Observation to date indicates a definitely less severe clinical course of the disease. This indicates that members of the same family carrying the same mutation may produce different clinical course of the disease.