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- W2185273182 abstract "Blue rubber bleb nevus syndrome is a very rare syndrome characterized by numerous vascular malformations of the skin and internal organs. Skin changes consist of soft tumors of rubberlike cohesion. Extracutaneous changes are located in gastrointestinal tract and other systems, as central nervous system. Neurological symptoms are connected with the location of vascular malformations within the central nervous system. The authors present a 2-year -old girl, who had diagnosed tumor in the right thigh at the 27 th week of gestation. In the 3 rd week of life in the MRI and angio-CT the presence of bleeding haemangioma of the right thigh was confirmed. Bleeding hemangiomas are the cause of recurrent infections and anemia. The girl was operated on several times- resection of the vascular tumor of the right thigh and small haemangiomas were performed. In the 2 nd year of life the child was hospitalized in the Child Neurology Department because of psychomotor delay. In the physical examination numerous disseminated skin and mucous membranes haemangiomas and vascular tumor of the right thigh were observed. In the neurological examination – without neurological focal signs, motor delay, intellectual development according to the age. In brain MRI and angio-MRI in SWI – images subcortically in the temporal and parietal lobes were revealed changes without signals characteristic for the haemosiderin presence and in the right cerebellar hemisphere cavernous malformations were seen. Etiology of the syndrome was not discovered. The occurrence of changes in several generations indicates the autosomal dominant nature of inheritance." @default.
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- W2185273182 date "2013-01-01" @default.
- W2185273182 modified "2023-09-27" @default.
- W2185273182 title "Blue rubber bleb nevus syndrome in 2 years old girl" @default.
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