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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
MARBLE DISEASE (CASE REPORT)
Kateryna Khromykh1, Veronika Dudnyk1, Tetiana Korol1
1NATIONAL PIROGOV MEMORIAL MEDICAL UNIVERSITY, VINNYTSIA, UKRAINE.
Abstract:
We present clinical case of marble disease in 5 yo girl. The management of this child was made in Vinnitsia Regional Children's Hospital (Vinnitsia, Ukraine). CBC, X-ray of bones, bone marrow biopsy, genetical testing, MRI of the brain and CT of the skull were done during this period. Marble disease is a very rare disease with very serious consequences, the prevention of which requires timely diagnosis and treatment, namely the prevention of infectious complications and early allogenic transplantation of stem cells. As it is a genetically determined disease, it is not possible to prevent the development of osteopetrosis. Genetic screening and proper treatment will allow the patient to lead an almost normal life.
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