LIPOGRANULOMATOSIS DE FARBER PDF

Description Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body lipid metabolism. In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues lipogranulomas , and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen hepatosplenomegaly , and developmental delay. Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features.

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Description Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body lipid metabolism. In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints.

Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues lipogranulomas , and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen hepatosplenomegaly , and developmental delay. Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features.

Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood. Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay.

Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood. Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues.

Children with this type typically do not survive past their first year of life. Type 5 is characterized by progressive decline in brain and spinal cord central nervous system function, which causes paralysis of the arms and legs quadriplegia , seizures, loss of speech, involuntary muscle jerks myoclonus , and developmental delay.

Children with type 5 Farber lipogranulomatosis survive into early childhood. Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis. Related Information.

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He was the younger brother of the noted philosopher and University of Buffalo professor Marvin Farber — As Farber was fluent in German, [4] he undertook his first year of medical school at the Universities of Heidelberg and Freiburg in Germany. Farber was an extremely meticulous and precise scientist, and his laboratory become known for its tidiness. Many remain classic references today, such as his book on autopsy methods and techniques titled The Postmortem Examination.

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