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Features relating to lung and liver disease may occur. [1] [5] It is due to a genetic mutation in the MAPKinase pathway that occurs during early development. [1] The diagnosis may be suspected based on symptoms and MRI and confirmed by tissue biopsy. [6] [7] Blood tests may show anaemia, and less commonly a low white blood cell count and low ...
Schilder disease or diffuse myelinoclastic sclerosis: is a rare disease that presents clinically as a pseudotumoural demyelinating lesion; and is more common in children. [56] [57] Solitary sclerosis: This variant was proposed (2012) by Mayo Clinic researchers. [58] though it was also reported by other groups more or less at the same time.
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
AL amyloidosis is caused by the deposition of abnormal antibody free light chains. The abnormal light chains are produced by monoclonal plasma cells, and, although AL amyloidosis can occur without diagnosis of another disorder, it is often associated with other plasma cell disorders, such as multiple myeloma and Waldenström's macroglobulinemia. [6]
Cantú syndrome apparently is inherited in an autosomal dominant fashion [7] and appears to be affected by the ABCC9 gene. [3] ABCC9 gene provides a blueprint for creating the sulfonylurea receptor 2 in the human body. [3]
Chronic liver disease in the clinical context is a disease process of the liver that involves a process of progressive destruction and regeneration of the liver parenchyma leading to fibrosis and cirrhosis. [1] "Chronic liver disease" refers to disease of the liver which lasts over a period of six months.
Children with Hurler syndrome may appear normal at birth and develop symptoms over the first years of life. Symptoms vary between patients. [citation needed] One of the first abnormalities that may be detected is coarsening of the facial features; these symptoms can begin at 3–6 months of age. The head can be large with prominent frontal bones.
Benign lymphoepithelial lesion or Mikulicz' disease is a type of benign enlargement of the parotid and/or lacrimal glands. This pathologic state is sometimes, but not always, associated with Sjögren's syndrome .