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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.
This lack of oxygenation in the bloodstream can also be the cause of symptoms regarding issues with fine motor tasks or cognitive issues. [ 15 ] Other symptoms of Raghib syndrome are usually classified as a cryptogenic stroke, otherwise known a stroke resulting from an unknown origin. [ 16 ]
Around the world, the most common cause of congenital iodine deficiency syndrome (endemic cretinism) [1] is dietary iodine deficiency. Iodine is an essential trace element, necessary for the synthesis of thyroid hormones. Iodine deficiency is the most common preventable cause of neonatal and childhood brain damage worldwide. [11]
Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
The Mayo Clinic diet was created by weight management practitioners at the Mayo Clinic and was designed as a lifestyle change program to promote gradual and sustained weight loss, says Melissa ...
Mast cell activation syndrome (MCAS) is a term referring to one of two types of mast cell activation disorder (MCAD); the other type is idiopathic MCAD. [1] MCAS is an immunological condition in which mast cells, a type of white blood cell, inappropriately and excessively release chemical mediators, such as histamine, resulting in a range of chronic symptoms, sometimes including anaphylaxis or ...
Absence of the XK protein is an X-linked disease. [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases. [4]