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This abnormality is a paraneoplastic syndrome (i.e. caused by hyperplasia or tumors). About 35% of the cases are caused by a single aldosterone-secreting adenoma, a condition known as Conn's syndrome. [7] [8] Many patients experience fatigue, potassium deficiency and high blood pressure which may cause poor vision, confusion or headaches.
Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma (codons 630 and 634) and amyloid producing medullary thyroid carcinoma", [1] "PTC syndrome," [1] and "Sipple syndrome" [1]) is a group of medical disorders associated with tumors of the endocrine system. The tumors may be benign or malignant .
The majority of affected children present with symptoms and signs relating to the eyes such as leukokoria, redness, irritation and impaired vision, which result from retinal detachment and glaucoma. [1] [2] [3] A minority present with seizures or spasticity. The time of onset of symptoms varies from infancy to adolescence.
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary endocrine cancer syndrome characterized primarily by tumors of the parathyroid glands (95% of cases), endocrine gastroenteropancreatic (GEP) tract (30–80% of cases), and anterior pituitary (15–90% of cases). [19]
An adrenocortical adenoma or adrenal adenoma is commonly described as a benign neoplasm emerging from the cells that comprise the adrenal cortex.Like most adenomas, the adrenocortical adenoma is considered a benign tumor since the majority of them are non-functioning and asymptomatic.
The most recent data indicates that there are 25 pheochromocytoma susceptibility genes; however, just 12 are recognized as part of a well-known syndrome. [9] Determining the genetic status of a pheochromocytoma patient is crucial — each gene is inherited in a different pattern, associated with specific disease characteristics, and may respond ...
Gordon et al. reported cases of a difference disease—the "multiple mucosal neuroma syndrome"—having the physical phenotype of MEN2B, but without variations in the RET gene and without malignancy. [15] MEN2B should be entertained as a diagnosis whenever a person is found to have either medullary thyroid carcinoma or pheochromocytoma.
Over time, affected children experience mental impairment, worsening seizures and progressive loss of sight, speech and motor skills. Batten disease is a terminal disease; life expectancy varies depending on the type or variation. [7] [8] Females with juvenile Batten disease show first symptoms a year later than males, but on average die a year ...