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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 .
A child who was eventually diagnosed with cerebroretinal microangiopathy with calcifications and cysts was first described in the literature in 1987. [ 9 ] [ 15 ] The disorder was suspected of being allelic with either the Revesz syndrome [ 2 ] or leukoencephalopathy with calcifications and cysts.
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.
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]
It was first described by Wagenmann in 1922, [3] and was first recognized as a syndrome in 1965–1966 by E.D. Williams and D.J. Pollock. [4] [5] It is caused by the pathogenic variant p.Met918Thr in the RET gene. This variant can cause medullary thyroid cancer and pheochromocytoma.
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 ...
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 ...