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Specialty. Neurology. A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.
Congenital adrenal hyperplasia. Congenital adrenal hyperplasia enzymes. Congenital adrenal hyperplasia ( CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [ 1][ 2] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. [ 3]
Intracranial hemorrhage [ 1] Posterior reversible encephalopathy syndrome ( PRES ), also known as reversible posterior leukoencephalopathy syndrome ( RPLS ), is a rare condition in which parts of the brain are affected by swelling, usually as a result of an underlying cause. Someone with PRES may experience headaches, changes in vision, and ...
July 2, 2024 at 11:00 PM Researchers have found a link between semaglutide use and NAION, a rare condition that is the second-leading cause of optic nerve blindness. (Getty Images) (Jacob ...
Reversible cerebral vasoconstriction syndrome ( RCVS, sometimes called Call-Fleming syndrome) is a disease characterized by a weeks-long course of thunderclap headaches, sometimes focal neurologic signs, and occasionally seizures. [1] Symptoms are thought to arise from transient abnormalities in the blood vessels of the brain. [1]
Shaken baby syndrome. Shaken baby syndrome ( SBS ), also known as abusive head trauma ( AHT ), is a medical condition in children younger than five years old, [3] generally caused by blunt trauma, vigorous shaking, or a combination of both. [1] SBS is the leading cause of fatal head injuries in children under two, [4] with a risk of death of ...
August 2, 2024 at 5:30 AM. The number of babies born with severe birth defects affecting their growth and development is rising, as researchers now have strong evidence that illicit fentanyl is ...
Lissencephaly (/ ˌ l ɪ s. ɛ n ˈ s ɛ f. ə l. i /, meaning 'smooth brain') [1] is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. [2] It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds and grooves . [3]