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Rotor syndrome (also known as Rotor type hyperbilirubinemia) [2] is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive [3] bilirubin disorder characterized by non-hemolytic jaundice due to the chronic elevation of predominantly conjugated bilirubin.
Many people never have symptoms. [1] Occasionally jaundice (a slight yellowish color of the skin or whites of the eyes) may occur. [1] Gilbert syndrome is due to a genetic variant in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme.
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. [3] [6] Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. [7]
The diagnosis is generally suspected when patients from certain ethnic groups (see epidemiology) develop anemia, jaundice and symptoms of hemolysis after challenges from any of the above causes, especially when there is a positive family history. [23] Generally, tests will include: [citation needed]
Neonatal cholestasis refers to elevated levels of conjugated bilirubin identified in newborn infants within the first few months of life. [1] Conjugated hyperbilirubinemia is clinically defined as >20% of total serum bilirubin or conjugated bilirubin concentration greater than 1.0 mg/dL regardless of total serum bilirubin concentration. [2]
Clinically, neonates with omphalitis present within the first two weeks of life with signs and symptoms of a skin infection around the umbilical stump (redness, warmth, swelling, pain), pus from the umbilical stump, fever, fast heart rate (tachycardia), low blood pressure (hypotension), somnolence, poor feeding, and yellow skin ().
Health professionals can diagnose erythema toxicum neonatorum with a skin exam. Most cases of erythema toxicum neonatorum can be diagnosed without further testing. If more testing is needed to make a diagnosis, the contents of a lesion can be examined under a microscope. A health professional may make a small cut into a pus-filled lesion and ...
Neonatal jaundice; Other names: Neonatal hyperbilirubinemia, neonatal icterus, jaundice in newborns: Jaundice in a newborn: Specialty: Pediatrics: Symptoms: Yellowish discoloration of the skin and white part of the eyes [1] Complications: Seizures, cerebral palsy, kernicterus [1] Usual onset: Newborns [1] Types: Physiologic, pathologic [1] Causes