Kernicterus genetic and rare diseases information center. Kernicterus is a pathologic diagnosis, not clinical. Twenty cases 16 males had sufficient information for. Jaundice in the newborns jaundice is the most common morbidity in the first week of life, occurring in 60% of term and 80% of preterm newborn. Extremely premature sick infants are at higher risk of. In phase 1, the infant demonstrates decreased alertness, hypotonia, and poor feeding. Kernicterus is brain damage caused by unconjugated bilirubin deposition in basal ganglia and brain stem nuclei, caused by either acute or chronic hyperbilirubinemia. Opisthotonos, oculogyric crisis, seizures, and death may follow.
Jaundice is the most common cause of readmission after discharge from birth hospitalization. Kernicterus is the most severe form of neurotoxicity. Linking to a nonfederal website does not constitute an endorsement by cdc or any of its employees of the sponsors or the information and products presented on the website. Its etiology and pathogenesis overlap to some extent with hie. Kernicterus is a type of brain damage that can result from high levels of bilirubin in a babys blood. They are the basal ganglia, hippocampus, geniculate bodies and cranial nerve nuclei, especially the oculomotor, vestibular and cochlear. Kernicterus is a type of brain damage most often seen in babies. Any information contained in this pdf file is automatically generated from digital material. Kernicterus refers to brain damage that may occur when neonatal jaundice goes untreated for too long.
Some disorders cause red cells to be more fragile than normal and to break down more easily haemolysis, and this process can add significantly to the bilirubin load. Kernicterus is a devastating, disabling neurologic disorder classically characterized by the clinical tetrad of 1 choreoathetoid cerebral palsy, 2 highfrequency central neural hearing loss, 3 palsy of vertical gaze, and 4 dental enamel hypoplasia, the result of bilirubininduced cell toxicity perlstein, 1960. Hyperbilirubinemia may cause bilirubin to accumulate in the grey matter of. Winner of the standing ovation award for best powerpoint templates from presentations magazine. Bilirubin is a waste product thats produced when your liver breaks down old red blood cells so your body can remove them.
Neonatal hyperbilirubinemia is an elevated serum bilirubin level in the neonate. This was a retrospective anonymised study using information from the nhs resolution database for 20012011. Bilirubin is a naturally occurring substance in the body of humans and many other animals, but it is neurotoxic when its concentration in the blood is too high, a condition known as hyperbilirubinemia. Bilirubin is toxic to brain tissue and can cause kernicterus encephalopathy, a non. Kernicterus may be suspected within the first days of life. Links to other jaundice and kernicterus resources cdc. Kernicterus bilirubin encephalopathy is an acquired metabolic encephalopathy of the neonatal period.
Kernicterus was originally described in mature infants who died of severe rh isoimmunization such a case is rarely seen today. Other problems include increased destruction of red cells by circulating antibodies directed against them. Documentation in all newborns of either a tcb or serum bilirubin measurement before discharge, between 24 and 72 hours of life, 2, 3 is a favoured approach because visual inspection is inaccurate for determining both the presence and severity of jaundice, particularly in darkly pigmented. Pdf kernicterus and g6pd deficiencya case series from oman. Neonatal jaundice physiologic jaundice nonpathologic unconjugated hyperbilirubinemia. Aims and objectives basically, kernicterus or chronic bilirubin encephalopathy is a neurological. Bilirubin encephalopathy be is caused by very high levels of bilirubin. If history andor presentation suggest sepsis, perform blood culture, urine culture, and. Factors predisposing to neurotoxicity of unconjugated hyperbilirubinemia include. Transcutaneous bilirubin tcb or serum bilirubin measurement before discharge.
Ambalavanan md division of neonatology university of alabama at birmingham jan 2005. Kernicterus, a lifelong brain syndrome, can include cerebral palsy, mental retardation, hearing loss, and death. Bilirubin is a natural, toxic byproduct of decomposing red blood cells. It is caused by hyperbilirubinemia, a severe and untreated elevation in a newborns bilirubin concentration. Acute kernicterus remains a clinical emergency and its delayed management represents an easily preventable neonatal brain injury. To this list, we should add kernicterus bilirubinencephalopathy.
Kernicterus is caused by severe jaundice that isnt treated. Free consultation call 800 336 5297 bottar law, pllc helps victims and their families receive compensation for their injuries in medical malpractice and hospital negligence cases. Recurrence of kernicterus in term and nearterm infants in denmark. Neurologic sequelae include dystonia and athetosis, upward gaze abnormalities, sensorineural hearing loss. The diagnosis may be based upon a thorough clinical evaluation and identification of characteristic physical findings e. Diagnostic performance analysis of the pointofcare bilistick system in identifying severe neonatal hyperbilirubinemia by a multicountry approach author links open overlay panel chiara greco a iman f. Mean peak total serum bilirubin is 6 mgdl higher in asian infants. At a minimum, babies should be assessed for jaundice every 8 to 12 hours in the first 48 hours of life and again before 5 days of age. Neonatal jaundice visible form of bilirubinemia adult sclera 2mg dl newborn skin 5 mg dl occurs in 60% of term and 80% of preterm neonates however, significant jaundice occurs in 6 % of term babies. Although it is now rare, kernicterus still occurs and can nearly always be prevented.
It is unknown whether minor degrees of kernicterus can cause less severe neurologic impairment eg. It happens because a newborns liver cant process bilirubin quickly enough. Although 60% of babies will develop jaundice, and most jaundice is benign, severe hyperbilirubinemia can cause serious permanent brain damage. The clinical presentation can be divided into three phases. Yet, early detection and management of jaundice can prevent kernicterus. It can cause athetoid cerebral palsy and hearing loss. Although neonatal jaundice is common, acute bilirubin encephalopathy and kernicterus i. Acute bilirubin encephalopathy and its progression to kernicterus.
Approach to jaundiced baby get age of baby hours, gestational age, pregnancy hx, septic risk factors, complications with delivery assess clinical condition well or ill decide whether jaundice is physiological or pathological look for evidence of kernicterus in deeply jaundiced nb lethargy and poor feeding, poor or. It is unknown whether minor degrees of kernicterus can cause less severe neurologic impairment eg, perceptualmotor problems, learning disorders. Early detection and management of jaundice can prevent kernicterus. Worlds best powerpoint templates crystalgraphics offers more powerpoint templates than anyone else in the world, with over 4 million to choose from. Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. Kernicterus is a rare kind of preventable brain damage that can happen in newborns with jaundice jaundice is a yellow coloring of the skin and. In most cases, persistent yellowing of the skin, mucous membranes. Kernicterus pediatrics merck manuals professional edition. Toxic levels of bilirubin may accumulate in the brain, potentially. The management of neonatal jaundice is targeted at preventing kernicterus.
Systembased approach to management of neonatal jaundice and prevention of kernicterus. Although hyperbilirubinemia is common, extreme hyperbilirubinemia resulting in kernicterus is rare joint commission on accreditation of healthcare organizations jcaho, 2001. Kernicterus symptoms, diagnosis, treatments and causes. Kernicterus is bilirubin staining of the deep gray matter nuclei of the brain and brainstem. Management of hyperbilirubinemia in the newborn infant 35 or. Jaundice, the yellowing of the skin caused by a buildup of bilirubin the product of red blood cell breakdown in a babys blood and tissues, is often harmless when treated properly. We report six cases of kernicterus examined by mri. The bilirubin concentration causing kernicterus varies depending on the brains vulnerability to bilirubins neurotoxic effects. Clinically, kernicterus is suspected based on the history of hyperbilirubinemia and the clinical manifestations as mentioned above.
If the level of bilirubin is very high or a baby is very ill, the substance will move out of the. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. High levels of bilirubin in the body can cause the skin to look yellow jaundice. Due to decreased in serum protein binding sites there is an increase in competition and chances of kernicterus. More detailed information about the symptoms, causes, and treatments of kernicterus is available below symptoms of kernicterus. Jaundice introduction approximately 60% of term babies and 85% of preterm babies will develop clinically apparent jaundice. Neonatal jaundice pdf 525p this note covers the following topics. Postmortem exam of the brain is the definitive diagnosis. Kernicterus is a rare neurological disorder characterized by excessive levels of bilirubin in the blood hyperbilirubinemia during infancy.
Its caused by an extreme buildup of bilirubin in the brain. Kernicterus is a bilirubininduced brain dysfunction. All showed symmetrical highsignal lesions in the globus pallidus bilaterally on long tr images. The word kernicterus means yellow kern, kern being the structures of the brain that are most commonly affected. Pdf clinicopathological spectrum of bilirubin encephalopathy. Bilirubin is a yellow pigment that is created as the body gets rid of old red blood cells. We examined claims made against the national health service nhs involving neonatal jaundice in order to determine whether there were lessons that could be learnt from common themes. Kernicterus may result in intellectual disability, choreoathetoid cerebral palsy, sensorineural hearing loss, and paralysis of upward gaze later in childhood. Kernicterus is caused by unconjugated hyperbilirubinemia that develops either as a result of hemolytic disease rh incompatibility, hereditary spherocytosis, other hemolytic disorders or because of inability of. Kernicterus is a result of displacing bilirubin from albumin sites.
Physiologic neonatal jaundice which can affect about 60% of all newborn babies is a very common condition in which the skin and whites of the eyes are yellowish in color within a few days after birth, due to high levels of a yellow pigment bilirubin created when the. Total serum bilirubin peaks at age 35 d later in asian infants. Excessive newborn hyperbilirubinemia can cause permanent brain damage, that is, chronic bilirubin encephalopathy be, also known as kernicterus. Kernicterus nord national organization for rare disorders. Kernicterus is a complication of neonatal jaundice. Kernicterus also causes problems with vision and teeth and sometimes can cause intellectual disabilities. However, when the level of bilirubin in a babys blood rises to a dangerous level, bilirubin can enter brain tissue. Kernicterus pediatrics msd manual professional edition. Bilirubin levels of 20 mgdl or higher may cause choreoathetoid cerebral palsy, sensorineural hearing loss, eye disorders and enamel dysplasia in term infants. The degree of hyperbilirubinemia does not correlate well with the development or severity of. Diagnostic performance analysis of the pointofcare. Clinicopathological spectrum of bilirubin encephalopathykernicterus. Evaluation and treatment of neonatal hyperbilirubinemia.
Pdf bilirubin encephalopathykernicterus is relatively rare, but continues to occur despite universal newborn screening. A rare condition involving high blood levels of bilirubin which can also accumulate in the brain and lead to neurological problems. Theyll give your presentations a professional, memorable appearance the kind of sophisticated look that todays audiences expect. Ppt jaundice powerpoint presentation free to download. The most common type is unconjugated hyperbilirubinemia, which is visible as jaundice in the first week of life. Ratzan law group 1450 brickell avenue, suite 2600 miami, florida 331 toll free. When bilirubin concentration exceeds the binding capacity of serum albumin displacement of bilirubin from albumin by acidosis or certain drugs e. Genetic factors in neonatal hyperbilirubinemia and kernicterus s. Factors that influence hyperbilirubinaemia and kernicterus. Universal screening for neonatal hyperbilirubinemia is. Kernicterus the staining and subsequent damage of the brain by bile pigment bilirubin.
Kernicterus can occur without signs and symptoms 2, but acute kernicterus in term babies is usually characterized by changes in muscle tone, drowsiness, poor feeding, a high pitched cry, apnea, possible seizures, fever, and death 3. Two showed highsignal lesions in the subthalamic nuclei and in the corticospinal tracts of the midbrain. Kernicterus and newborn jaundice syracuse medical malpractice lawyer. American association of blood banks technical manual committee. Bilirubin is an orangeyellow bile pigment that is a byproduct of the natural breakdown of hemoglobin in red blood cells hemolysis. Historically, rhesus haemolytic disease involving rhesus blood group. Its normal for newborns to have high bilirubin levels.
1666 1501 1653 210 289 743 1288 617 185 1311 680 202 960 313 487 1195 127 644 357 157 623 1154 1223 941 1525 461 1049 649 66 631 723 289 888 161 440 604 365