Polycythemia neonatorum represents a clinical condition due to a high hematocrit (above 65% or 2 standard deviations above the normal value for age, measured in a venous, not capillary blood sample) and characterized by signs of hyperviscosity, poor tissue oxygenation and perfusion and a tendency for thrombosis. The test should be performed using venous blood because capillary blood normally has a higher hematocrit value.
Presentation
Newborns with polycythemia neonatorum have nonspecific findings, related most often to the central nervous and respiratory systems: irritability or lethargy, hypotonia, seizures, tremor or jitters [1], motor delay and respiratory distress, tachypnea, apnea, and cyanosis. However, some remain asymptomatic [2]. Neurologic suffering is caused by low cerebral blood flow and impaired tissue metabolism due to hypoglycemia and hypocalcemia [3] [4]. Respiratory abnormalities are due to reduced pulmonary blood flow and increased pulmonary resistance, which can lead to hypoxia [5]. Poor feeding may be a consequence of the increased respiratory effort, recurrent vomiting or heart failure. Abdominal distension can sometimes be observed. Debate exists on whether necrotizing enterocolitis, seen in some newborn polycythemia cases, is caused by the blood abnormality itself or by its treatment.
Clinical examination may also reveal plethora, signs of heart failure, transient arterial hypertension and genitourinary abnormalities: oliguria, hematuria, and priapism. Peripheral gangrene and testicular infarctions are seldom noticed.
Neonatal polycythemia often occurs in children with ABO or Rh incompatibility. In this case, jaundice is observed and whether it is due to the polycythemia (and breakdown of a high number of red blood cells) or the blood type incompatibility is hard to determine.
Entire Body System
- Trisomy 21
Genetics disorders Genetic conditions that increase fetal erythropoiesis include the following: Trisomy 13 Trisomy 18 Trisomy 21 Beckwith-Wiedemann syndrome Hypertransfusion Polycythemia-hyperviscosity could also be secondary to increased blood volume [emedicine.medscape.com]
Chromosomal abnormalities (including Turner’s syndrome, trisomy 18, trisomy 21): Certain chromosomal abnormalities are associated with a paucity of intrahepatic bile ducts, resulting in cholestasis. [pathophys.org]
- Gangrene
Peripheral gangrene and testicular infarctions are seldom noticed. Neonatal polycythemia often occurs in children with ABO or Rh incompatibility. [symptoma.com]
E08.52 Diabetes mellitus due to underlying condition with diabetic peripheral angiopathy with gangrene Includes: Diabetes mellitus due to underlying condition with diabetic gangrene E08.59 Diabetes mellitus due to underlying condition with other circulatory [app.drchrono.com]
Gastrointestinal
- Failure to Thrive
Brief resolved unexplained event -- BRUE (Medical Encyclopedia) Crying - excessive (0-6 months) (Medical Encyclopedia) Failure to thrive (Medical Encyclopedia) Hemorrhagic disease of the newborn (Medical Encyclopedia) Hyperglycemia - infants (Medical [icdlist.com]
[…] to thrive, urosepsis, poor urinary stream, and straining or grunting while voiding Appearance of erythema toxicum Multiple erythematous macules and papules (1 to 3 mm in diameter) that rapidly progress to pustules on an erythematous base Marijuana use [brainscape.com]
[…] to gain weight, failure to thrive) 缺乏預期正常生理發育,生長遲緩 Ill-defined conditions 其他診斷欠明之病態 Accidental fall 意外墜落 Vaccine against viral hepatitis B b型肝炎 預防注射 Routine infant or child health check 嬰幼兒例行之健康檢查 Observation for suspected condition, newborn 新生兒可疑病態之觀察 [money511.com]
[…] to thrive Multifactorial causes Tachycardia, fever Infection causing cholestasis Diagnosis Am Fam Physician. 2002 Feb 15; 65 ( 4 ):599-606. [pathophys.org]
[…] to thrive in newborn 新生兒生長遲滯 P928 Other feeding problems of newborn 新生兒其他餵食問題 P929 Feeding problem of newborn, unspecified 新生兒餵食問題,未特定 P93 Reactions and intoxications due to drugs adminiserred to newborn 新生兒用藥所致之反應及中毒 P930 Grey baby syndrome 灰嬰症候群 P938 [csh.org.tw]
- Recurrent Vomiting
Poor feeding may be a consequence of the increased respiratory effort, recurrent vomiting or heart failure. Abdominal distension can sometimes be observed. [symptoma.com]
Cardiovascular
- Cyanosis
[…] with polycythemia neonatorum have nonspecific findings, related most often to the central nervous and respiratory systems: irritability or lethargy, hypotonia, seizures, tremor or jitters, motor delay and respiratory distress, tachypnea, apnea, and cyanosis [symptoma.com]
[…] pol·y·cy·the·mi·a ve·ra [MIM*263300] a chronic form of polycythemia of unknown cause; characterized by bone marrow hyperplasia, an increase in blood volume as well as in the number of red blood cells, redness or cyanosis of the skin, and splenomegaly. [medical-dictionary.thefreedictionary.com]
Tachypnea, mild cyanosis, plethoric skin color, and neurological depression persisted on average for 30 h after birth. Chest X-rays showed mild cardiomegaly, pulmonary congestion and edema, and pleural effusions. [karger.com]
Frequent signs and symptoms included "feeding problems" (21.8%), plethora (20.0%), lethargy (14.5%), cyanosis (14.5%), respiratory distress (9.1%), jitteriness (7.3%), and hypotonia (7.3%). [pediatrics.aappublications.org]
Why would giving oxygen not improve cyanosis if the infant has a right-to-left shunt? Blood flow to the lungs is decreased, and unoxygenated blood is mixed with oxygenated blood in the systemic circulation. [studystack.com]
- Tachycardia
[…] newborn P283Primary sleep apnea of newborn P284Other apnea of newborn P2881Respiratory arrest of newborn P2889Other specified respiratory conditions of newborn P289Respiratory condition of newborn, unspecified P290Neonatal cardiac failure P2911Neonatal tachycardia [cms.gov]
[…] disease Cholestasis (Impaired excretion) Jaundice Accumulation of conjugated bilirubin Hepatomegaly Obstruction of hepatic outflow ducts Pale stool Lack of stercobilin (which normally gives feces its dark colour) Failure to thrive Multifactorial causes Tachycardia [pathophys.org]
Shock presents with tachycardia, a low blood pressure and delayed capillary filling time. Within 30 minutes of the haemorrhage the haemoglobin and packed cell volume start to fall rapidly. [intranet.tdmu.edu.ua]
[…] specified conditions originating in the perinatal period 779.81 Neonatal bradycardia Excludes: abnormality in fetal heart rate or rhythm complicating labor and delivery (763.81-763.83) bradycardia due to birth asphyxia (768.5-768.9) 779.82 Neonatal tachycardia [theodora.com]
[…] newborn 新生兒其他特定的呼吸病況 P289 Respiratory condition of newborn, unspecified 新生兒呼吸病況,未特定 P29 Cardiovascular disorder originating in the perinatal period 周產期的心臟血管疾患 P290 Neonatal cardiac failure 新生兒心臟衰竭 P291 Neonatal cardiac dysrhythmia 新生兒心律不整 P2911 Neonatal tachycardia [csh.org.tw]
Liver, Gall & Pancreas
- Jaundice
[…] from other and unspecified hepatocellular damage P59.20 Neonatal jaundice from unspecified hepatocellular damage P59.29 Neonatal jaundice from other hepatocellular damage P59.3 Neonatal jaundice from breast milk inhibitor P59.8 Neonatal jaundice from [icd10data.com]
Yea... 762 x 529 jpeg 133kB pic source Neonatal Jaundice 1 638 x 479 jpeg 75kB pic source Jaundice charts - Neon... 1242 x 864 jpeg 252kB pic source Neonatal Jaundice 1 638 x 479 jpeg 87kB pic source Candidiasis symptoms m... 236 x 177 jpeg 10kB pic [mnogolok.info]
[…] for signs of worsening Pathological jaundice · Clinical jaundice detected < 24 hrs of age · Rise in TSB by > 5 mg/ dl/ day ( >86 umol/l/day) · TSB > 15 mg/ dl ( > 257 umol/l) · Clinical jaundice persisting > 14 Ds · Clay/white colored stool and/or dark [pt.slideshare.net]
Breast milk jaundice : Distinct from breastfeeding jaundice, breast milk jaundice develops in the second week of life, lasts longer than physiologic jaundice, and has no other identifiable cause. [pathophys.org]
[…] due to bruising P581Neonatal jaundice due to bleeding P582Neonatal jaundice due to infection P583Neonatal jaundice due to polycythemia P5841Neonatal jaundice due to drugs or toxins transmitted from mother P5842Neonatal jaundice due to drugs or toxins [cms.gov]
- Neonatal Jaundice
jaundice from other and unspecified hepatocellular damage P59.20 Neonatal jaundice from unspecified hepatocellular damage P59.29 Neonatal jaundice from other hepatocellular damage P59.3 Neonatal jaundice from breast milk inhibitor P59.8 Neonatal jaundice [icd10data.com]
Yea... 762 x 529 jpeg 133kB pic source Neonatal Jaundice 1 638 x 479 jpeg 75kB pic source Jaundice charts - Neon... 1242 x 864 jpeg 252kB pic source Neonatal Jaundice 1 638 x 479 jpeg 87kB pic source Candidiasis symptoms m... 236 x 177 jpeg 10kB pic [mnogolok.info]
[…] neonatorum (L00)| staphylococcal scalded skin syndrome (L00)| P58.3 Neonatal jaundice due to polycythemia P61.1 Polycythemia neonatorum P83.0 Sclerema neonatorum P83.8 Other specified conditions of integument specific to newborn Inclusion: Bronze baby [codelay.com]
jaundice due to other excessive hemolysis 其他過量溶血所致之新生兒黃疸 P580 Neonatal jaundice due to bruising 瘀傷所致之新生兒黃疸 P581 Neonatal jaundice due to bleeding 出血所致之新生兒黃疸 P582 Neonatal jaundice due to infection 感染所致之新生兒黃疸 P583 Neonatal jaundice due to polycythemia [csh.org.tw]
[…] associated with preterm delivery 774.3 Neonatal jaundice due to delayed conjugation from other causes 774.30 Neonatal jaundice due to delayed conjugation, cause unspecified 774.31 Neonatal jaundice due to delayed conjugation in diseases classified elsewhere [theodora.com]
- Scleral Icterus
The most notable signs of hyperbilirubinemia are jaundice and scleral icterus. Jaundice refers to yellowing of the skin, which can be seen by blanching the skin with digital pressure. [pathophys.org]
Neurologic
- Seizure
Newborns with polycythemia neonatorum have nonspecific findings, related most often to the central nervous and respiratory systems: irritability or lethargy, hypotonia, seizures, tremor or jitters, motor delay and respiratory distress, tachypnea, apnea [symptoma.com]
Differential Diagnosis section highlights 50 new topics, including: alcohol-related seizures, dysentery and inflammatory enterocolitis, hair loss, cystic and solid pancreatic lesions, and COPD decompensation. [books.google.com]
Symptoms may include: Extreme sleepiness Feeding problems Seizures There may be signs of breathing problems, kidney failure, low blood sugar, or newborn jaundice. [medlineplus.gov]
· Often apnea and secondary asphyxia · Bradycardia · Hypotonia of muscles, hyporephlexia · Hyperesthesia · Seizures · Fixed glance · Strained large fontanel Intracranial hemorrhages · Coma · Severe breathing and cardiac disturbances · Tonic seizures, [intranet.tdmu.edu.ua]
[…] prenatal drug exposure. appear hungry, but suck & swallow poorly coordinated; hyperactive, increased muscle tone; regurgitation, vomiting, & diarrhea; signs typical of hypoglycemia but normal glucose level; restlessness; & irritability, fail to gain wt, & seizures [studystack.com]
- Lethargy
Newborns with polycythemia neonatorum have nonspecific findings, related most often to the central nervous and respiratory systems: irritability or lethargy, hypotonia, seizures, tremor or jitters, motor delay and respiratory distress, tachypnea, apnea [symptoma.com]
Frequent signs and symptoms included "feeding problems" (21.8%), plethora (20.0%), lethargy (14.5%), cyanosis (14.5%), respiratory distress (9.1%), jitteriness (7.3%), and hypotonia (7.3%). [pediatrics.aappublications.org]
[…] amount of bilirubin Nonhemolytic State Jaundice Accumulation of unconjugated bilirubin Ecchymosis/hemorrhage Birthing trauma Ruddy complexion, hepatomegaly Polycythemia Metabolic (Impaired conjugation) Jaundice Accumulation of unconjugated bilirubin Lethargy [pathophys.org]
This period provides an ideal opportunity to look out for hypothermia, respiratory distress, abnormal neurological features such as jitteriness, convulsions, excessive lethargy, etc. [intranet.tdmu.edu.ua]
- Tremor
Newborns with polycythemia neonatorum have nonspecific findings, related most often to the central nervous and respiratory systems: irritability or lethargy, hypotonia, seizures, tremor or jitters, motor delay and respiratory distress, tachypnea, apnea [symptoma.com]
The infant is irritable and may have tremors when disturbed. [studystack.com]
Gastroenteritis/Colitis) Esophagogastric Ring (Lower Esophageal Ring (Schatzki)) ESRD (End-Stage Kidney Disease) Essential Hypertension Essential Thrombocythemia (Primary Thrombocythemia) Essential Thrombocytosis (Primary Thrombocythemia) Essential Tremor [ezesauna.com]
- Stupor
Untreated, this can progress to deep stupor or coma, seizures, apnea, and increased tone (retrocollis-opisthotonus [extreme arching of the neck and back]). Kernicterus refers to the longterm effects of bilirubin toxicity. [pathophys.org]
Severe HIE · Stupor or coma is typical. [intranet.tdmu.edu.ua]
- Myoclonus
[…] movement Diminished or absent spontaneous movement Muscle tone Normal Mild hypotonia Flaccid Posture Mild distal flexion Strong distal flexion Intermittent decerebration Stretch reflexes Over-active Over-active, disinhibited Decreased or absent Segmental myoclonus [intranet.tdmu.edu.ua]
Workup
The clinical suspicion of polycythemia neonatorum is confirmed by venous hematocrit (>65%) or blood viscosity ( >12 centipoise) measurement. Additional tests should include complete cell blood count (could reveal thrombocytopenia [6] [7] as a consequence of localized thrombosis or disseminated intravascular coagulation), hypoglycemia, hypocalcemia [8], bilirubin level (high due to the high amount of bilirubin precursors). In addition, hypoxia stimulates peripheral release of young, nucleated red blood cells and reticulocytosis. Cyanotic infants may have decreased oxygenation demonstrated by arterial blood gas measurement. Maternal blood glucose should also be measured because the disease is more frequent in infants of diabetic mothers.
Urine analysis may reveal hematuria and proteinuria if renal vein thrombosis has occurred. A low glomerular filtration rate has also been described.
Postero-anterior thoracic radiography shows pulmonary congestion and cardiomegaly, therefore echocardiography is indicated in affected babies. This test will highlight the presence of decreased cardiac output and increased pulmonary resistance.
Symptomatic infants, as well as those whose hematocrit level is above 65% two hours after birth, should be evaluated in a dynamic manner, at 12 and 24 hours. Screening should be performed in children of diabetic mothers, small and large for gestational age infants and monochorionic twins [9]. In these cases, the disease should be suspected in utero, based on middle cerebral artery peak systolic velocity [10].
Treatment
Ankylosing spondylitis - Current protocols for diagnosis and treatment options. Wegener granulomatosis - Autoimmune etiology and clinical course. [netdoc.com]
For use as adjunctive therapy with interferon for treatment of chronic hepatitis C For the treatment of the common cold For the treatment of hemoglobin SC disease For the treatment of migraines For the treatment of myeloproliferative disorders without [aetna.com]
These may include: a blood test to look for the changed JAK2 gene an ultrasound scan of your tummy to look for problems in your kidneys Treatments for polycythaemia Treatment for polycythaemia aims to prevent symptoms and complications (such as blood [nhs.uk]
Treatment with alpha-interferon was initiated. Erythrocyte and platelet count are now in the normal range. [scielo.mec.pt]
Debate exists on whether necrotizing enterocolitis, seen in some newborn polycythemia cases, is caused by the blood abnormality itself or by its treatment. [symptoma.com]
Prognosis
Prevention, and Complications Prognosis good to very good in most individuals if untreated, adrenal crisis can lead to death within 1-6 weeks males usually have normal fertility; females may be abnormal fertility Prevention genetic counseling may help [medbullets.com]
Usually good prognosis Spontaneous resolution is common (70% by age 7) Visual impairment in untreated periorbital hemangioma Others References: [15] [11] [16] [17] [18] [19] [20] [21] [22] Newborn screening In the US, each state has its own newborn screening [amboss.com]
Prognosis Curing or removing the underlying cause of this disorder generally eliminates the symptoms. Resources OTHER "Secondary Erythrocytosis." The Merck Page. June 3, 1998. 〈 http://www.merck.com 〉. [encyclopedia.com]
HIE - Grading and prognosis The staging system proposed by Sarnat and Sarnat in 1976 is often useful. [intranet.tdmu.edu.ua]
Prognosis and treatment of polycythemia vera. Last reviewed June 2013. UpToDate Inc., Waltham, MA. Wang WC, Dwan K. Blood transfusion for preventing primary and secondary stroke in people with sickle cell disease. [aetna.com]
Etiology
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
Wegener granulomatosis - Autoimmune etiology and clinical course. Diabetes - disease and management information, including diagnosis, typical treatment plans and diabetes supplies. [netdoc.com]
FOLLOW-UP RECOMMENDATIONS Periodic laboratory follow-up depending on the etiology of polycythemia. Monitor for the following: Headache, dizziness, or syncope Blurred visio... Cario H, McMullin MF, Pahl HL. [5minuteconsult.com]
(Phototherapy) Treatment depends on the severity of hyperbilirubinemia, its etiology, and the risk of developing serious neurological complications. Phototherapy The mainstay of treatment for hyperbilirubinemia is phototherapy. [pathophys.org]
Increased blood viscosity can cause hypoperfusion directly by decreasing blood flow (as is seen in the lungs and the renal system), whereas other organs can become hypoperfused due to changes in arterial oxygen content (as noted in the brain). [6] Etiology [emedicine.medscape.com]
Epidemiology
[2] Neonatal polycythemia Neonatal skin lesions Erythema toxicum neonatorum Congenital dermal melanocytosis ( Mongolian spot ) Congenital melanocytic nevi Infantile hemangioma ( strawberry hemangioma ) Definition : benign vascular tumors of infancy Epidemiology [amboss.com]
Monochorionic diamniotic (MCDA) twin pregnancies with amniotic fluid discordance appear to increase the risk of development of twin anemia-polycythemia sequence (TAPS), a form of TTTS, by nearly two-fold. [12] Epidemiology Polycythemia is a relatively [emedicine.medscape.com]
Pathophysiology
[…] polycythemia Neonatal skin lesions Erythema toxicum neonatorum Congenital dermal melanocytosis ( Mongolian spot ) Congenital melanocytic nevi Infantile hemangioma ( strawberry hemangioma ) Definition : benign vascular tumors of infancy Epidemiology Pathophysiology [amboss.com]
The acquired form is more common, and pathophysiology has not been fully elucidated. [pathophys.org]
Pathophysiology Most of the clinical significance of polycythemia is related to the associated increase in blood viscosity. [3] Blood viscosity increases linearly with increased hematocrit (Hct), but it can increase exponentially when Hct is greater than [emedicine.medscape.com]
Hereditary hemochromatosis: Pathophysiology, diagnosis, and management. Crit Care Nurs Clin North Am. 2008;20(2):191-201, vi. Finazzi G, Barbui T. Evidence and expertise in the management of polycythemia vera and essential thrombocythemia. [aetna.com]
Prevention
0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [medicbind.com]
Neonatal Intensive Care Unit(NICU) Pediatrics Intensive Care Unit(PICU) Child Psychiatric Day Care Center Emergency Service (24 hours) Outpatient Service Pediatrics SPECIALTY/PRACTICE AREAS: • Pediatric pulmonology medicne • General pediatrics • Preventive [english.tmuh.org.tw]
and Complications Prognosis good to very good in most individuals if untreated, adrenal crisis can lead to death within 1-6 weeks males usually have normal fertility; females may be abnormal fertility Prevention genetic counseling may help parents with [medbullets.com]
This treatment usually prevents hemolytic disease of the newborn from developing. [msdmanuals.com]
References
- Rosenkrantz TS. Polycythemia and hyperviscosity in the newborn. Semin Thromb Hemost. 2003;29:515–27.
- Wiswell TE, Cornish JD, Northam RS. Neonatal polycythemia: Frequency of clinical manifestations and other associated findings. Pediatrics. 1986;78:26–30.
- Sarkar S, Rosenkrantz TS. Neonatal polycythemia and hyperviscosity. Semin Fetal Neonatal Med. 2008;13:248–255.
- Dempsey EM, Barrington K. Short and long term outcomes following partial exchange transfusion in the polycythaemic newborn: A systematic review. Arch Dis Child Fetal Neonatal Ed. 2006;91:F2–F6.
- Herson VC, Raye JR, Rowe JC, et al. Acute renal failure associated with polycythemia in a neonate. J Pediatr. 1982;100:137–139.
- Vlug RD, Lopriore E, Janssen M, et al. Thrombocytopenia in neonates with polycythemia: incidence, risk factors and clinical outcome. Expert Rev Hematol. 2015;8(1):123-129.
- Acunas B, Celtik C, Vatansever U, et al. Thrombocytopenia: An important indicator for the application of partial exchange transfusion in polycythemic newborn infants? Pediatr Int. 2000;42:343–347.
- Saggese G, Bertelloni S, Baroncelli GI, et al. Elevated calcitonin gene-related peptide in polycythemic newborn infants. Acta Paediatr. 1992;81:966–968.
- Oh W. Neonatal polycythemia and hyperviscosity. Pediatr Clin North Am 1986;33:523-532.
- Veujoz M, Sananès N, Severac F, et al. Evaluation of prenatal and postnatal diagnostic criteria for twin anemia-polycythemia sequence. Prenat Diagn. 2015;35(3):281-288.