Diseases of young children include any abnormal conditions that primarily affects infants and children, or those in the age span between fetus and adolescent.

Examples of diseases of young children include:

• Congenital anomalies
• Prematurity
• Fetal growth restriction
• Perinatal infections
• Fetal hydrops
• Inborn errors of metabolism
• Genetic disorders
• Sudden infant death syndrome
• Tumors and tumor-like lesions of infancy and childhood

What are Congenital Anomalies?

Congenital anomalies are anatomic defects that are present at birth. Congenital anomalies are the most common cause of mortality in the first year of life.

What Causes Congenital Anomalies?

Congenital anomalies may be be caused by genetic factors, environmental factors, or a combination of the two (multifactorial).

Examples of genetic anomalies include:

• Down syndrome
• Turner syndrome
• Klinefelter syndrome

Examples of environmental anomalies include:

• Rubella
• Thalidomide
• Alcohol use during pregnancy

Examples of multifactorial anomalies include:

• Cleft lip
• Cleft palate
• Neural tube defects

What are Teratogens?

Teratogens are substances that may cause an abnormality following fetal exposure to the teratogen during pregnancy. The first half of pregnancy is the most vulnerable period to teratogens. The types or severity of abnormalities caused by a teratogenic agent depends on the genetic susceptibilities carried by the mother and the fetus.

Known teratogens include:

• Cyclopamine
• Lithium
• Thalidomide
• Valproic Acid
• Vitamin A

What is a Malformation?

A malformation is a non-progressive, congenital morphologic anomaly of a single organ or body part due to an alteration of the primary developmental program.

Examples of malformations include:

• Cleft lip
• Cleft palate
• Congenital heart defect
• Neural tube defects
• Spina bifida

What is a Disruption?

A disruption is a non-progressive, congenital morphologic anomaly due to the breakdown of a body structure that had a normal developmental potential.

Examples of disruptions include:

• Facial clefts
• Missing digits
• Missing limbs

What is a Deformation?

A deformation is an altered shape or position of a body part due to aberrant mechanical force that distorts an otherwise normal structure.

Examples of deformations include:

• Arthrogryposis
• Craniofacial asymmetry
• Erb’s palsy
• Klumpke’s palsy
• Talipes

What is Dysplasia?

Dysplasia is a prenatal or postnatal morphologic anomaly caused by dynamic or ongoing alteration of cellular constitution, tissue function, or tissue organization within a specific organ or a specific tissue type.

Examples of dysplasia include:

• Achondrogenesis
• Hip dysplasia
• Multicystic dysplastic kidney
• Myelodysplastic syndrome
• Thanatophoric dysplasia

What is a Sequence?

A sequence is one or more secondary morphologic anomalies known or presumed to cascade from a single malformation, disruption, dysplasia, or deformation. The classic example of a sequence is Potter’s syndrome aka oligohydramnios sequence.

What is Potter’s Syndrome?

Potter’s syndrome aka oligohydramios sequence occurs if the volume of amniotic fluid is less than normal for the corresponding period of gestation. The kidneys do not produce enough urine. The fetal urine is critical to the proper development of the lungs by aiding in the expansion of the airways by means of hydrodynamic pressure and by also supplying proline which is a critical amino acid for lung development. Without fetal urine, the alveoli remain underdeveloped at the time of birth, and the infant may not be able to breathe air properly. This may lead to respiratory distress shortly after birth due to pulmonary hypoplasia.

What is Malformation Syndrome?

A malformation syndrome is a group of congenital anomalies thought to be pathologically related to each other that cannot be explained by a single specific initial defect.

Examples of malformations include:

• Cleft lip
• Cleft palate
• Down syndrome.
• Heart defects
• Neural tube defects
• Spina bifida

What is Prematurity?

Prematurity is defined as a gestational age less than 37 weeks. Prematurity is the second most common cause of neonatal mortality.

Risks that may cause prematurity include: Uterus issues, cervical issues, placenta issues, smoking cigarettes, drug use, diabetes, hypertension, stress, genital tract infections, amniotic fluid infections, multiple miscarriages, and physical trauma.

What is Preterm Premature Rupture of Placental Membranes?

Preterm premature rupture of placental membranes (PPROM) is a pregnancy complication. In this condition, the amniotic membrane surrounding the baby ruptures before the 37th week of pregnancy. Once the amniotic membrane breaks there is increased risk for infection, and a higher likelihood of preterm birth.

What is Fetal Growth Restriction?

Fetal growth restriction is when a fetus does not grow as expected. Fetal growth restriction is due to a problem or abnormality which prevents cells and tissues from growing or causes cells to decrease in size. Fetal growth restriction is most commonly caused by inadequate maternal-fetal circulation.

What is Small for Gestational Age?

Small for gestational age (SGA) is a term used to describe babies that are smaller than normal for the number of weeks of pregnancy they are in. Small for gestational age babies have birth weights below the 10th percentile. Small for gestational age may occur when the fetus does not get adequate amounts of oxygen or nutrients needed to grow and develop organs and tissues. Small for gestational age can begin at any time in pregnancy.

What Characterizes Fetal Abnormalities?

Fetal abnormalities are characterized by reduced growth potential of the fetus despite proper maternal nutrient supply.

What Characterizes Placental Abnormalities?

Placental abnormalities are characterized by insufficient uteroplacental blood supply.

What Characterizes Maternal Abnormalities in Placental Blood Flow?

Maternal abnormalities in placental blood flow are characterized by issues that result in decreased placental blood flow. Examples of maternal abnormalities in placental blood flow include:

• Eclampsia
• Preeclampsia
• Chronic hypertension

What is Neonatal Respiratory Distress Syndrome?

Neonatal respiratory distress syndrome is a disease in which a baby’s lungs are not fully developed and cannot provide enough oxygen which causes breathing difficulties. Neonatal respiratory distress syndrome usually affects premature babies. Neonatal respiratory distress syndrome is also called surfactant deficiency lung disease because the lungs are not able to make enough surfactant. Surfactant is a foamy substance that keeps the lungs fully expanded so that newborns can breathe in air once they are born. Neonatal respiratory distress syndrome may be complicated by retinopathy of prematurity bronchopulmonary displasia, necrotizing enterocolitis, intraventricular hemorrhage, or germinal matrix hemorrhage.

What is the Pathology of Neonatal Respiratory Distress Syndrome?

The pathology of neonatal respiratory distress syndrome is:

–Etiology: The cause of neonatal respiratory distress syndrome is a lack of a slippery substance in the lungs called surfactant.

–Genes involved: Mutations in the genes encoding SP-B (SFTPB), SP-C (SFTPC), and ABCA3 (ABCA3) which disrupt surfactant function.

–Pathogenesis: The sequence of events that lead to neonatal respiratory distress syndrome are respiratory bronchioles and alveolar ducts that are poorly supported structures in the immature lung are without surfactant leaving them susceptible to disruption through shear forces. Uncontrolled increases in pressure, such as that exerted during positive pressure resuscitation, can lead to high tidal volumes and over distension, epithelium disruption, and neonatal respiratory distress syndrome.  

–Morphologic changes: The morphologic changes involved with neonatal respiratory distress syndrome are waxlike layers of hyaline membrane that line the collapsed alveoli of the lung. In addition, the lungs may show hemorrhage, over distention of airways, and damage to the type I pneumocytes.

How does Neonatal Respiratory Distress Syndrome Present?

Patients with neonatal respiratory distress syndrome are typically male infants. Neonatal respiratory distress syndrome usually develops in the age range of 26-28 weeks gestation. The symptoms, features, and clinical findings associated with neonatal respiratory distress syndrome include: rapid breathing very soon after birth, nasal flaring, chest retractions, and grunting with each breath.

How is Neonatal Respiratory Distress Syndrome Diagnosed?

Neonatal respiratory distress syndrome is diagnosed with a clinical examination by a doctor, which will include radiographic imaging such as a chest X-ray. Other tests such as arterial blood gas analysis may be performed to determine if the newborn has enough oxygen in the blood. An echocardiography may also be performed to assess for heart defects which may be another cause of the newborn’s symptoms.

How is Neonatal Respiratory Distress Syndrome Treated?

Neonatal respiratory distress syndrome is treated by supportive care and respiratory support which includes nasal cannula, continuous positive airway pressure, and surfactant. A ventilator may be necessary for severe neonatal respiratory distress syndrome cases. The patients with neonatal respiratory distress syndrome may also receive intravenous antibiotics.

What is the Prognosis of Neonatal Respiratory Distress Syndrome?

The prognosis of neonatal respiratory distress syndrome is good. The mortality of neonatal respiratory distress syndrome is < 10%. However, severe hypoxemia can result in multiple organ failure and death.

What is Retinopathy of Prematurity?

Retinopathy of prematurity is a potentially blinding eye disorder that primarily affects premature infants weighing about 3 pounds or less that are born before 31 weeks of gestation.

What is the Pathology of Retinopathy of Prematurity?

The pathology of retinopathy of prematurity is:

–Etiology: The cause of retinopathy of prematurity is when abnormal blood vessels grow and spread throughout the retina, the tissue that lines the back of the eye. These abnormal blood vessels are fragile and can leak, which can scar the retina and pull the retina out of position.

–Genes involved: Genes for vascular endothelial growth factor (VEGF), the Wnt signaling pathway, insulin-like growth factor 1 (IGF-1), inflammatory mediators, and brain-derived neurotrophic factor (BDNF).

–Pathogenesis: The sequence of events that lead to retinopathy of prematurity are delayed retinal vascular growth after premature birth followed by hypoxia induced neoangiogenesis (new blood vessel growth) on the retina.

–Morphologic changes: The morphologic changes involved with retinopathy of prematurity include abnormal blood vessels which are weak and fragile that grow and spread throughout the retina.

How does Retinopathy of Prematurity Present?

Patients with retinopathy of prematurity have no significant difference between gender. Premature babies born before 31 weeks gestation and less than 3 pounds are at increased risk. The symptoms, features, and clinical findings associated with retinopathy of prematurity are very subtle, an ophthalmologist is needed to recognize the features of the disease.

How is Retinopathy of Prematurity Diagnosed?

Retinopathy of prematurity is diagnosed by ophthalmoscopy which examines the internal structures of the eyes, specifically checking for abnormality of the retinas. In this process the pupils are dilated by eyedrops to study the retinas which may show a line of demarcation and a ridge and proliferation of retinal vessels if retinopathy of prematurity is present.

How is Retinopathy of Prematurity Treated?

Retinopathy of prematurity is treated by laser therapy which burns away the area around the edge of the retina with abnormal blood vessels. Bevacizumab may help to stop the progression because it is antivascular endothelial growth factor monoclonal antibody.

What is the Prognosis of Retinopathy of Prematurity?

The prognosis of retinopathy of prematurity is excellent because it may resolve without treatment, and may resolve without damage. In mild cases the abnormal retinal blood vessels may heal on their own within the first four months of life.

What is Bronchopulmonary Dysplasia?

Bronchopulmonary dysplasia is a form of chronic lung disease that affects newborns, most often those who are born prematurely and need oxygen therapy.

What is the Pathology of Bronchopulmonary Dysplasia?

The pathology of bronchopulmonary dysplasia is:

–Etiology: The cause of bronchopulmonary dysplasia is damage to the delicate tissue of the lungs. Mostly this disorder develops after a premature baby receives additional oxygen or has been on a ventilator.

–Genes involved: CCL18, NBL1

–Pathogenesis: The sequence of events that lead to bronchopulmonary dysplasia involves various factors which can not only injure small airways but also interfere with alveolar septation. Injury from mechanical ventilation and reactive oxygen species to premature lungs in the presence of antenatal factors predisposing the lungs to bronchopulmonsry dysplasia form the basis of pathogenesis in preterm neonates. An increase in proinflammatory cytokines, tumor necrosis factor alpha and growth factors and angiogenic factors results in aberrant tissue repair and arrest in lung development.

–Morphologic changes: The morphologic changes involved with bronchopulmonary dysplasia are bronchi of the lungs are damaged, causing tissue destruction (dysplasia) in the tiny air sacs of the lung (alveoli).

How does Bronchopulmonary Dysplasia Present?

Patients with bronchopulmonary dysplasia are typically male premature neonates born more than 10 weeks early. The symptoms, features, and clinical findings associated with bronchopulmonary dysplasia include: rapid breathing, wheezing, labored breathing, repeated lung infections and difficulty in feeding.

How is Bronchopulmonary Dysplasia Diagnosed?

Bronchopulmonary dysplasia is diagnosed by chest X-rays, blood tests to check oxygen levels, and echocardiography to check pulmonary hypertension.

How is Bronchopulmonary Dysplasia Treated?

Bronchopulmonary dysplasia has no medical treatment. Treatment focuses good nutrition to help the lungs grow and develop. During this time, babies get breathing and oxygen help so that they can grow and thrive.

What is the Prognosis of Bronchopulmonary Dysplasia?

The prognosis of bronchopulmonary dysplasia is good. Infants with bronchopulmonary dysplasia typically gradually improve after 2 to 4 months of supplemental oxygen or assisted ventilation. Most infants survive, but some infants with very severe disease die even after months of care.

What is Necrotizing Enterocolitis?

Necrotizing enterocolitis is a serious gastrointestinal problem that mostly affects premature babies. The condition inflames intestinal tissue, causing it to die. A hole (perforation) may form in the baby’s intestine.

What is the Pathology of Necrotizing Enterocolitis?

The pathology of necrotizing enterocolitis is:

–Etiology: The cause of necrotizing enterocolitis is when tissue in the large intestine (colon) gets inflamed. Low birth weight, small for gestational age, low gestational age, assisted ventilation, premature rupture of membranes, sepsis, and hypotension have been issues associated with causing necrotizing enterocolitis.

–Genes involved: IL-4Rα gene.

–Pathogenesis: The sequence of events that lead to necrotizing enterocolitis are intestinal immaturity that leads to a compromised intestinal epithelial barrier, an underdeveloped immune defense, and altered vascular development and tone. The compromised epithelial barrier and underdeveloped immune system, when exposed to luminal microbiota that have been shaped by formula feedings, antibiotic exposure, and cesarean delivery, can lead to intestinal inflammation and sepsis.

–Morphologic changes: The morphologic changes involved with necrotizing enterocolitis are tissue in the small or large intestine is injured or inflamed, that may cause transmural inflammation, transmural necrosis, and even perforation.

How does Necrotizing Enterocolitis Present?

Patients with necrotizing enterocolitis are typically male premature infants who weigh less than 1000 g at birth. The symptoms, features, and clinical findings associated with necrotizing enterocolitis include vague symptoms like irritability, excessive crying, abdominal pain, and perhaps elevated temperature.

How is Necrotizing Enterocolitis Diagnosed?

Necrotizing enterocolitis is diagnosed by abdominal X rays, fecal analysis, and blood tests to check for infections.

How is Necrotizing Enterocolitis Treated?

Necrotizing enterocolitis is treated by nasogastric tube suction of gas and fluids, antibiotics for infections, stopping feeding, providing nutrients through IV catheter, and gastrointestinal surgery intervention. 

What is the Prognosis of Necrotizing Enterocolitis?

The prognosis of necrotizing enterocolitis is good. Most infants recover fully and do not have further feeding problems. Some babies may have future gastrointestinal problems like constipation, diarrhea, malabsorption, etc.

What is an Intraventricular Hemorrhage?

An intraventricular hemorrhage is bleeding into the fluid-filled areas, or ventricles, surrounded by the brain in new born babies. The condition is most often seen in premature babies, and the smaller and more premature the infant.

What is the Pathology of Intraventricular Hemorrhage?

The pathology of intraventricular hemorrhage is:

–Etiology: The cause of intraventricular hemorrhage is a lack of oxygen to the brain, due to a difficult or traumatic birth, or from complications after delivery. Bleeding can occur because blood vessels in a premature baby’s brain are very fragile and can rupture easily which allows blood to escape from the vessels and pool into abnormal spaces.

–Genes involved: Factor V Leiden, methylenetetrahydrofolate reductase gene (MTHFR) variants, prothrombin 20210G>A variant.

–Pathogenesis: The sequence of events that lead to an inherent fragility of the germinal matrix vasculature may be susceptible to hemorrhage. Fluctuations in cerebral blood flow may induce rupture of vasculature. If there are associated platelet or coagulation disorders, the homeostasis mechanisms are impaired which might worsen the hemorrhage.

–Morphologic changes: The morphologic changes involved with intraventricular hemorrhage are accumulation of blood within the cranial vault which may occur within the meningeal spaces, or within the brain parenchyma. Hemorrhage within the meninges or the associated potential spaces, including epidural hematoma, subdural hematoma, and subarachnoid hemorrhage occur.

How does Intraventricular Hemorrhage Present?

Patients with intraventricular hemorrhage are typically male gender smaller and more premature. Half of this disease pccurs in first 6 hours of life. The symptoms, features, and clinical findings associated with intraventricular hemorrhage include: apnea, slow heart rate, anaemia seizures, poor feeding and irritability. Vaginal delivery, low Apgar score, severe respiratory distress syndrome, pneumothorax, hypoxia, hypercapnia, seizures, patent ductus arteriosus, infection, and others seem to increase primarily the fluctuations in the cerebral blood flow and thus, represent important risk factors to the development of disease.

How is Intraventricular Hemorrhage Diagnosed?

Intraventricular hemorrhage is diagnosed by ultrasound imaging of the head, perhaps a head CT, and blood tests to check for anemia, coagulopathies, blood type and screening, and infections.

How is Intraventricular Hemorrhage Treated?

Intraventricular hemorrhage is treated symptomatically. There is no current therapy to stop the bleeding. Symptomatic treatment like blood transfusion may be given to improve blood pressure and blood count.

What is the Prognosis of Intraventricular Hemorrhage?

The prognosis of intraventricular hemorrhage is good. Mortality of intraventricular hemorrhage is less than 10% in infants. Bleeding in the brain can put pressure on the nerve cells and damage them. If the nerve cells are severely damaged, it can result in irreversible brain injury.

What is a Germinal Matrix Hemorrhage?

A germinal matrix hemorrhage is a bleeding into the subependymal germinal matrix. There may be subsequent rupture into the lateral ventricle.

What is the Pathology of Germinal Matrix Hemorrhage?

The pathology of germinal matrix hemorrhage is:

–Etiology: The cause of germinal matrix hemorrhage is the weak blood vessels of the germinal matrix are predisposed to hemorrhage. Stress experienced by a premature baby after birth may cause these weak vessels burst. The subsequent bleeding occurs initially in the periventricular areas causing a periventricular hemorrhage.

–Genes involved: Methylenetetrahydrofolate reductase variants

-Pathogenesis: The sequence of events that lead to germinal matrix hemorrhage are fragile thin-walled blood vessels that rupture. Hence the microcirculation in this particular area is extremely sensitive to hypoxia and changes in perfusion pressure. It is most frequent before 35 weeks gestation and is typically seen in very low birth-weight premature infants due to their decreased ability for regulate cerebral blood flow. Increased arterial blood pressure in these blood vessels leads to rupture and hemorrhage into the germinal matrix.

–Morphologic changes: The morphologic changes involved with germinal matrix hemorrhage are pooling of blood in a potential space.

How does Germinal Matrix Hemorrhage Present?

Patients with germinal matrix hemorrhage typically have no gender preference. Premature infants are at increased risk. The symptoms, features, and clinical findings associated with germinal matrix hemorrhage includes nose bleeds, respiratory depression, abnormal posturing, enlarged head due to bulging fontanelles, and seizures.

How is Germinal Matrix Hemorrhage Diagnosed?

Germinal matrix hemorrhage is diagnosed by ultrasound of the head and physical examination.

How is Germinal Matrix Hemorrhage Treated?

Germinal matrix hemorrhage is treated by antenatal dexamethasone administered to the mother or indomethacin administered to the infant. The ideal method is to prevent premature delivery.

What is the Prognosis of Germinal Matrix Hemorrhage?

The prognosis of germinal matrix hemorrhage is good for grade I and grade II germinal matrix hemorrhages. The prognosis depends on the extent of hemorrhage and the presence of hydrocephalus. Grades III and IV of germinal matrix hemorrhages have a poor prognosis. There is a 90% mortality for grade IV germinal matrix hemorrhages.

What are Perinatal Infections?

Perinatal infections are acquired just before birth often after rupture of membranes or as the neonate passes through the birth canal. Perinatal infections are typically acquired transcervically (ascending) or transplacentally (hematologically).

• Transcervical (ascending) Infections tend to be bacterial or viral.
• Transplacental (hematologic) infections are typically parasitic parasitic, but can be viral and occasionally bacterial.

What is Neonatal Sepsis?

Neonatal sepsis is a blood infection that occurs in an infant that is less than 90 days old. Early-onset sepsis is seen in the first week of life. Late onset sepsis occurs after 1 week through 90 days (3 months) old.

What is the Pathology of Neonatal Sepsis?

The pathology of neonatal sepsis is:

–Etiology: The cause of neonatal sepsis is bacteria such as Listeria, Escherichia coli some strains of streptococcus. Group B streptococcus (GBS) has been a major cause of neonatal sepsis.

–Genes involved: SNPs in IL1β and MMP-16 genes.

–Pathogenesis: The sequence of events that lead to neonatal sepsis are early-onset sepsis associated with acquisition of microorganisms from the mother. Infection may occur hematogenously, transplacental, ascending from the cervix.  

–Morphologic changes: The morphologic changes involved with neonatal sepsis includes signs of infection.

How does Neonatal Sepsis Present?

Patients with neonatal sepsis are typically males that present in an age range of 3 days to 120 days. The symptoms, features, and clinical findings associated with neonatal sepsis include breathing problems, body temperature changes, diarrhea, seizures, heart rate changes, low blood sugar.

How is Neonatal Sepsis Diagnosed?

Neonatal sepsis is diagnosed by blood tests for infections which include blood culture, urine tests, and a spinal tap to test for meningitis in the cerebrospinal fluid. 

How is Neonatal Sepsis Treated?

Neonatal sepsis is treated with combined intravenous (IV) aminoglycoside and expanded-spectrum penicillin antibiotic therapy.

What is the Prognosis of Neonatal Sepsis?

The prognosis of neonatal sepsis is poor. Neonatal sepsis may result in death.

What is Fetal Hydrops?

Fetal hydrops is the accumulation of edematous fluid in the fetus during intrauterine growth.

What is the Pathology of Fetal Hydrops?

The pathology of fetal hydrops is:

–Etiology: The cause of fetal hydrops is an imbalance of interstitial fluid production and lymphatic return. Fluid accumulation in the fetus can result from obstructed lymphatic flow, congestive heart failure, or decreased plasma osmotic pressure.

-Genes involved: Rh incompatibility

–Pathogenesis: The sequence of events that lead to fetal hydrops are when the rate of interstitial fluid production by capillary ultrafiltration exceeds the rate of interstitial fluid return to the lymphatic circulation. Developmental differences in the microcirculation and lymphatic system of the fetus, as compared with mature subjects, renders the fetus susceptible to interstitial fluid accumulation.

–Morphologic changes: The morphological changes involved with fetal hydrops are the presence of 2 or more abnormal fluid collections in the fetus. These include ascites, pleural effusions, pericardial effusion, and generalized skin edema.

How does Fetal Hydrops Present?

Fetal hydrops does not have gender differences.  Patients wit hfetal hydrops typically present 12 to 20 weeks gestation. The symptoms, features, and clinical findings associated with fetal hydrops include thickened placenta, large amounts of amniotic fluid, enlarged liver, enlarged spleen, enlarged heart in the baby, fluid buildup in the baby’s abdomen. Symptoms after birth are severe swelling, splenomegaly, hepatomegaly, and difficulty breathing.

How is Fetal Hydrops Diagnosed?

Fetal hydrops can be diagnosed during pregnancy or after the baby is born with ultrasound, blood tests, or amniocentesis.

How is Fetal Hydrops Treated?

Fetal hydrops treatment during pregnancy is treatable only in certain situations. After birth, fetal hydrops treatment may include: respiratory support for difficulty breathing, removal of excessive fluid from spaces around the lungs and abdomen using a needle, and diuretic medications to help the kidneys remove excess fluid. Red blood cell transfusions may also be indicated.

What is the Prognosis of Fetal Hydrops?

The prognosis of fetal hydrops is poor. Fetal hydrops can be fatal. The earlier in the pregnancy that fetal hydrops is identified, the worse the prognosis is.

What is Immune hydrops?

Immune hydrops is hemolytic disease caused by incompatibility between blood group antigens of mother and fetus.

What is the Pathology of Immune Hydrops?

The pathology of immune hydrops is:

–Etiology: The cause of immune hydrops is complication of a severe form of Rh incompatibility. This is a condition in which mother who has Rh negative blood type makes antibodies to her baby’s Rh positive blood cells, and the antibodies cross the placenta.

-Genes involved: Rh incompatibility

–Pathogenesis: The sequence of events that lead to immune hydrops is hemolysis caused by the Rh incompatibility. This results in extramedullary hematopoiesis in the fetal liver and bone marrow. The push to make more erythroblasts to help compensate with the hemolysis over works the liver causing hepatomegaly. The resulting liver dysfunction decreases albumin output which in turn decreases oncotic pressure. Consequentially, the decrease in oncotic pressure results in overall peripheral edema and ascites.

–Morphologic changes: The morphologic changes involved with immune hydrops are hemolysis of fetal red blood cells causing severe anemia.

How does Immune Hydrops Present?

Immune hydrops does not have a gender predisposition. Immune hydrops typically presents between 3 months to 5 months of age. The symptoms, features, and clinical findings associated with immune hydrops include severe swelling, enlarged liver, enlarged spleen, enlarged heart thickened placenta, and polyhydramnios. Immune hydrops is associated with still birth, preterm birth, heart failure, and breathing difficulties.

How is Immune Hydrops Diagnosed?

Immune hydrops is diagnosed by radiology, and obstetric physicians.

How is Immune Hydrops Treated?

Immune hydrops is treated by direct transfusion of red blood cells that match the infant’s blood type. An exchange transfusion to rid the baby’s body of the substances that are destroying the red blood cells is also done. The goal is to remove extra fluid from around the lungs and abdominal organs with a needle.

What is the Prognosis of Immune Hydrops?

The prognosis of immune hydrops is poor. Immune hydrops may result in death.

What is Nonimmune Fetal hydrops?

Non-immune fetal hydrops is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. Non-immune fetal hydrops is typically due to fetal anemia, chromosomal anomalies, and cardiovascular defects.

What is the Pathology of Nonimmune Fetal Hydrops?

The pathology of nonimmune fetal hydrops is:

–Etiology: The cause of nonimmune fetal hydrops is a fetal medical condition or birth defect that affects the body’s ability to manage fluid.

–Genes involved: SPTA1 gene mutation

–Pathogenesis: The sequence of events that lead to nonimmune fetal hydrops are anemia induced hyperdynamic circulation, in which high-output cardiac failure causes the blood to circulate rapidly. The excessive pumping of blood causes the left side of the heart to fail, which may result in pulmonary edema. Pulmonary edema (the build up of fluid in the lungs) increases the pressure in the lungs leading to vasoconstriction. The coupled vasoconstriction and pulmonary hypertension causes the right side of the heart to fail which in turn, increases the venous hydrostatic pressure in the body, which leads to peripheral edema and ascites.

–Morphologic changes: The morphologic changes involved with nonimmune fetal hydrops are edematous fluid changes.

How does Nonimmune Fetal Hydrops Present?

Nonimmune fetal hydrops does not have a gender predisposition. Nonimmune fetal hydrops may present at any gestational period. The symptoms, features, and clinical findings associated with nonimmune fetal hydrops include anemia, difficulty breathing, enlarged liver, enlarged spleen, pale skin, and swelling.

How is Nonimmune Fetal Hydrops Diagnosed?

Nonimmune fetal hydrops is diagnosed by ultrasound that shows fluid accumulations involving the baby during gestation. Maternal laboratory tests may be ordered such as blood type, blood screen, antibody screens for TORCHES-CLAP, hemoglobin electrophoresis, maternal anti-SSA/SSB antibodies as well as Kleihauer-Betke and alpha-fetoprotein tests, can also aid in the diagnosis.

How is Nonimmune Fetal Hydrops Treated?

Nonimmune fetal hydrops is treated by thoracoamniotic drainage, antiarrhythmic drugs (digoxin, sotalol, propranolol) and blood transfusion when anemia is present.

What is the Prognosis of Nonimmune Fetal Hydrops?

The prognosis of nonimmune fetal hydrops is poor. Nonimmune fetal hydropshas a high mortality rate. An estimated 50% of babies with hydrops don’t survive until birth. In general, the earlier in the pregnancy the condition occurs, the greater the risk to the fetus.

What are Inborn Errors of Metabolism?

Inborn errors of metabolism are genetic abnormalities that give rise to metabolic disorders. Examples of inborn errors of metabolism include:

• Phenylketonuria (PKU)
• Galactosemia

What is Phenylketonuria?

Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of the enzyme phenylalanine hydroxylase. Without phenylalanine hydroxylase, phenylalanine builds up in the patient, and may cause neurocognitive issues.

What is the Pathology of Phenylketonuria?

The pathology of phenylketonuria is:

–Etiology: The cause of phenylketonuria is caused by a defect in the gene that helps create the enzyme phenylalanine hydroxylase which is needed to break down phenylalanine. Phenylalanine builds up to high levels. Phenylalanine can build up to dangerous levels that cause neurocognitive issues.

–Genes involved: Mutations in the PAH gene

–Pathogenesis: The sequence of events that lead to phenylketonuria are due to phenylalanine that cannot be metabolized by the body. Abnormally high levels of phenylalanine accumulate in the blood, which is toxic to the brain. If left untreated phenylketonuria may result in severe intellectual disability, brain function abnormalities, mood disorders, irregular motor functioning, and behavioral problems.

–Morphologic changes: The morphological changes involved with phenylketonuria are irreversible brain damage and marked intellectual disability beginning within the first few months of life.

How does Phenylketonuria Present?

Patients with phenylketonuria are typically baby males that usually seem healthy at birth. Signs of PKU begin to appear around six months of age. The symptoms, features, and clinical findings associated with phenylketonuria include neurological problems that may include seizures, eczema, microcephaly, delayed development, intellectual disability, and psychiatric disorders.

How is Phenylketonuria Diagnosed?

Phyenlketonuria is diagnosed by a blood test for the presence of the enzyme needed to break down phenylalanine.phenylketonuria is associated with attention deficit hyperactivity disorder, as well as physical symptoms such as a “musty” odor, eczema, and unusually light skin and hair coloration. Neurological problems such as seizures.

How is Phenylketonuria Treated?

Phenylketonuria is treated by diet modification to avoid foods contain phenylalanine.

What is the Prognosis of Phenylketonuria?

The prognosis of phenylketonuria is great if a phenylalanine restricted diet is followed, else it is can be poor. 2 is poor if not treated. If left untreated, PKU can cause brain damage or even death. However, if the condition is detected early and treatment is begun, individuals with phenylketonuria can lead healthy lives.

What is Galactosemia?

Galactosemia is an autosomal recessive disorder of galactose metabolism that results in galactose-1-phosphate accumulation in tissues.

What is the Pathology of Galactosemia?

The pathology of galactosemia is:

–Etiology: The cause of galactosemia is mutations in genes that code for galactase and a deficiency of enzymes. That causes the sugar galactose to build up in the blood. It’s an inherited disorder, and parents can pass it down to their biological children. The parents are considered carriers of this disease.

–Genes involved: Mutations in the GALT, GALK1, and GALE genes

–Pathogenesis: The sequence of events that lead to galactosemia are due to an inability of nursing babies to metabolize galactose which is specific type of sugar that is found in milk. Galactose can not be broken down and digested, resulting in its builds up in the tissues and blood.

–Morphologic changes: The morphologic changes involved with galactosemia are abnormal accumulation of galactose-related chemicals in various organs of the body.

How does Galactosemia Present?

Patients with galactosemia typically are males and females equally. Galactosemia usually presents early in infancy. The symptoms, features, and clinical findings associated with galactosemia include cataracts, liver disease, kidney disease, delayed growth, and intellectual disability. Diarrhea and lethargy may also be early signs of galactosemia.

How is Galactosemia Diagnosed?

Galactosemia is diagnosed by genetic testing. Genetic tests for galactosemia can be performed on chorionic villus sample or amniotic fluid sample. Galactose-1-phosphate uridyltransferase test is a blood test that measures the level of a substance called GALT.

How is Galactosemia Treated?

Galactosemia is treated by a low-galactose diet, however it cannot be cured only managed.

What is the Prognosis of Galactosemia?

The prognosis of galactosemia is good if managed on time. The therapy of galactosemia is the lactose-free and galactose-poor diet for life. As a result of the nationwide newborn screening and the lifelong medical therapy, early treatment with galactosemia can achieve a normal life without serious complications.

What is Cystic Fibrosis?

Cystic fibrosis is an inherited disorder of chloride ion transport that affects fluid secretion in exocrine glands and in epithelial lining of respiratory, gestational, and reproductive tracts. Cystic fibrosis is commonly due to Delta-F508 genetic mutation.

What is the Pathology of Cystic Fibrosis?

The pathology of (cystic fibrosis) is:

–Etiology: The cause of cystic fibrosis is a change, or mutation, in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). This gene controls the flow of salt and fluids in and out of your cells.

–Genes involved: CFTR, delta-F508

–Pathogenesis: The sequence of events that lead to cystic fibrosis are due to defective CFTR proteins that results in defective cellular ion transport. This causes buildup of thick mucus throughout certain organs of the the body, leading to respiratory insufficiency, along with many other systemic obstructions and abnormalities.

–Morphologic changes: The morphologic changes involved with cystic fibrosis are hyperplasia of mucous cells, increased numbers of pulmonary neuroendocrine and indeterminate cells, and degeneration and sloughing of epithelial cells.

How does Cystic Fibrosis Present?

Patients with cystic fibrosis are typically males but females can get it too. It is present mostly from childhood to above 50 years. The symptoms, features, and clinical findings associated with cystic fibrosis include a persistent cough, wheezing, and salty skin.

How is Cystic Fibrosis Diagnosed?

Cystic fibrosis is diagnosed by a sweat chloride test, which measures the amount of chloride in sweat. Cystic fibrosis may also be diagnosed with genetic tests for the delta F508 mutation. Chest X rays may be helpful to assess pulmonary structure.

How is Cystic Fibrosis Treated?

Cystic fibrosis is treated by symptomatic management treatments only including Trikafta, antibiotics to prevent and treat chest infections, medicines to make the mucus in the lungs thinner and easier to cough up.

What is the Prognosis of Cystic Fibrosis?

The prognosis of cystic fibrosis is fair. There is no cure for cystic fibrosis. Lung disease eventually worsens to the point where the person is disabled. The average life span for people with cystic fibrosis who live to adulthood is about 44 years old. Death is most often caused by lung complications.

Sudden Infant Death Syndrome?

Sudden infant death syndrome (SIDS) is sudden death of an infant below 1 year of age, which remains unexplained after a thorough investigation, including death scene analysis, review of medical history, and complete autopsy.

What is the Pathology of Sudden Infant Death Syndrome?

The pathology of sudden infant death syndrome is:

-Etiology: The cause of (sudden infant death syndrome) is Deficiencies in fatty acid metabolism.

-Genes involved: A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene

-Pathogenesis: The sequence of events that lead to sudden infant death syndrome are a persistence of fetal reflex responses into early infancy, during which enhanced inhibitory and depressed excitatory cardiorespiratory reflex responses to local stressors are present, leading to sudden death during sleep in otherwise normal-appearing infants.

-Morphologic changes: The morphologic changes involved with sudden infant death syndrome are abnormalities in the brainstem, a part of the brain that helps control heart rate, breathing, blood pressure, temperature and arousal

How does Sudden Infant Death Syndrome Present?

Patients with sudden infant death syndrome are typically males. Infants are most vulnerable between the second and fourth months of life. There are no real clear symptoms that may be seen before the sudden death event.

How is Sudden Infant Death Syndrome Diagnosed?

There are no tests to assess for sudden infant death syndrome prior to death.

How is Sudden Infant Death Syndrome Treated?

Sudden infant death syndrome has no treatment.

What are Tumors of the Young?

Tumors of the young are tumors that occur in the pediatric population.

Examples of tumors of the young include:

• Hemangiomas
• Fibrous tumors
• Lymphatic tumors
• Teratomas
• Wilms Tumors
• Retinoblastoma
• Hepatoblastoma
• Ewing sarcoma
• Hodgkin lymphoma

What are Common Hemangiomas of the Young?

Hemangiomas are bright red birthmarks that show up at birth or in the first or second week of life. They look like a rubbery bump and are made up of extra blood vessels in the skin. A hemangioma can occur anywhere on the body, but most commonly appears on the face, scalp, chest or back.

What is the Pathology of Hemangiomas?

The pathology of hemangiomas is:

–Etiology: The cause of hemangiomas is an abnormal proliferation of blood vessels in one area of the body and caused by certain proteins produced in the placenta during gestation. 

–Genes involved: Somatic mutations in VEGFR2, VEGFR3 (FLT4; 136352), and DUSP5 (603069) genes.

–Pathogenesis: The sequence of events that lead to hemangiomas are vascular proliferation due to an imbalance of angiogenic factors and an increase in the levels of vascular endothelial growth factor and matrix metalloproteinases.

–Morphologic changes: The morphologic changes involved with hemangiomas are red-purple areas on the skin due to proliferation of vessels like capillaries.

How do Hemangiomas Present?

Patients with hemangiomas are typically females. Infantile hemangiomas usually become noticeable by 4 weeks of age. The symptoms, features, and clinical findings associated with hemangiomas are usually only cosmetic. Hemangiomas appear as small red scratches or bumps. As they grow, they look like burgundy-colored birthmarks. Skin hemangiomas are sometimes called strawberry hemangiomas because of their deep red appearance. Hemangiomas are the most common tumor of the young children.

How are Hemangiomas Diagnosed?

Hemangiomas of the skin are diagnosed by visual inspection, and histopathology to assess for vasculature proliferation. Hemangiomas may also occur in the organs such as the liver, and the diagnosis would utilize radiographic techniques (ultrasound, MRI, CT scan) and potentially a biopsy for definitive diagnosis.

How are Hemangiomas Treated?

Hemangiomas may regress on there own, be surgically removed for cosmetic reasons. Other treatments include beta-blockers, corticosteroid medication, medicated gel, and laser treatment.

What is the Prognosis of Hemangiomas?

The prognosis of hemangiomas is very good. Overtime hemangiomas may resolve on their own.

What are Common Fibrous Tumors of the Young?

Fibromatosis is a common fibrous tumor of the young.

What is the Pathology of Fibromatosis?

The pathology of fibromatosis is:

–Etiology: The cause of fibromatosis remains unclear. In some types of fibromatosis such as desmoid tumours, it is thought that the condition may be related to trauma, hormonal factors, or have a genetic association.

–Genes involved: t(12;12)(p13;q25) ETV6-NTRK3 fusion transcript

–Pathogenesis: The sequence of events that lead to fibromatosis may be due to increased expression of cytokines associated with angiogenesis usually found in wound healing and invasive tumors.

–Morphologic changes: The morphologic changes involved with fibromatosis are benign growth of fibroblastic and myofibroblastic cells.

How does Fibromatosis Present?

Patients with fibromatosis are typically females below 15 years of age. The symptoms, features, and clinical findings associated with fibromatosis depend on the location of the tumor. In the abdomen fibromatosis may press against blood vessels and nerves and cause pain, a limp, or problems using legs, feet, arms, or hands. Fibromatosis can block the gastrointestonal tract or grow into nearby tissues causing severe pain, bleeding from rectum, and other health issues.

How is Fibromatosis Diagnosed?

Fibromatosis is diagnosed by: ultrasound, imaging scans like x-ray, MRI, CT scan, and biopsy of the tumor cells. 

How is Fibromatosis Treated?

Fibromatosis is treated by surgery, nonsteroidal anti-inflammatory drugs with or without hormonal manipulation, chemotherapy, radiation therapy, and other forms of local therapy.

What is the Prognosis of Fibromatosis?

The prognosis of fibromatosis is good but the aggressive fibromatosis can cause life-threatening problems or even death.

What are Common Lymphatic Tumors of the Young?

Lymphangiomas are common lymphatic tumors of the young. Lymphangiomas are also called lymphatic malformations. Lymphangiomas are noncancerous, fluid-filled cysts that occur in lymphatic vessels. These vessels contain a substance called lymph, and together they make up the lymphatic system. Lymph helps to properly regulate fluid in body tissue.

What is the Pathology of Lymphangiomas?

The pathology of lymphangiomas is:

–Etiology: The cause of lymphangiomas is abnormal development of the lymphatic channels. Cystic hygromas (cystic lymphangioma) may occur as part of a genetic syndromes such as Noonan syndrome, Turner syndrome and Down syndrome.

–Genes involved: Somatic mutations of the PIK3CA

–Pathogenesis: The sequence of events that lead to lymphangiomas include failure of the lymphatic system to connect with or separate from the venous system, abnormal budding of the lymphatic system from the cardinal vein, or acquired processes such as traumata, infections, chronic inflammations, and obstructions.

–Morphologic changes: The morphologic changes involved with (lymphangiomas): swelling or mass that occurs mainly in the head, neck, and mouth.

How do Lymphangiomas Present?

Lymphangiomas do not have a gender preference. Lymphangioma can become evident at any age, but the greatest incidence occurs at birth or early in life. The symptoms, features, and clinical findings associated with lymphangiomas are usually only cosmetic. Lymphangiomas may appear as tiny reddish or blue dots. As lymph accumulates, they can create significant and deforming swelling.

How are Lymphangiomas Diagnosed?

Lymphangiomas are diagnosed by physical examinatioin, ultrasound scan, MRI scan, CT scan, and biopsies.

How are Lymphangiomas Treated?

Lymphangiomas are may be treated by surgery, sclerotherapy, laser therapy or radiofrequency ablation  

What is the Prognosis of Lymphangiomas?

The prognosis of lymphangiomas is excellent. Most lymphatic malformations that appear suddenly will decrease in size and pain without treatment, but rarely go away on their own.

What are Teratomas?

Teratomas are rare tumors that may hold different types of tissue such as bone, teeth, muscle, and hair. Teratomas are mostly found in the ovaries, testicles, and sacrum (tailbone), but also sometimes grow in the nervous system and abdomen.‌ A teratoma may be cancerous or benign.

What is the Pathology of Teratomas?

The pathology of teratomas is:

–Etiology: The cause of teratomas is due to abberrent cellular differentiation.

-Genes involved: Unknown.

-Pathogenesis: The sequence of events that lead to teratomas is a pathological transformation of primordial germ cell during cellular development. 

–Morphologic changes: The morphologic changes involved with (teratomas):

How does Teratomas Present?

Patients with teratomas are typically females, but it can happen in males. Teratomas most commonly occur in the tailbone, ovaries, and testicles, but can occur elsewhere in the body. Teratomas can appear in newborns, children, or adults. The symptoms, features, and clinical findings associated with teratomas include: growing masses, swelling, constipation, incontinence and leg weakness.

How are Teratomas Diagnosed?

Teratomas are diagnosed by blood tests that test for elevated levels of the alpha fetoprotein (AFP) and beta human chorionic gonadotrophin hormone (BhCG). Ultrasound imaging can help identify the progress of the teratoma. To check if cancer has spread to other parts of the body, your doctor will request X-rays of your chest and abdomen. Blood tests are also used to check for tumor markers.

How are Teratomas Treated?

Teratomas are treated by surgical removal of tumors or involved organs, performed by a pediatric surgeon, and with chemotherapy if the teratoma is malignant.

What is the Prognosis of Teratomas?

The prognosis of teratomas is not good. Older age at diagnosis, higher stage and grade confer worse prognosis but overall improved after chemotherapy, with approximately 75% survival for stage IV.

What are Common Malignant Tumors of the Young?

Common Malignant Neoplasms of Infancy and Childhood:

0 – 4 Years Old	5-9 Years Old	10 – 14 Years Old
Wilms Tumor	Leukemia/Lymphoma	Hepatocellular Carcinoma
Neuroblastoma	Ewing Sarcoma	Soft Tissue Sarcoma
Leukemia	Soft Tissue Sarcoma	Hodgkin disease
Retinoblastoma	Retinoblastoma	Thyroid Carcinoma
Hepatoblastoma	Neuroblastoma
Soft Tissue Sarcoma	Hepatocellular Carcinoma
Teratomas
CNS Tumors

What is Wilms Tumor?

Wilms tumor is is a type of childhood cancer that starts in the kidneys. It is the most common type of kidney cancer in children. It is also known as nephroblastoma.

What is the Pathology of Wilms Tumor?

The pathology of Wilms tumor is:

–Etiology: The cause of Wilms tumor is alterations of genes responsible for normal genitourinary development.

-Genes involved: Mutations in the WT1 gene, CTNNB1 gene, or AMER1 gene.

–Pathogenesis: The sequence of events that lead to Wilms tumor are malignant growth of primative cells containing metanephric blastema, stromal and epithelial derivatives. Dysfunction is caused when the tumor compresses the normal kidney parenchyma

–Morphologic changes: The morphologic changes involved with Wilms tumor are mixed pattern with blastema, stroma and single epithelial structures. Characteristic features of Wilms tumor are the presence of abortive tubules and glomeruli surrounded by a spindled cell stroma. The stroma may include striated muscle, cartilage, bone, fat tissue, and fibrous tissue.

How does Wilms Tumor Present?

Patients with Wilms tumor are typically females between 2 to 8 years old. The symptoms, features, and clinical findings associated with Wilms tumor include abdominal swelling, abdominal pain, and perhaps an abdominal mass.

How is Wilms Tumor Diagnosed?

Wilms tumor is diagnosed by urinalysis, CT scan, X-rays to check size of tumor. Biopsy can confirm the diagnosis.  

How is Wilms Tumor Treated?

Wilms tumor is treated by surgical removal followed by radiotherapy or chemotherapy.

What is the Prognosis of Wilms Tumor?

The prognosis of Wilms tumor is good. More than 80% of all children diagnosed with Wilms tumor are expected to survive the disease long-term. With a timely diagnosis before the tumor has metastasized to other parts of the body the cure rate is even higher at 90% with standard treatment.

What is Retinoblastoma?

Retinoblastoma is a disease in which malignant cells form in the tissues of the retina.

What is the Pathology of Retinoblastoma?

The pathology of retinoblastoma is:

–Etiology: The cause of retinoblastoma is a genetic mutation.

–Genes involved: RB1 gene

–Pathogenesis: The sequence of events that lead to retinoblastoma involves inactivation of RB1 gene, a tumor suppressor gene. Normally, RB1 gene is necessary for the normal differentiation and growth of retinal stem cells and its mutation results in unregulated growth of these cells and development of the tumor.

–Morphologic changes: The morphologic changes involved with retinoblastoma is leukocoria, a white pupillary reflex.

How does Retinoblastoma Present?

Patients with retinoblastoma are typically infant males. The average age of diagnosis of retinoblastoma is 2. The symptoms, features, and clinical findings associated with retinoblastoma include an unusual white reflection in the pupil, squint, change of iris color, poor vision.

How is Retinoblastoma Diagnosed?

Retinoblastoma is diagnosed by electroretinogram, which measures the electrical activity of the retina, MRI of the eyes, eye sockets, and brain to check any other tumors.

How is Retinoblastoma Treated?

Retinoblastoma is treated by systemic chemotherapy followed by surgery and high-dose chemotherapy with stem cell rescue.

What is the Prognosis of Retinoblastoma?

The prognosis of retinoblastoma is good. Retinoblastoma is almost always curable, especially if it hasn’t spread beyond the eye. Child will have frequent checkups to watch for signs that the cancer has come back.

What is Hepatoblastoma?

Hepatoblastoma is rare tumor that originates in cells in the liver. It is the most common liver tumor in early childhood.

What is the Pathology of Hepatoblastoma?

The pathology of hepatoblastoma is:

–Etiology: The cause of hepatoblastoma is genetic.

–Genes involved: Germline APC gene mutation.

–Pathogenesis: The sequence of events that lead to hepatoblastoma are loss of function mutations in APC which leads to intracellular accumulation of the protooncogene beta-catenin, which leads to germline mutation of Wnt signal transduction and pathway.

–Morphologic changes: The morphologic changes involved with hepatoblastoma are solitary, large, well circumscribed mass with heterogeneous cut surface.

How does Hepatoblastoma Present?

Patients with hepatoblastoma are typically males 1 to 5 years old.  The symptoms, features, and clinical findings associated with hepatoblastoma include jaundice, swollen abdomen, weight loss, large mass in abdomen, and anemia.

How is Hepatoblastoma Diagnosed?

Hepatoblastoma is diagnosed by clinical signs, imaging findings, and elevation of serum α-fetoprotein (AFP) levels. Ultrasound, biopsy, x-rays, CT scan, MRI may be used. Biopsy is needed for definitive diagnosis.

How is Hepatoblastoma Treated?

Hepatoblastoma is treated by chemotherapy, radiotherapy, and surgery.

What is the Prognosis of Hepatoblastoma?

The prognosis of hepatoblastoma is good. Survival rates have reached 80-90 percent. This rate depends upon staging at diagnosis. Patients with fully resected tumors have a greater than 85 percent chance of survival. The rate is about 60 percent for those with metastatic disease that responds to chemotherapy.

What is Ewing Sarcoma?

Ewing sarcoma is a type of tumor that forms in bone or soft tissue and may be found in the bones of the legs, arms, feet, hands, chest, pelvis, spine, or skull.

What is the Pathology of Ewing Sarcoma?

 The pathology of Ewing sarcoma is:

–Etiology: The cause of Ewing sarcoma is: It’s not inherited, but it can be related to non-inherited changes in specific genes during a person’s lifetime. When chromosomes 11 and 22 exchange genetic material, it activates an overgrowth of cells. This may lead to the development of Ewing’s sarcoma.

–Genes involved: Translocation of EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11.

–Pathogenesis: The sequence of events that lead to Ewing sarcoma involves the EWS/FLI protein has the DNA-binding function of the FLI protein as well as the transcription regulation function of the EWS protein. It is thought that the EWS/FLI protein turns the transcription of a variety of genes on and off abnormally. This dysregulation of transcription leads to uncontrolled growth and division and abnormal maturation and survival of cells, causing tumor development.

–Morphologic changes: The morphologic changes involved with Ewing sarcoma are small round blue cells.

How does Ewing Sarcoma Present?

Patients with Ewing sarcoma are typically males between ages of 10 to 20 years old. The symptoms, features, and clinical findings associated with Ewing sarcoma include pain, swelling, fever, weight loss, and potentially paralysis if the tumor is in the spinal region.

How is Ewing Sarcoma Diagnosed?

Ewing sarcoma is diagnosed by CT scan, X-rays, ultrasound, MRI, and biopsy.

How is Ewing Sarcoma Treated?

Ewing sarcoma is treated by surgery, radiotherapy, or chemotherapy

What is the Prognosis of Ewing Sarcoma?

The prognosis of Ewing sarcoma is good. About 70 percent of children with Ewing sarcoma are cured. Teens aged 15 to 19 have a lower survival rate of about 56 percent. For children diagnosed after their disease has spread, the survival rate is less than 30 percent.

What is Hodgkin Disease?

Hodgkin disease is a type of lymphoma.

What is the Pathology of Hodgkin Disease?

The pathology of Hodgkin disease is:

–Etiology: The cause of Hodgkin disease is mutation in the DNA of a type of white blood cell called B lymphocytes.

–Genes involved: Somatically mutated clonal rearranged immunoglobulin genes, p53, CD95/Fas

–Pathogenesis: The sequence of events that lead to Hodgkin disease are: Hodgkin lymphoma starts when an abnormal change to the DNA of a white blood cell called a lymphocyte causes it to become a lymphoma cell that, if untreated, results in the uncontrolled growth of cancerous lymphocytes.

–Morphologic changes: The morphologic changes involved with Hodgkin disease are Reed-Sternberg cells.

How does Hodgkin Disease Present?

Patients with Hodgkin disease are typically males aged 15-35 years old. The symptoms, features, and clinical findings associated with Hodgkin disease include lymph node swelling, fatigue, fever, and night sweats.

How is Hodgkin Disease Diagnosed?

Hodgkin disease is diagnosed by X-ray, CT and positron emission tomography, lymph node biopsy.

How is Hodgkin Disease Treated?

Hodgkin disease is treated by chemotherapy alone, or chemotherapy followed by radiotherapy.

What is the Prognosis of Hodgkin Disease?

The prognosis of Hodgkin disease is good. If Hodgkin disease is found in its earliest stages, the 5-year survival rate is 90%. If Hodgkin disease has spread to different parts of the body, the 5-year survival rate is 80%.