First Aid for the Pediatrics Clerkship, 3 Ed.

Hematologic Disease

 

TABLE 15-1. Normal Hemoglobin and Mean Corpuscular Volume (MCV) by Age

Image

NORMAL HEMOGLOBIN BY AGE

Normal values of hemoglobin and red cell parameters vary with age (see Table 15-1).

ANEMIA

DEFINITION

Reduced circulating red blood cell (RBC) mass.

CLASSIFICATION

Image Size and hemoglobin content (mean corpuscular volume [MCV], mean corpuscular hemoglobin concentration [MCHC]) (see Table 15-2).

Image Mechanism—loss/sequestration, ↑ destruction, ↓ production.

PATHOPHYSIOLOGY

Image Less oxygen transport.

Image ↓ blood volume.

Image ↑ cardiac output.

SIGNS AND SYMPTOMS

Image Somnolence, light-headedness, headache.

Image Angina, dyspnea, palpitations, flow murmur.

Image Fatigue, claudication, edema.

Image Pallor—conjunctiva, palmar creases.

Image Hepatosplenomegaly in some cases.

Image Irritability.

Image Pica: Desire to eat unusual things (eg, clay).

DIAGNOSIS

Image Family history.

Image Exposure history.

Image Past medical history, including medications.

TABLE 15-2. Anemias

Image

Image

Image Physical exam.

Image Complete blood count (CBC): See Table 15.2.

Image Peripheral blood smear: See Table 15-3.

Image Platelet and white blood cell (WBC) size, morphology.

Image Possible bone marrow aspirate/biopsy—cellularity, morphology, stroma.

TABLE 15-3. Some Erythrocyte Morphology and Inclusion Bodies

Image

Image

Image Chemistry—liver function tests (LFTs), lactic dehydrogenase (LDH), creatinine (Cr), uric acid.

Image Imaging as appropriate.

Image Other special tests—serum ferritin, B12, folate, reticulocyte count, Coombs’ test, osmotic fragility, etc.

TREATMENT

Image Supplement or remove causative factor.

Image Support hemodynamics as appropriate.


Image

Coombs test: Direct—detects auto-IgG bound RBCs (autoimmune hemolysis); indirect—detects unbound autoantibodies to RBCs (antenatal, pretransfusion testing).


Physiologic Anemia of Infancy

Image Normal newborns have higher hemoglobin until third week.

Image ↓ to 9–11 g/dL at 8–12 weeks.

Image Decline in hemoglobin level is both more extreme and more rapid in premature infants: 7–9 g/dL by 3–6 weeks.

ETIOLOGY

Image Abrupt cessation of erythropoiesis with the onset of respiration.

Image ↓ survival of fetal RBCs.

Image Expansion of blood volume in first 3 months.

Image No therapy needed.

Image Transient erythroblastopenia of childhood (TEC).

Image The most common acquired red cell aplasia in children.

Image Age 6 months to 3 years (most children > 12 months).


Image

Schilling test:

Radiolabeled B12 used to investigate B12 deficiency



Image

Normal newborn Hgb is 14–20 g/dL.


Transient Erythroblastopenia of Childhood

Image

A previously healthy 1-year-old male infant had a cold 8 weeks ago. He now is pale and irritable and refuses to eat. A CBC shows Hgb 5.0, Hct 10%, MCV 80, reticulocyte count 0%, WBC 9, platelets 400K. Think: Transient erythroblastopenia of childhood (TEC).

TEC occurs in previously healthy children and is often preceded by a viral infection. Classic history is gradual onset of pallor between the ages of 1 and 4 years. Characteristic features include normocytic anemia, severe reticulocytopenia, transient neutropenia, and ↑ platelet counts. It is often confused with Diamond-Black-fan anemia. TEC is a self-limited condition and has an excellent prognosis.

Diamond-Blackfan should be differentiated from transient erythroblastopenia of childhood based on the features listed.

Image Age (average age of diagnosis = 3 months)

Image Macrocytic (↑ MCV)

Image Reticulocytopenia

DEFINITION

Transient failure of the bone marrow to produce RBCs usually at 18–26 months; may occur at < 6 months and up to 10 years.

ETIOLOGY

Possible link to parvovirus B19.

SIGNS AND SYMPTOMS

Gradual pallor and fatigue; appearance better than expected for Hgb level.

DIFFERENTIAL DIAGNOSIS

Image Diamond-Blackfan anemia.

Image Etiology: Genetic.

Image Age: During first year.

Image ↑ MCV.

Image ↑ Red cell adenosine deaminase (ADA).

Image ↑ Hemoglobin F.

Image ↑ i Antigen.

DIAGNOSIS

Image CBC: Hgb 5–7, clinically insignificant neutropenia.

Image Normochromic, normocytic anemia (MCV normal for age).

Image Reticulocyte count initially < 1%, ↑ with recovery (↑ MCV during recovery).

Image Any child with presumed TEC who requires more than one transfusion should be considered for alternate diagnoses.

TREATMENT

Image Supportive until RBC production returns; should occur spontaneously in 30–60 days.

Image If continues, different causes of the anemia must be investigated.

NUTRITIONAL ANEMIAS

Iron Deficiency Anemia

Image

A 9-month-old child who has been fed whole milk from early infancy presents with the following lab values: Hgb 7.5 g, MCV 62, RBC 3.2. Think: Iron deficiency anemia.

Consumption of large amounts of cow’s milk is the most common dietary pattern in children with iron deficiency anemia. Cow’s milk has poor iron bioavailability, especially in infants < 12 months. In the first year, full-term infants need to absorb 1.2 mg of elemental iron. Since only up to 10% of dietary iron is absorbed, daily intake of iron should exceed 12 mg. Characteristic findings are microcytic, hypochromic anemia, low mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), ↑ red cell distribution width (RDW), and ↓ reticulocyte count. Depletion of iron stores is the earliest finding.

ETIOLOGY

Image Inadequate intake (whole cow’s milk has no iron).

Image Loss of iron.

Image Bleeding.

Image Rapid growth spurts (early infancy and adolescence).

Image Prematurity (↓ iron stores).

Image Chronic diseases (juvenile rheumatoid arthritis [JRA], cystic fibrosis [CF]).

EPIDEMIOLOGY

Image Most common anemia in children.

Image Especially 6 months to 3 years old.

Image Rare in infants under 6 months.


Image

Mentzer Index

MCV/RBC

≥ 13 Iron deficiency

≤ 13 Thalassemia trait


SIGNS AND SYMPTOMS

Image Usual symptoms of anemia.

Image Cheilosis/angular stomatitis, glossitis.

Image Koilonychia (spoon nails).

Image Esophageal web.

Image Blue sclera.

Image Splenomegaly.

DIAGNOSIS

Image ↓ serum ferritin (< 10 ng/mL).

Image ↓ serum iron.

Image ↑ iron-binding capacity.

Image Microcytic and hypochromic, ↑ RDW.

Image Low reticulocyte count.

Image ↑ platelet count (> 600,000/mm3).

Image Hypercellular marrow with erythroid hyperplasia.

Image ↓ stainable iron.

TREATMENT

Image Ferrous sulfate 3 mg/kg/day for at least 8 weeks after a normal Hgb level is obtained.

Image Retic response to oral iron within 4 days.


Image

Remember: Ferritin is an acute phase reactant. A normal or high ferritin does not exclude iron deficiency during an acute infection.


Lead Poisoning

Image

A 2½-year-old boy with hyperactivity lives in old apartment building with peeling paint on the walls. His gait has become ataxic and his speech has regressed. His Hgb is 8.5 g. Think: Lead poisoning.

Lead poisoning is usually caused by exposure to dust and paint chips from interior surfaces of homes. The initial signs and symptoms may be nonspecific. Laboratory screening should be considered for children at risk for lead poisoning and should be screened routinely starting at age 1 year. A blood lead level of ≥ 10 μg/dL is considered abnormal. To avoid contamination, a venous sample should be obtained for confirmation. Other features are anemia and basophilic stippling on peripheral smear and elevated free erythrocyte protoporphyrin level.


Image

Chronic lead poisoning interferes with iron utilization and hemoglobin synthesis.


DEFINITION

Variant of iron deficiency anemia.

ETIOLOGY

Image Environmental (aerosolized and oral).

Image Lead-containing paint.


Image

Screening for lead poisoning occurs at 10–14 months and at 2 years of age.


PATHOPHYSIOLOGY

Image Irreversible binding with sulfhydryl group of proteins.

Image Inhibits enzymes involved in heme production.

Image Impairs iron utilization.

SIGNS AND SYMPTOMS

Image Acute encephalopathy.

Image Lead lines—thick transverse radiodense lines in the metaphyses of growing bones on radiographs.

DIAGNOSIS

Image Microcytic hypochromic anemia, basophilic stippling.

Image ↑ serum lead and free erythrocyte protoporphyrin (FEP) level. Lead level < 9 is considered acceptable.

Image ↑ urine coproporphyrin.

TREATMENT

Image Environment control, education, level dependent.

Image 70 μg/dL—medical emergency: Dimercaprol (BAL) followed by ethylenediaminetetraacetic acid (EDTA)—5 days’ treatment.

Image 45–69 μg/dL: Both medical and environmental intervention including chelation (EDTA or DMSA).

Image 20–45 μg/dL: Environmental evaluation + pharmacologic treatment such as EDTA provocative chelation test.

Image 10–19 μg/dL: Education.

Image Prevention: Banning of lead-based paint in 1978.


Image

Lead paint remains the most common cause of lead poisoning.


Folate Deficiency

DEFINITION

Megaloblastic anemia.

ETIOLOGY

Image Deficient intake or absorption.

Image Pregnancy (↑ requirement).

Image Very-low-birth-weight (VLBW) infants.

Image Drugs (phenytoin, methotrexate).

Image Vitamin C deficiency.


Image

Goat’s milk is folate deficient.


EPIDEMIOLOGY

Peak age 4–7 months.


Image

Green vegetables, fruits, liver, and kidneys contain folate.


SIGNS AND SYMPTOMS

Image Features of anemia.

Image Failure to gain weight.

Image Chronic diarrhea.

DIAGNOSIS

Image Macrocytic anemia, thrombocytopenia, neutropenia (hypersegmented PMNs).

Image Low reticulocyte count.

Image ↑ LDH.

Image Bone marrow hypercellular and megaloblastic changes.

Image Serum and RBC folate levels.

TREATMENT

Image Parenteral folic acid only after confirmation.

Image Folic acid is contraindicated in vitamin B12 deficiency, because it will mask anemia, yet B12 deficiency neurologic symptoms will progress.


Image

RBC folate is the best indicator of chronic deficiency.


Vitamin B12 Deficiency

DEFINITION

Megaloblastic anemia.

ETIOLOGY

Image Inadequate intake (strict vegetarians).

Image Pernicious anemia.

Image Surgery of stomach or terminal ileum.

PATHOPHYSIOLOGY

Deficiency of intrinsic factor due to autoimmunity or gastric mucosal atrophy prevents adequate B12 absorption.


Image

Subacute combined systems disease in B12 deficiency—demyelination of dorsal and lateral columns of spinal cord:

Image ↓ vibration sense

Image ↓ proprioception

Image Gait apraxia

Image Spastic paraparesis

Image Paresthesias

Image Incontinence

Image Impotence


SIGNS AND SYMPTOMS

Image Juvenile pernicious anemia.

Image Red, beefy tongue.

Image Premature graying, blue eyes, vitiligo.

Image Myxedema, gastric atrophy.

Image Weakness, irritability, anorexia.

Image Neurologic (ataxia, paresthesias, hyporeflexia, Babinski response, clonus).

DIAGNOSIS

Image Macrocytic anemia, large hypersegmented neutrophils.

Image ↑ LDH.

Image Methylmalonic acid in urine.

Image Anti-intrinsic factor antibody.

Image Schilling test.

TREATMENT

Image Vitamin B12 IM monthly.

Image Oral therapy is contraindicated.

Copper Deficiency

PATHOPHYSIOLOGY

Copper is essential for production of red blood cells, transferrin, and hemoglobin.

SIGNS AND SYMPTOMS

Image Refractory anemia, pancytopenia.

Image Osteoporosis.

Image Ataxia, spasticity.

Image Menke disease in newborns—X linked.

ETIOLOGY

Image Copper-deficient total parenteral nutrition (TPN).

Image Persistent infantile diarrhea.

Image Post gastric bypass surgery.

Image Zinc supplementation (↓ copper absorption).

DIAGNOSIS

Image Hypochromic anemia unresponsive to iron supplementation.

Image Neutropenia.

Image Impaired bone calcification.

Image Serum copper and ceruloplasmin levels.


Image

Dietary copper is found in liver, oysters, meat, fish, whole grains, nuts, and legumes.


TREATMENT

Treat underlying cause.

Anemia of Chronic Disease

ETIOLOGY

Image JRA, systemic lupus erythematosus (SLE), ulcerative colitis.

Image Malignancies.

Image Renal disease.

DIAGNOSIS

Image Can be normochromic and normocytic or hypochromic and microcytic.

Image Hgb ranges 7–10 g/dL.

Image Low serum iron with normal or low total iron-binding capacity (TIBC).

Image Elevated serum ferritin.

TREATMENT

Image Treat underlying cause.

Image Iron if concomitant iron deficiency is present.

HEMOLYTIC ANEMIAS

See Figure 15-1.

SIGNS AND SYMPTOMS

Image Can vary from asymptomatic to generalized symptoms to severe pain crises.

Image Icterus, fever, splenomegaly.

Image ↑ products of RBC destruction.

Image Compensatory ↑ in hematopoiesis-reticulocytosis.

Image See Table 15-4.

DIAGNOSIS

Image ↑ direct bilirubin.

Image ↓ haptoglobin (intravascular especially).

Image ↑ hemoglobinuria/hemosiderinuria (intravascular).

Image ↑ LDH.

Image

FIGURE 15-1. Hemolytic anemias.

TABLE 15-4. Hemolysis

Image

Hemolytic Disease of the Newborn

DEFINITION

Erythroblastosis fetalis.

ETIOLOGY

Maternal sensitization to Rh, ABO, or other blood system antigens (Kell, Duffy).

PATHOPHYSIOLOGY

Image Paternal heterozygosity allows an Rh-positive (or other alloantibody) infant to be carried by an Rh-negative mother.

Image Maternal blood comes into contact with fetal blood cells.

Image Maternal antibodies are produced against the Rh antigen.

Image During a subsequent pregnancy with an Rh-positive infant, maternal antibodies cross the placenta and bind to fetal RBCs, → hemolysis.

Image Destruction of RBCs causes ↑ unconjugated bilirubin, becoming clinically apparent only after delivery as the placenta effectively metabolizes it.

Image Severe anemia → ↑ extramedullary erythropoiesis, with potential replacement of hepatic parenchyma.

EPIDEMIOLOGY

Image Severe Rh disease is rare in the United States nowadays.

Image Rh sensitization occurs in 11 of 10,000 pregnancies.

Image < 1% of births are associated with significant hemolysis.

Image Approximately 50% of affected newborns do not require treatment, 25% are term but die or develop kernicterus, and 25% become hydropic in utero.

SIGNS AND SYMPTOMS

Image Hemolytic anemia.

Image Fetal hydrops:

Image Large placenta.

Image ↑ unconjugated hyperbilirubinemia—rapidly progressive jaundice after birth, kernicterus.

Image Abdominal distention—hepatosplenomegaly, ascites, hepatic dysfunction.

Image Abduction of limbs, loss of flexion.

Image Scalp edema.

Image Purpura.

Image Cyanosis.

DIAGNOSIS

Positive direct Coombs’ test.

TREATMENT

Image Know blood types of both parents early in the pregnancy.

Image Prophylaxis (RhoGam) during and immediately after delivery for mothers at risk for alloimmunization

Image Exchange transfusion to infant of Rh-negative blood.


Image

Mutation causing sickle cell disease: Glu-6-val.


Sickle Cell Disease (SCD)

Image

A 16-month-old African-American boy is brought to the ED because of crying and refuses to stand. He has no fever, vomiting, or diarrhea. His parents denied trauma or fall. On examination, he is afebrile. He cries when his right leg is touched. X-ray of his right leg showed no fracture. Think: Sickle cell disease.

Acute sickle cell painful episode (painful crisis) is the most common presentation in children with SCD. Newborn screening has resulted in detection in early infancy. CBC shows chronic hemolytic anemia with low hematocrit and hemoglobin levels and a reticulocytosis. Peripheral smear may show sickled forms, target cells, and polychromasia suggestive of reticulocytosis.

DEFINITION

Chronic hemolytic anemia due to premature destruction of red cells.

ETIOLOGY

Defect in β-globin–hemoglobin S (HgbS)—substitution of glutamic acid at sixth position of β chain by valine.


Image

As part of a routine genetic screening, a term African-American newborn has Hgb F, A, and S. Possible diagnoses on quantitative testing could be HgbAS trait or HgbS-thalassemia.


PATHOPHYSIOLOGY

Image Unusual solubility problem in the deoxygenated state.

Image HgbS is a low-affinity hemoglobin.

EPIDEMIOLOGY

Image Autosomal recessive.

Image One in 500 African-Americans.

Image Eight percent of African-Americans are carriers.


Image

Four sickle cell crises:

Image Vaso-occlusive crisis

Image Aplastic crisis (parvovirus)

Image Sequestration crisis

Image Hemolytic crisis


SIGNS AND SYMPTOMS

Image Appears after 6 months of age (when HbF is ↓).

Image Anemia (due to hemolysis).

Image Vaso-occlusive: Leg ulcers, stroke, priapism, pain crises.

Image Hand-foot syndrome (swollen hands and feet).

Image Infection (encapsulated organisms):

Image Streptococcus pneumoniae (30%)

Image Haemophilus influenzae

Image Salmonella osteomyelitis

Image Splenomegaly.

Image Cardiac enlargement.

Image Short stature, delayed puberty.

Image Gallstones/jaundice.


Image

The most common cause of fatal sepsis in patients with sickle cell disease is Streptococcus pneumoniae.


DIAGNOSIS

Image Newborn screening.

Image Hgb electrophoresis (definitive test).

Image HgbS 90%.

Image HgbF 2–10%.

Image No HgbA.

Image Hgb ranges 5–9 g/dL.

Image Peripheral smear—target cells and sickled cells.

Image ↑ WBCs and platelets.


Image

There now exists universal newborn screening for sickle cell disease.


TREATMENT

Image Pneumococcal vaccine (at 2 and 5 years).

Image Prophylactic penicillin by 4 months of age.

Image Painful crisis—hydration and analgesics.

Image Priapism—exchange transfusion.

Thalassemia

Image

A 2-year-old boy has required transfusion since early infancy. Think: β-Thalassemia major.

Children with β-thalassemia usually become symptomatic in early infancy because of progressive hemolytic anemia and cardiac decompensation. Severe hypochromia and microcytosis is the characteristic of β-thalassemia. The hemoglobin level declines progressively in the first year and may be as low as 3–4 g/dL, requiring transfusion.

DEFINITION

Hereditary hemolytic anemia.

ETIOLOGY

Total or partial deletions of globin chain.

Image α-Thalassemia (gene deletion):

Image Hgb Bart’s (four-gene deletion).

Image HgbH (three-gene deletion).

Image α-Thalassemia minor (two-gene deletion).

Image Silent carrier (one-gene deletion).

Image β-Thalassemia:

Image Homozygous (β-thalassemia major).

Image Heterozygous (β-thalassemia minor).


Image

β-thalassemia major is fatal without regular transfusion.


SIGNS AND SYMPTOMS

Image Severe hemolytic anemia.

Image Hepatosplenomegaly.

Image Extramedullary hematopoiesis (classic facies—maxillary overgrowth and skull bossing).

DIAGNOSIS

Image Hypochromic, microcytic anemia.

Image Hgb < 5 g/dL.

Image Reticulocytopenia.

Image Markedly ↑ LDH (ineffective erythropoiesis).

Image Hgb electrophoresis:

Image HgbA: ↓ or absent

Image ↑ HgbA2

Image HgbF: Marked elevation

TREATMENT

Image Monthly transfusion of packed RBCs to maintain Hgb > 10 g/dL.

Image Splenectomy if requiring > 240 mL/kg of packed RBCs/year.


Image

Hemosiderosis:

Image Cardiomyopathy

Image Cirrhosis

Image Diabetes


HEMOLYTIC ENZYMOPATHIES

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

Image

A previously well 2-year-old African-American male child is treated with sulfonamide. Two days later, he develops fever, back pain, dark urine, and anemia. Blood smear shows fragmented erythrocytes. Think: G6PD deficiency.

The highest prevalence of G6PD deficiency is in Africans and people of Mediterranean descent. It is a recessive X-linked trait; therefore, males are at higher risk. Episodic hemolysis is the characteristic of G6PD deficiency. It is caused by exposures that cause oxidant stress such as infection or drugs. Sulfonamides and antimalarial drugs (primaquine and chloroquine) are the common agents.

Image

A male child has sudden onset of dark urine, pallor, and jaundice after an exposure to an oxidant stress. Think: G6PD deficiency.

Most patients are asymptomatic unless exposed to an oxidant stress that results in a hemolytic crisis. Jaundice and splenomegaly may be present during an acute crisis. Heinz bodies, indicative of denatured hemoglobin, are typically present and can be detected by a methyl violet stain. G6PD levels can be deceptively normal during an acute crisis because of an elevated reticulocyte count. Therefore, G6PD levels should be obtained weeks to months later to obtain an actual baseline measurement.

DEFINITION

Image Enzyme defect of hexose monophosphate (HMP) pathway, resulting in hemolysis when exposed to stresses such as infection or certain drugs.

Image Develops 24–48 hours after the exposure of an oxidizing agent.

ETIOLOGY

Hereditary ↓ of G6PD that normally maintains adequate level of glutathione in a reduced state in RBCs.


Image

Parents of a child with G6PD deficiency should be provided a list of drugs and foods to avoid.


PATHOPHYSIOLOGY

Image Oxidized glutathione complexes with Hgb, forming Heinz bodies.

Image RBC less deformable.

Image Splenic macrophages “bite out” RBCs.

EPIDEMIOLOGY

Image Most common hemolytic enzymopathy.

Image X-linked.

Image Higher incidence in African-American, Middle Eastern, and Mediterranean populations.

SIGNS AND SYMPTOMS

Image Episodic intravascular hemolysis secondary to oxidant stress (drugs, fava beans, etc.).

Image Spontaneous chronic nonspherocytic hemolytic anemia.

Image Jaundice, dark urine.

Image Splenomegaly.


Image

Suspect G6PD deficiency when G6PD activity is within low normal range in the presence of high reticulocyte count.


DIAGNOSIS

Image Reduced G6PD activity in RBCs.

Image Anemia, Heinz bodies, and bite cells on peripheral smear.

Image Reticulocytosis.

Image Elevated serum bilirubin and LDH.

Image ↓ serum haptoglobin.

Image Hemoglobinuria.

TREATMENT

Image Removal of oxidant stressor.

Image Oxygen.

Image Transfusion of packed RBC for Hgb < 6, hemodynamic instability, ongoing hemolysis.


Image

G6PD deficiency protects against parasitism of erythrocytes (such as malaria).


Pyruvate Kinase (PK) Deficiency

DEFINITION

Congenital hemolytic anemia (↓ RBC PK).

PATHOPHYSIOLOGY

Pyruvate kinase catalyzes the final step in the glycolytic pathway.


Image

Drugs causing hemolysis in G6PD deficiency:

Image Aspirin

Image Sulfonamides

Image Ciprofloxacin

Image Antimalarials


EPIDEMIOLOGY

Image Second most common hemolytic enzymopathy.

Image Autosomal recessive.

SIGNS AND SYMPTOMS

Image Chronic hemolytic anemia.

Image Hyperbilirubinemia/failure to thrive (FTT) in newborn.

Image ↓ reticulocytes (selective destruction).


Image

Ingestion of fava beans can cause hemolysis in patients with G6PD deficiency (“favism”).


DIAGNOSIS

↓ RBC PK activity.

TREATMENT

Image Avoid oxidant stresses.

Image Exchange transfusion (hyperbilirubinemia).

Image Transfusion of packed RBCs if severe anemia or aplastic crisis.

Image Splenectomy (after 5–6 years of age), if persistently severe anemia or frequent transfusion requirement, will ↑ reticulocyte count.

Image Folate supplementation.

HEMOLYTIC MEMBRANE DEFECTS

Hereditary Spherocytosis

Image

A 4-year-old boy has pallor and a family history of gallstone surgery. His Hgb is 8 g, retics 11, bili 2. Think: Hereditary spherocytosis.

Hereditary spherocytosis is a common inherited hemolytic anemia that is transmitted as an autosomal dominant. The characteristic feature is spherocytic red cells that are intrinsically defective. Hemolysis results in reticulocytosis and indirect hyperbilirubinemia. Splenomegaly and gallstones are common. Spherocytes are present in the peripheral blood smear. Splenectomy is helpful in reducing the rate of hemolysis.

DEFINITION

Red cell membrane defect → abnormally shaped erythrocytes and hemolysis.

ETIOLOGY

Genetic defect in erythrocyte membrane proteins, such as ankyrin.

PATHOPHYSIOLOGY

Image Abnormal proteins cause destabilized RBC membrane—spherocytes.

Image Abnormal RBCs become sequestered in the spleen and hemolyze.

EPIDEMIOLOGY

Autosomal dominant.

SIGNS AND SYMPTOMS

Image Commonly asymptomatic.

Image Evidence of hemolysis.

Image Aplastic/hemolytic crisis.

Image Splenomegaly.

Image Gallstones.

Image Leg ulcers.

Image Positive family history.

DIAGNOSIS

Image ↑ osmotic fragility.

Image Spherocytes on peripheral film.

Image Reticulocytosis.

Image Hyperbilirubinemia.


Image

Hereditary spherocytosis has the following characteristics: ↑ osmotic fragility, ↑ reticulocyte count, positive family history, and splenomegaly. Coombs’ test is not positive.


TREATMENT

Image Splenectomy (avoid or at least delay until > 5 years old).

Image Pneumococcal, meningococcal, and Haemophilus influenzae (Hib) vaccines before splenectomy.

Image Treatment does not fix underlying RBC defect.

Paroxysmal Nocturnal Hemoglobinuria

DEFINITION

Image Complement-induced hemolytic anemia caused by acquired defect in RBC membrane.

Image Red urine (intravascular hemolysis worse with relative hypoxia at night vs. more concentrated urine at night).

Image Thrombosis.

SIGNS AND SYMPTOMS

Image Hemolysis worse during sleep → morning hemoglobinuria.

Image Marrow failure.

Image Intermittent or chronic hemolytic anemia.

Image Leukopenia, thrombocytopenia.

Image Complications can include thromboembolic phenomenon and acute myelogenous leukemia.


Image

Splenectomy predisposes patients to overwhelming postsplenectomy infections (OPSIs) caused by encapsulated organisms:

Image Streptococcus pneumoniae

Image Neisseria meningitidis

Image Haemophilus influenzae


DIAGNOSIS

Image ↑ LDG, ↓ haptoglobin, direct Coombs’ is negative since hemolysis is not antibody directed.

Image Sucrose lysis test, Ham’s acid hemolysis test.

Image Flow cytometry.

TREATMENT

Image Prednisone.

Image Bone marrow transplantation for severe disease.

Image Splenectomy is not indicated.

Image Eculizumab (humanized antibody which inhibits the activation of terminal complement components).

Image Iron supplementation unless frequently transfused.

Image Folic acid supplementation.


Image

Onset of paroxysmal nocturnal hemoglobinuria is in late childhood.


APLASTIC ANEMIA

DEFINITION

Rare group of closely related disorders → ↓ numbers of blood cells in each of the lines—RBCs, WBCs, and platelets.

ETIOLOGY

Image Exact cause is unknown.

Image Chemical exposure.

Image Viral infection.

Image Genetic causes (eg, Fanconi’s anemia).

SIGNS AND SYMPTOMS

Image Fatigue (fewer RBCs).

Image Infections (fewer WBCs).

Image Bleeding (fewer platelets).

Image ↑ risk of leukemia.

DIAGNOSIS

Image CBC—suspicious if at least two of the three cell lines are ↓.

Image Bone marrow biopsy is definitive.

TREATMENT

Image Platelet and RBC transfusions.

Image Immunosuppressive drugs—antilymphocyte globulin (ALG), antithymocyte globulin (ATG), cyclosporine.

Image Growth factors—erythropoietin (EPO), granulocyte colony-stimulating factor (G-CSF), granulocyte macrophage colony stimulating factor (GM-CSF).

Image Stem cell transplantation is definitive cure but requires chemotherapy and/or radiation in preparation.

THROMBOTIC THROMBOCYTOPENIC PURPURA (TTP)

DEFINITION

Hemolytic anemia that results from deposition of abnormal VWF multimers into microvasculature.


Image

Diagnostic pentad for TTP:

FAT RN

Fever

Anemia

Thrombocytopenia

Renal dysfunction

Neurologic abnormality


SIGNS AND SYMPTOMS

Image Fever.

Image Microangiopathic hemolytic anemia.

Image Thrombocytopenia.

Image Abnormal renal function.

Image Neurologic signs.

DIAGNOSIS

Image Normal prothrombin time (PT) and activated partial thromboplastin time (aPTT).

Image Microangiopathic hemolytic anemia.

Image Abnormal red cell morphology with schistocytes, spherocytes, helmet cells.

Image ↑ reticulocyte count.

Image Thrombocytopenia.

TREATMENT

Image Plasmapheresis

Image Corticosteroids

Image Splenectomy

HEMOLYTIC-UREMIC SYNDROME (HUS)

Image

Ten days after an episode of viral diarrhea, a 2-year-old boy has pallor and icterus and petechiae of the skin and mucous membranes. His mother reports that he has not urinated for 24 hours. Characteristic lab findings include fragmented erythrocytes on smear, ↑ blood urea nitrogen (BUN), ↑ reticulocyte count, indirect hyperbilirubinemia, and normal platelet count. Think: HUS.

HUS is a common cause of renal failure in children. Triad: microangiopathic hemolytic anemia, thrombocytopenia, and uremia. Onset is usually preceded by gastroenteritis. It may be epidemic during summer months. Platelet count is usually low, but may be normal early in the course of illness.

ETIOLOGY

Acute gastroenteritis caused by Escherichia coli O157:H7 (produces a shiga-like toxin).

SIGNS AND SYMPTOMS

Image Hemolytic anemia

Image Thrombocytopenia

Image Acute renal failure (ARF)

DIAGNOSIS

Image History of bloody diarrhea.

Image Abnormal red cell morphology.

Image Thrombocytopenia with normal megakaryocytes in marrow.

Image Urine—protein, RBCs, and casts.

TREATMENT

Image Fluid management.

Image Dialysis.

Image Plasmapheresis (for neurologic complications).

Image Antibiotics not indicated.

Immune Thrombocytopenic Purpura (ITP)

Image

A 4-year-old previously healthy girl with purple skin lesions had a visit to the ED with an upper respiratory infection (URI) a month ago. CBC is normal except for low platelets. Think: ITP.

Typical presentation: Sudden onset of generalized petechiae and purpura in a previously healthy child. Often, there is a history of a viral infection weeks before the onset. Physical examination is usually normal except petechiae and purpura. Complete remission occurs in most children.


Image

ITP is the most common thrombocytopenia of childhood.


DEFINITION

Image Acquired hemorrhagic disorder that results from excessive destruction of platelets—typically benign.

Image Acute (remission within 6 months).

Image Chronic (> 6 months).

Image Also called autoimmune thrombocytopenic purpura.

ETIOLOGY

Image Unknown.

Image Associated with antecedent viral illnesses (varicella, rubella, mumps, infectious mononucleosis) in 50–65% of cases.


Image

Purpuric lesions do not blanch.


PATHOPHYSIOLOGY

Image Immune mechanism—autoantibodies.

Image Sensitization.


Image

Primary ITP is a diagnosis of exclusion.


DIAGNOSIS

Image Diagnosis of exclusion.

Image WBC and Hgb levels normal.

Image Normal peripheral smear except thrombocytopenia.

Image Bone marrow (not always indicated).

Image Normal erythrocytic and granulocytic series.

Image Normal or ↑ megakaryocytes.


Image

Don’t give prednisone in ITP without a marrow examination.


TREATMENT

Image Treatment based on severity of bleeding.

Image Admit if platelet count is < 20.

Image > 80% recover within several months without treatment.

Image Intravenous immune globulin (IVIG) or anti-Rho antibodies.

Image Intravenous methylprednisolone.

Image Splenectomy.

Image Older children (> 4 years).

Image Severe ITP.

Image Chronic ITP (> 1 year).

Image Platelet transfusion generally not helpful.

DISSEMINATED INTRAVASCULAR COAGULATION (DIC)

DEFINITION

↑ fibrinogenesis and fibrinolysis.

ETIOLOGY

Image Sepsis.

Image Incompatible transfusion.

Image Rickettsial infection.

Image Snake bite.

Image Acute promyelocytic leukemia.

PATHOPHYSIOLOGY

Image Hypoxia

Image Acidosis

Image Tissue necrosis

Image Shock

Image Endothelial damage


Image

DIC is frequently associated with purpura fulminans and acute promyelocytic leukemia.


SIGNS AND SYMPTOMS

Image Bleeding

Image Petechiae and ecchymoses

Image Hemolysis

DIAGNOSIS

Image ↑ PT and aPTT.

Image ↓ fibrinogen and platelets.

Image ↑ fibrin degradation products and D-dimer.

TREATMENT

Image Treat underlying cause.

Image Replacement therapy:

Image Platelets (thrombocytopenia).

Image Cryoprecipitate (hypofibrinogenemia).

Image Fresh frozen plasma (FFP) (replacement of coagulation factors).

Image Heparin prevents consumption of coagulation factors.

COAGULATION DISORDERS

Image Bleeding due to platelet problems usually occurs immediately and is mucocutaneous.

Image Bleeding due to factor deficiencies is often “deeper” bleeding (intraarticular, intramuscular).

Image See Table 15-5.

von Willebrand Disease

Image

A child presents with epistaxis, prolonged bleeding time, and a normal platelet count. Think: von Willebrand disease.

von Willebrand disease is the most common inherited bleeding disorder. A family history of an established bleeding disorder should be sought. Typical presentation: Mucocutaneous bleeding (excessive bruising, epistaxis, and menorrhagia). The evaluation involves qualitative and quantitative measurements of von Willebrand factor (vWF).

DEFINITION

Most common hereditary bleeding disorder, seen in up to 1% of population, resulting from deficiency of vWF (qualitative or quantitative).

TABLE 15-5. Coagulation Tests

Image

Image

ETIOLOGY

Image Autosomal dominant—chromosome 12.

Image Deficiency of factor VIII-R.

PATHOPHYSIOLOGY

Defective platelet function due to ↓ in level or function of von Willebrand cofactor.

SIGNS AND SYMPTOMS

Image Easy bruising.

Image Heavy or prolonged menstruation.

Image Frequent or prolonged epistaxis.

Image Prolonged bleeding after injury, surgery (circumcision), or invasive dental procedures.

DIAGNOSIS

Image ↑ aPTT and bleeding time.

Image Abnormal factor VIII clotting activity.

Image Quantitative assay for vWF antigen.

Image Reduced ristocetin cofactor activity.

Image Abnormal platelet aggregation tests.

Image Normal platelet count.

TREATMENT

Image Usually no therapy necessary.

Image Avoid unnecessary trauma.

Image Desmopressin (DDAVP), factor VIII for surgery if needed.

Image Cryoprecipitate recommended only in life-threatening emergencies due to the risk of human immunodeficiency virus (HIV) and hepatitis infection.


Image

Avoid aspirin and nonsteroidal anti-inflammatory drug (NSAID) use in patients with von Willebrand disease.


FACTOR VIII REPLACEMENT

Image

Hemophilia

DEFINITION

Image Inherited coagulation defects.

Image Hemophilia A: Factor VIII deficiency.

Image Hemophilia B: Factor IX deficiency.


Image

Patients with hemophilia may lose large amounts of blood into an iliopsoas hematoma.


PATHOPHYSIOLOGY

Slowed rate of clot formation.

SIGNS AND SYMPTOMS

Image Easy bruising.

Image Intramuscular hematomas.

Image Hemarthroses (ankles, then knees and elbows) → joint destruction if untreated.

Image Spontaneous hemorrhaging if levels < 5%.

DIAGNOSIS

Image Family history.

Image aPTT 2–3 times upper limit of normal.

Image Specific factor assays.


Image

Only 30% of male infants with hemophilia bleed at circumcision.


TREATMENT

Image Early diagnosis.

Image Prevent trauma.

Image Recombinant factors.

Image Cryoprecipitate.

Image Beware of transfusion complications, including disease transmission.


Image

Image 1 unit of VIII/kg—↑2%

Image 1 unit of IX/kg—↑1%


HYPERCOAGULABLE STATES

DEFINITION

Predisposition to thrombosis.

PATHOPHYSIOLOGY

Primary (inherited) or secondary (acquired) disturbances in the three areas of Virchow’s triad:

Image Endothelial damage (eg, inflammation, trauma, burns, infection, surgery, central lines, artificial heart valves).

Image Change in blood flow (eg, immobilization, local pressure, congestive heart failure [CHF], hypovolemia, hyperviscosity, pregnancy).

Image Hypercoagulability (eg, factor release secondary to surgery, trauma, malignancy); antiphospholipid antibodies, lupus, oral contraceptive use; genetic predispositions such as deficiencies of protein S, protein C, antithrombin III, or factor V Leiden; nephrotic syndrome, polycythemia vera, sickle cell anemia, homocystinemia, fibrinogenemia.

SIGNS AND SYMPTOMS

Image Deep vein thrombosis (DVT)

Image Pulmonary embolism (PE)

Image Myocardial infarction (MI)

Image Stroke

Image Recurrent pregnancy loss

DIAGNOSIS

Image Family history.

Image Patient history of recurrent, early, unusual, or idiopathic thromboses.

Image Appropriate screening.

Image Risk factor assessment.

TREATMENT

Image Reduce risk factors—mobilize patients, encourage to quit smoking and alcohol, hydrate.

Image Aspirin, heparin, warfarin, etc., as appropriate.

MALARIA

Image

An 8-year-old American-born boy of Somali parents presents with fever for 1 week after returning from his vacation. On examination he has splenomegaly. Think: Malaria.

Malaria should be considered in any child who presents with fever and has traveled or resided in a malaria-endemic area. It is characterized by fever, chills, sweats, fatigue, anemia, and splenomegaly. The diagnosis is established by identification of organisms on peripheral smear.

DEFINITION

Blood-borne parasite infection.

ETIOLOGY

Image Transmitted by female Anopheles mosquito.

Image Four species of Plasmodium:

Image P falciparum

Image P malariae

Image P ovale

Image P vivax


Image

HgbS confers resistance against Plasmodium falciparum.


EPIDEMIOLOGY

Most frequent cause of hemolysis worldwide.

SIGNS AND SYMPTOMS

Image Fever

Image Chills

Image Jaundice

Image Splenomegaly

Image Sweats

DIAGNOSIS

Image Traditional method: Identification of organisms on thick and thin peripheral blood smears obtained when patient is acutely febrile.

Image Newer methods include polymerase chain reaction (PCR) and immunoassays.

TREATMENT

Image See CDC Web site for specific guidelines—usually dependent on resistance in geographic location.

Image Chloroquine is used for P ovale, P vivax, P malariae, and chloroquine-sensitive P falciparum.

Image Significant areas of chloroquine-resistant P falciparum exist. In these places, mefloquine or atovaquone-proguanil should be used.

TRANSFUSION REACTIONS

EPIDEMIOLOGY

Image Approximately 4% of transfusions are associated with some form of adverse reaction.

Image Most are febrile nonhemolytic or urticarial.

Image See Table 15-6.

INDICATIONS FOR TRANSFUSION OF BLOOD PRODUCTS

Image Packed RBCs: Hgb < 8 or 8–10 if symptomatic.

Image Platelets: < 10,000/μL; 10,000–50,000 if bleeding; < 75,000 in preparation for surgery.

Image FFP: Treatment of bleeding from vitamin K deficiency, ↑ International Normalized Ratio (INR), liver disease, or during plasma exchange for TTP.

TABLE 15-6. Transfusion Reactions

Image

Image

Image

Image Cryoprecipitate: Hypofibrinogenemia, hemophilia A, vWF deficiency, factor XIII deficiency.


Image

Children rarely have febrile reactions to initial transfusion unless they are immunoglobulin A (IgA) deficient.


COMPLICATIONS

Image Hemolytic, febrile, and allergic reactions.

Image Transfusion-related acute lung injury (TRALI).

Image Disease transmission (eg, HIV, hepatitis B virus [HBV], hepatitis C virus [HCV], human T-lymphotropic virus [HTLV], cytomegalovirus [CMV], parvovirus).

Image Iron overload, electrolyte disturbances.

Image Fluid overload, hypothermia.

METHEMOGLOBINEMIA

ETIOLOGY

Image Inherited:

Image Deficiency of cytochrome b5 reductase.

Image Hgb M disease—inability to convert methemoglobin back to hemoglobin.

Image Acquired—↑ production of methemoglobin: Nitrites (contaminated water), xylocaine/benzocaine (teething gel), sulfonamides, benzene, aniline dyes, potassium chlorate.


Image

Life-threatening transfusion reactions are nearly always due to clerical errors (wrong ABO blood type).


PATHOPHYSIOLOGY

Image Hgb iron in ferrous form.

Image Methemoglobin iron is in ferric form (< 2%) and is unable to transport oxygen.


Image

Suspect methemoglobinemia if:

Image Oxygen-unresponsive cyanosis

Image Chocolate brown blood


SIGNS AND SYMPTOMS

Depends on the concentration:

Image 10–30%: Cyanosis.

Image 30–50%: Dyspnea, tachycardia, dizziness.

Image 50–70%: Lethargy, stupor.

Image > 70%: Death.

DIAGNOSIS

Methemoglobin level—co-oximetry studies.

TREATMENT

Image Concentration dependent.

Image < 30%: Treatment not needed.

Image 30–70%: IV methylene blue.

Image Hyperbaric O2.

Image Oral ascorbic acid (200–500 mg).

PORPHYRIA

DEFINITION AND ETIOLOGY

Porphyria refers to a group of disorders (inherited and acquired) characterized by an inherited deficiency of the heme biosynthetic pathway.

SIGNS AND SYMPTOMS

Image Acute (hepatic) porphyria: Abdominal pain, vomiting, neuropathy, mental disturbances, seizures, autonomic nervous system dysfunction, cardiac arrythmias, tachycardia; ↑ risk of hepatocellular carcinoma over lifetime.

Image Cutaneous (erythropoietic) porphyria: Edema, blister formation, ↑ hair growth, photosensitivity, red urine.

Image Precipitated by drugs, infection.

DIAGNOSIS

Image Spectroscopy: Blood, urine, stool.

Image Hyponatremia/syndrome of inappropriate antidiuretic hormone secretion (SIADH).

Image Renal insufficiency.

Image Serum/urine porphyrin levels.

TREATMENT

Image For acute attacks: Analgesia, hydration, maintain electrolytes, IV hematin especially if low serum sodium or status epilepticus, high-carbohydrate diet, glucose 10% infusion.

Image Long-term management:

Image Avoid alcohol and all drugs that can precipitate an attack.

Image Sunscreen.

DISORDERS OF WHITE BLOOD CELLS

Neutropenia

DEFINITION

Absolute neutrophil count (ANC) < 1500/mm3:

Image Mild: 1000–1500

Image Moderate: 500–1000

Image Severe: < 500


Image

ANC = Total WBC × (Segs + Bands).


ETIOLOGY

Image Congenital.

Image Kostmann syndrome.

Image Schwachman syndrome.

Image Fanconi syndrome.

Image Acquired.

Image Infection.

Image Immune.

Image Hypersplenism.

Image Drugs.

Image Aplastic anemia.

Image Vitamin B12, folate, or copper deficiency.

SIGNS AND SYMPTOMS

Image ↑ susceptibility to bacterial infection.

Image Stomatitis, gingivitis, recurrent otitis media, cellulitis, pneumonia, and septicemia.

LEUKEMIA

Image

A 3-year-old girl has had fever, anorexia, and fatigue for the past month. She has lost 5 kg. She has pallor, cervical adenopathy, splenomegaly, skin ecchymoses, and petechiae. Think: Acute leukemia.

Typical presentation: Pancytopenia—anemia (pallor and fatigue), thrombocytopenia (epistaxis, ecchymoses, and petechiae) and white cell may be low (sepsis) or high. Initial presentation may be nonspecific and subtle and develop over weeks to months. Final diagnosis depends on the results of bone marrow aspirate and biopsy.

EPIDEMIOLOGY

Leukemia is the most common malignancy, followed by brain tumors.

RISK FACTORS

Image Trisomy 21

Image Fanconi’s anemia

Image Bloom syndrome

Image Immune deficiency

Image Wiskott-Aldrich syndrome

Image Agammaglobulinemia

Image Ataxia–telangiectasia

SIGNS AND SYMPTOMS

Image Fever

Image Pallor

Image Bleeding

Image Bone pain

Image Abdominal pain

Image Lymphadenopathy

Image Hepatosplenomegaly

Acute Lymphoblastic Leukemia (ALL)

DEFINITION

Malignant disorder of lymphoblasts.

EPIDEMIOLOGY

Image Most common malignancy in children.

Image Eighty percent of leukemia in children.

SIGNS AND SYMPTOMS

Image Fatigue, anorexia, lethargy, pallor.

Image Bone pain.

Image Fever.

Image Bleeding, bruising, petechiae.

Image Lymphadenopathy.

Image Hepatosplenomegaly.

Image Bone tenderness.

Image Testicular swelling.

Image Septicemia.

DIAGNOSIS

Image CBC: Anemia, abnormal white count, low platelet count.

Image Electrolytes, calcium, phosphorus, uric acid, lactic dehydrogenase (LDH).

Image Chest x-ray (mediastinal mass).

Image Bone marrow—hypercellular, ↑ lymphoblasts.

Image Cerebrospinal fluid (CSF)—blasts.


Image

Marrow exam is essential to confirm the diagnosis of ALL.


TREATMENT

Image Four phases:

Image Remission induction: Cytoxan, vincristine, prednisone, L-asparaginase, and/or doxorubicin.

Image Consolidation: May add 6MP, 6TG, or cytosine arabinoside.

Image Maintenance therapy: 2 years—methotrexate and 6MP, may add vincristine and prednisone.

Image CNS prophylaxis: Methotrexate to CSF, may have radiation to the head.

Image Infection prevention—antibiotics, isolation if necessary

Acute Myelogenous Leukemia (AML)

DEFINITION

Malignant proliferation of immature granular leukocytes.

EPIDEMIOLOGY

Image Fifteen to twenty percent of leukemia cases.

Image Occurs primarily in children < 1 year old.

Image One in 10,000 people.

ETIOLOGY

Predisposing factors:

Image Trisomy 21

Image Diamond–Blackfan syndrome

Image Fanconi’s anemia

Image Bloom syndrome

Image Kostmann syndrome

Image Toxins such as benzene

Image Immunosuppression

Image Polycythemia vera

SIGNS AND SYMPTOMS

Image Manifestations of anemia, thrombocytopenia, or neutropenia, including fatigue, bleeding, and infection.

Image Chloroma—localized mass of leukemic cells.

Image Bone/joint pain.

Image Hepatosplenomegaly.

Image Lymphadenopathy.

DIAGNOSIS

Image > 25% myeloblasts in the bone marrow, hypercellular.

Image Abnormal white count, platelet count, and anemia.

Image Bone destruction and periosteal elevation on x-ray.

TREATMENT

Image Two phases:

Image Remission induction: 1 week—anthracycline (daunorubicin) and cytosine arabinoside (cytarabine).

Image Postremission therapy: Several more courses of high-dose cytarabine chemotherapy, allogenic stem cell transplant, or autologous stem cell transplant.

Image Infection prevention—isolation, antibiotics.

Image RBC transfusions for anemia.

Image Platelet transfusions for bleeding.

Image Complete remission in 70–80%.

Chronic Myelogenous Leukemia (CML)

DEFINITION

Clonal disorder of the hematopoietic stem cell with Philadelphia chromosome translocation—t(9;22)(q34;q11).

EPIDEMIOLOGY

Tends to occur in middle-aged people.


Image

CML often gets diagnosed when CBC shows elevated WBCs.


SIGNS AND SYMPTOMS

Image Insidious onset.

Image Splenomegaly (massive).

Image Fever, bone pain, sweating.

TREATMENT

Image Hydroxyurea

Image α-Interferon

Image Bone marrow transplant

Image Radiation

Juvenile Chronic Myelogenous Leukemia (JCML)

DEFINITION

Image Clonal condition involving pluripotent stem cell.

Image < 2 years.


Image

Neurofibromatosis is associated with an ↑ incidence of JCML and leukemia.


EPIDEMIOLOGY

Ninety-five percent diagnosed before age 4.

SIGNS AND SYMPTOMS

Image Skin lesions (eczema, xanthoma, café au lait spots).

Image Lymphadenopathy.

Image Hepatosplenomegaly.

DIAGNOSIS

Image Monocytosis.

Image ↑ marrow monocyte precursors.

Image Philadelphia chromosome absent.

Image Blast count.

Image < 5% (peripheral blood).

Image < 30% (marrow).

TREATMENT

Image Complete remissions have occurred with stem cell transplant.

Image Majority relapse, with overall survival of 25%.

Congenital Leukemia

DEFINITION

Serious neonatal malignancy.

EPIDEMIOLOGY

Image Rare.

Image AML more common, unlike the predominance of ALL in later childhood.

Lymphoma

DEFINITION

Image Lymphoid malignancy arising in a single lymph node or lymphoid region (liver, spleen, bone marrow).

Image Hodgkin’s.

Image Nodular sclerosing (46%—most common).

Image Mixed cellularity (31%).

Image Lymphocyte predominance (16%).

Image Lymphocyte depletion (7%).

Image Non-Hodgkin’s (10% of all pediatric tumors).

Image Lymphoblastic.

Image Burkitt’s (39%).

Image Large cell or histiocytic.


Image

Reed-Sternberg cells are characteristic of Hodgkin’s lymphoma.


SIGNS AND SYMPTOMS

Image Fever, night sweats.

Image Weight loss, loss of appetite.

Image Cough, dysphagia, dyspnea.

Image Lymphadenopathy—lower cervical, supraclavicular.

Image Hepatosplenomegaly.


Image

Suspicious lymph nodes are:

Image Painless, firm, and rubbery

Image In the posterior triangle


DIAGNOSIS

Image CBC, erythrocyte sedimentation rate (ESR).

Image Serum electrolytes, uric acid, LDH.

Image Chest x-ray.

Image Computed tomography (CT) of chest, abdomen, and pelvis.

Image Lymph node or bone marrow biopsy.

STAGING

Image Stage I: One lymph node involved.

Image Stage II: Two lymph nodes on same side of diaphragm.

Image Stage III: Lymph node involvement on both sides of diaphragm.

Image Stage IV: Bone marrow or liver involvement.

TREATMENT

Image Radiation for stage I or II disease.

Image Chemotherapy for stage III or IV.

Image



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