HEMATOLOGY / ONCOLOGY Flashcards
Low hemoglobin, low mean corpuscular volume
(MCV), low iron, low transferrin saturation, low
ferritin, high red cell distribution width (RDW),
Mentzer index (MCV/RBCs) > 13 and high total
iron-binding capacity (TIBC)
Iron deficiency anemia
Low hemoglobin, low iron, low/normal TIBC,
normal/high ferritin level
Anemia of chronic disease
Mild anemia, low MCV, normal iron, normal TIBC, normal ferritin, normal RDW, Mentzer index < 13
Thalassemia trait
Mild anemia, low MCV, normal iron, normal TIBC, normal ferritin, normal RDW, Mentzer index < 13, and normal electrophoresis (no elevated Hgb A2)
Alpha thalassemia trait
A 12-month-old boy adopted from China with
delayed growth, hepatosplenomegaly, jaundice, and “chipmunk facies”
Beta thalassemia major. (Alpha thalassemia
major leads to severe anemia and hydrops
fetalis in utero, typically incompatible with life
without treatment)
Electrophoresis of a 3-year-old child, result
showed: Hb A is decreased to 94%, Hb A2 is
increased at 5%, and Hb F is 1%
Beta thalassemia minor
Electrophoresis result showed: Hb A > 98% with a small amount of Hb A2 visible
Normal electrophoresis
After birth, hemoglobin electrophoresis result
showed: No Hb A, Hb A2 of 4%, Hb F of 96%. No
other abnormal hemoglobins seen
Beta thalassemia major
A 2-month-old premature infant has a Hgb 9.0 with normal MCV
Anemia of prematurity
How much will 10 mL/kg of packed RBCs raise the hemoglobin?
~2 g/dL
Excessive cow milk consumption (> 16 oz/day) and microcytic anemia
Iron deficiency anemia
What are the best initial laboratory tests in cases with suspected iron deficiency anemia?
CBC and reticulocyte count
What is the best indicator of response to iron
therapy?
An increase in hemoglobin, reticulocyte count,
and MCV within 1–4 weeks
How long should iron therapy continue in cases of iron deficiency anemia?
At least 1–2 months after anemia has been
corrected to replete iron stores
What is the classic dose of iron in cases of iron
deficiency anemia?
3–6 mg/kg/day of “elemental iron”
A 2-year-old infant with a hemoglobin of 4 g/dL,
normal MCV, low reticulocyte count, normal ADA (adenosine deaminase activity), negative direct Coombs test and no signs of hemolysis
Transient erythroblastopenia of childhood
A 7-year-old child presents with pancytopenia, on exam also noted to have hypoplastic thumb and radius, hyperpigmentation, and abnormal facies
Fanconi anemia
A 4-month-old infant with severe anemia, high
MCV (macrocytic), elevated ADA, and exam shows triphalangeal thumb
Diamond–Blackfan anemia
Macrocytic anemia, neutropenia,
thrombocytopenia, exocrine pancreatic
insufficiency, ring sideroblasts in the bone marrow
Pearson marrow-pancreas syndrome
Short stature, imperforate anus, hypoplastic teeth, frequent infections, macrocytic anemia,
neutropenia, thrombocytopenia, and exocrine
pancreatic insufficiency
Shwachman–Diamond syndrome
Child who consumes goat’s milk and has
macrocytic anemia
Folic acid deficiency
Child whose family is strictly vegan and has
macrocytic anemia
Suspect B12 deficiency. Supplement with B12
Child with macrocytic anemia, glossitis, abdominal pain, gait instability with positive anti-IF antibodies
Pernicious anemia (B12 deficiency due to IF
antibodies)
Child with pallor, increased jaundice,
splenomegaly, reticulocytosis, and normocytic
hemolytic anemia. Peripheral smear shows RBCs without central pallor
Hereditary spherocytosis
An African-American boy recently started on
Bactrim for UTI with sudden onset of dark urine,
jaundice, and pallor. Splenomegaly on the exam. Labs are notable for anemia, reticulocytosis, indirect hyperbilirubinemia, low haptoglobin, and normal G6PD enzyme activity (during the episode). Peripheral smear is positive for Heinz bodies
G6PD deficiency. Enzyme activity test is
usually normal (false negative) during active
hemolysis due to the destruction of older
erythrocytes (that are G6PD deficient) and
presence of younger erythrocytes and
reticulocytes (that have normal/near-normal
enzyme activity). The test should be repeated
during remission, not during active hemolysis
Fava beans, primaquine, sulfa drugs, and
nitrofurantoin are known to exacerbate which
condition?
G6PD deficiency
Sickle cell anemia, swollen hands and feet, severe pain in hands and feet
Dactylitis
The most common cause of sepsis in patients with sickle cell disease
Streptococcus pneumoniae
Child with sickle cell disease presents with severe anemia, reticulocytosis, thrombocytopenia, and rapidly enlarging spleen
Splenic sequestration
Next best step → transfusion of packed RBCs
(monitor hemoglobin, expect additional rise in
Hgb from auto-transfusion from spleen)
Child with sickle cell disease, fever, malaise, rash, severe anemia, and reticulocytopenia
Aplastic crisis → treatment packed RBCs
transfusion as needed
Which virus is the most common cause of aplastic crisis?
Parvovirus B19
Common causes of morbidity and mortality in
children with sickle cell disease
Infection, acute chest syndrome, stroke
Child with sickle cell anemia presents with fever,
chest pain, tachypnea, shortness of breath, and new pulmonary infiltrate on imaging. Management?
Acute chest syndrome—start ceftriaxone +
macrolide (to cover for atypical organisms).
Avoid overhydration
Sickle cell patients are at higher risk of which type of organisms?
Encapsulated organisms—due to functional
asplenia. Make sure vaccines are up to date
What is the most common reason for
hospitalization in the child with sickle cell anemia? Management?
Vaso-occlusive pain crisis
Treatment: IV hydration, NSAIDs, and opioids
Adolescent male with a painful erection that has
lasted for several hours. Management?
Prolonged priapism—needs emergent
evaluation and treatment. Ask patient to come to the ER, aspiration +/− irrigation, phenylephrine, pain control, possible surgical
management
What is the most common cause of osteomyelitis in a child with sickle cell disease?
Salmonella
What is the next best step in a child with sickle cell disease and suspected osteomyelitis?
Imaging studies (MRI), blood culture, antibiotics (cover Salmonella and other Gram-negative bacilli, as well as S. aureus), consider biopsy for culture
Adolescent with sudden onset of fatigue, pallor,
scleral icterus, and tachycardia, high reticulocyte
count, positive direct antibody test. What is the
most likely diagnosis?
Autoimmune hemolytic anemia (AIHA)
What is the next best step in the previous lifethreatening case of autoimmune hemolytic anemia (AIHA)?
Start steroids. Supportive care may include
transfusion of the least incompatible packed
RBC unit(s)
Fever and absolute neutrophil count (ANC) < 500. What is the next best step?
Admit to the hospital, blood culture, IV
antibiotics
Neutropenia for 1 week every 3 weeks, associated with gingivitis, pharyngitis, skin infections during nadir
Cyclic neutropenia
How to establish the diagnosis of cyclic
neutropenia?
CBC 2–3 times per week for 6–8 weeks
What is the best management of cyclic
neutropenia?
Prophylactic granulocyte-colony stimulating
factor (G-CSF). Immediate attention with fevers
Severe neutropenia from birth, oral ulcers, gingivitis, recurrent infections, ANC is low all the
time
Kostmann syndrome
Persistent neck lymphadenopathy more than 1cm, fever, weight loss, night sweats, lack of response to oral antibiotics
Referral to a pediatric oncologist (lymph node
biopsy)
Child with a supraclavicular lymph node for
2 weeks. No other symptoms
Referral to a pediatric oncologist (must be
biopsied or investigated)
Most common malignancy in infants
Neuroblastoma
Most common malignancy in childhood
Acute lymphocytic leukemia
Most common CNS tumor in children
Astrocytoma
Most common benign tumor of the liver in children
Infantile hemangioendothelioma (most
commonly occurs in the first 6 months of life,
rarely seen in children > 3 years of age)
Toddler with an abdominal mass, ecchymosis,
raccoon eye, myoclonic jerking, and random eye
movements. The abdominal US is positive for a
large suprarenal mass. Urine catecholamines are elevated (HVA and VMA )
Neuroblastoma
Child presents with gingivitis, hepatosplenomegaly, orbital chloromas, WBC > 100,000. Peripheral smear shows Auer rods in blasts
Acute myelogenous leukemia
Chronic myelogenous leukemia is associated with which chromosome translocation?
Philadelphia chromosome t(9:22)
A 1-year-old with very large spleen, moderate
leukocytosis (increased monocytes), xanthoma,
eczema, and café-au-lait spo
Juvenile myelomonocytic leukemia (JMML).
JMML has an association with NF1 and
Noonan syndrome
Child with an abdominal mass presents with
abdominal pain, weakness, lethargy, oliguria,
edema, elevated lactate dehydrogenase (LDH) and uric acid, hyperkalemia, elevated phosphate, and low calcium
Burkitt lymphoma (tumor lysis syndrome)
What is the next best step in the previous case of tumor lysis syndrome?
Transfer immediately to oncology unit or PICU
for supportive care, including hydration,
correction of electrolytes—hyperkalemia,
hyperphosphatemia, hyperuricemia, renal
dysfunction. May even require hemodialysis
Microscopic picture of Hodgkin lymphoma
Reed-Sternberg cell
The most common type of lymphoma in children
Non-Hodgkin lymphoma
Most common malignant tumor of the kidney in
children
Wilms tumor
Child with macroglossia and Wilms tumor
Beckwith–Wiedemann syndrome
Most common soft-tissue tumor in children
Rhabdomyosarcoma
Long-term complications of radiotherapy
Growth retardation, hypothyroidism, early onset coronary artery disease, pulmonary fibrosis, secondary malignancy
Complication of doxorubicin therapy
Cardiomyopathy
Complication of vincristine therapy
Neuropathy
This antineoplastic drug can cause renal
impairment and ototoxicity
Cisplatin
Complication of methotrexate therapy
Renal and liver toxicity
Complication of cyclophosphamide therapy
Hemorrhagic cystitis
Common electrolyte abnormalities in tumor lysis syndrome?
Hyperkalemia, hyperuricemia,
hyperphosphatemia, and hypocalcemia
A 12-year-old boy with pain and swelling above the knee, pain is worse at night; radiograph shows a bone lesion with Codman’s triangle and sunburst pattern
Osteosarcoma
A 16-year-old girl with back pain and limp, fever,
weight loss, radiograph shows a mass on the iliac bone with a lytic lesion, onion-skin appearance
Ewing sarcoma
The translocation is commonly seen in patients
with Ewing sarcoma
t (11;22)
Child with a painless, bony mass on the knee,
radiograph shows broad base projection
Osteochondroma
Child with persistent pain in the lower part of the right femur, radiograph shows metaphyseal lucency surrounded by sclerotic bone, NSAIDs relieve the pain
Osteoid osteoma
Hemangioblastoma, pheochromocytoma, renal cell carcinoma, pancreatic cyst, and café-a- lait spots
Von–Hippel–Lindau disease
Impaired upward gaze, mid-dilated pupil,
nystagmus, and lid retraction
Parinaud syndrome
New-onset head tilt or torticollis, early morning
vomiting, headache, and gait disturbance
Posterior fossa brain tumor, e.g.,
medulloblastoma
Most common malignant CNS tumor in children
Medulloblastoma
Most common CNS tumor
Low-grade glioma (pilocytic astrocytoma is the
most common LGG)
Brain tumor with the best survival rate in children
Pilocytic astrocytoma
Child with recurrent headaches, growth failure,
polydipsia, double vision
Craniopharyngioma
A 6-month-old child with strabismus, absent red
reflex, and leukocoria
Retinoblastoma
The liver tumor that is associated with prematurity
Hepatoblastoma
The tumor that is associated with cryptorchidism
Gonadoblastoma
An infant with intracranial hemorrhage,
prothrombin time (PT), partial thromboplastin time (PTT), and platelet count, fibrinogen and vWD panel is within normal limits
Factor XIII deficiency
Child with normal PT, very prolonged PTT, has no history of excessive bleeding even after injuries
Factor XII deficiency
A 5-year-old with upper respiratory tract infection 2 weeks ago, presents with a bloody nose, petechial rash all over the body and oral mucosa. CBC is normal except platelet count is 12,000, peripheral smear shows very few large platelets
Idiopathic thrombocytopenic purpura (ITP)
What is the treatment in the previous case of ITP?
Observation if no signs of bleeding; if signs of
bleeding, then treat with IVIG or steroids
A 2-year-old boy with recurrent infections, eczema, severe thrombocytopenia, and small platelets
Wiskott–Aldrich syndrome
Newborn with severe thrombocytopenia, maternal history of ITP or other autoimmune disorder
Neonatal ITP → give IVIG
Newborn with severe thrombocytopenia, maternal history of prior children with neonatal
thrombocytopenia and no maternal history of
autoimmunity
Neonatal alloimmune thrombocytopenia →
transfuse maternal platelets (gold standard);
however, difficult to obtain. The alternative
option is donor platelets +/− IVIG, steroids
Unusual bleeding since birth, recurrent bruising,
recurrent mucosal bleeding, low to normal platelet count, normal PT and PTT, normal fibrinogen, normal von Willebrand antigen and activity
Platelet function disorders, e.g., Bernard–
Soulier syndrome, Glanzmann thrombasthenia
A 10-year-old with recurrent epistaxis, easy
bruising, gingival bleeding, normal count and
morphology of platelets, platelets agglutinate to
ristocetin, poor platelet aggregation with adenosine diphosphate (ADP), epinephrine, and collagen
Glanzmann thrombasthenia (normal platelet
count and size)
A 10-year-old with a suspected bleeding disorder, workup shows mild thrombocytopenia, with large abnormal platelets, platelets do not agglutinate to
ristocetin but agglutinate to ADP, epinephrine, and collagen
Bernard–Soulier syndrome (large platelets, can
have low platelet count)
Most appropriate management for life-threatening bleeding in a child with a known or suspected platelet function disorder
Infusion of platelets with normal function
A 48-h-old newborn presents with prolonged
bleeding after circumcision, CBC shows severe
thrombocytopenia. On exam no radii in both
forearms but with normal thumbs
Thrombocytopenia with absent radii (TAR
syndrome)
Male newborn with prolonged bleeding after
circumcision, and prolonged PTT
Factor VIII or IX deficiency, or hemophilia A or
B
A 15-year-old girl with excessive menstrual
bleeding every month since menarche, normal PT and PTT, decrease in biological activity of
ristocetin cofactor assay (rCoF)
Von Willebrand disease
A 4-year-old child with a recent history of vomiting and bloody diarrhea found to have
thrombocytopenia, elevated BUN and creatinine, schistocytes on peripheral smear
Hemolytic uremic syndrome—occurs in infants
and children after prodromal diarrhea,
associated with bacteria particularly E. coli
O157: H7, and Shigella dysenteriae
Child currently hospitalized in the PICU with
prolonged PT, PTT, elevated D-dimer,
thrombocytopenia, and decreased fibrinogen
Disseminated intravascular coagulation (DIC)
Treatment: treat the underlying cause (e.g.,
antibiotics for sepsis). Supportive care with
blood products—FFP +/− cryoprecipitate
A 17-year-old Caucasian boy with recurrent
episodes of DVT along with a strong family history of DVT
Factor V Leiden mutation—resistance to
activated protein C
A 2-year-old boy with oral ulcers, cradle cap-like
rash, and gingivitis, with radiograph showing lytic lesions in the skull
Langerhans cell histiocytosis—Birbeck
granules on electron microscopy
A 1-year-old sick-appearing child with fever,
hepatosplenomegaly, pancytopenia,
hypertriglyceridemia, and very elevated ferritin;
presence of hemophagocytosis in bone marrow
Hemophagocytic lymphohistiocytosis (HLH)
