Alpha Thalassemia

Category: generalpediatrics-Hematology-Oncology

Findings: microcytic anemia, diagnosed by genetic testing, four subtypes of this disease

Notes: Having one or two defective genes of alpha chain may be asymptomatic while three gene defects can cause moderate to severe disease (Hemoglobin H disease). Having four defective genes is incompatible with life (Hemoglobin Barts).

Bernard-Soulier Syndrome

Category: generalpediatrics-Hematology-Oncology

Findings: large platelets, prolonged bleeding time, mild thrombocytopenia, Ristocetin test with no platelet aggregation

Notes: These large platelets have trouble aggregating. Autosomal recessive. May see mucocutaneous bleeding in infancy. Ristocetin test negative as platelets lack receptor that binds von Willebrand factor. Aggregates in response to adenosine diphosphate, epinephrine, and collagen.

Question: What fits these findings?

Beta Thalassemia Major

Category: generalpediatrics-Hematology-Oncology

Findings: severe microcytic anemia, target cells, basophilic stippling, elevated HbF and HbA2

Cyclic Neutropenia

Category: generalpediatrics-Hematology-Oncology

Findings: aphthous ulcers, fever, mucosal ulcers, cervical lymphadenitis, abdominal discomfort, occurring every 3 weeks

Notes: Treat with g-CSF and antibiotics if needed

Question: What fits these findings?

Diamond-Blackfan Anemia

Category: generalpediatrics-Hematology-Oncology

Findings: macrocytic anemia, pure red cell aplasia, triphalangeal thumbs, craniofacial anomalies, low reticulocyte counts, intellectual disability, short stature

Notes: Problem with production, not hemolysis. Treat with steroids.

Question: What fits these findings?

Disseminated Intravascular Coagulation (DIC)

Category: generalpediatrics-Hematology-Oncology

Findings: thrombocytopenia, low fibrinogen, elevated D-dimer

Notes: Treat with what is missing. Replace low fibrinogen with cryoprecipitate and low clotting factors with FFP.

Question: What fits these findings?

Ewing Sarcoma

Category: generalpediatrics-Hematology-Oncology

Findings: long bone with lamellated onion skin findings on xray, may also affect soft tissues and pelvic bones, very painful

Question: What fits these findings?

Fanconi Anemia

Category: generalpediatrics-Hematology-Oncology

Findings: pancytopenia or aplastic anemia, short stature, abnormal thumbs, cafe au lait spots, renal abnormalities, microcephaly, hypogonadism, limb abnormalities, hypocellular bone marrow with fatty infiltration

Notes: Treat with bone marrow transplant

Question: What fits these findings?

Glanzmann Thrombasthenia

Category: generalpediatrics-Hematology-Oncology

Findings: normal INR and PTT, normal amount of platelets, platelets aggregate to adenosine-collagen-epinephrine but not to ristocetin

Notes: Due to defective integrin on platelet surface

Question: What fits these findings?

Immune Thrombocytopenia (ITP)

Category: generalpediatrics-Hematology-Oncology

Findings: thrombocytopenia, large platelets, normal hemoglobin, petechiae, recent viral infection

Notes: Treat with IVIG or Rhogam. Avoid steroids unless malignancy is ruled out as steroids may induce temporary remission of leukemia.

Question: What fits these findings?

Kasabach-Merritt Syndrome

Category: generalpediatrics-Hematology-Oncology

Findings: congenital vascular tumor, consumptive coagulopathy resulting in low coagulation factors, thrombocytopenia

Question: What fits these findings?

Kostmann Syndrome

Category: generalpediatrics-Hematology-Oncology

Findings: chronic severe neutropenia at birth, recurrent bacterial infections, autosomal recessive, early death, pathologic HAX1 gene

Notes: Treat with g-CSF. Cure with bone marrow transplant. Increased likelihood to develop AML and myelodysplasia.

Question: What fits these findings?

Langerhans Cell Histiocytosis

Category: generalpediatrics-Hematology-Oncology

Findings: papules or petechiae at folds that may look like eczema, lytic bone lesion, diabetes insipidus, high urine output

Neuroblastoma

Category: generalpediatrics-Hematology-Oncology

Findings: opsoclonus myoclonus, myoclonic jerking, periorbital ecchymoses, abdominal pain

Notes: Most common pediatric extracranial solid tumor

Osteochondroma

Category: generalpediatrics-Hematology-Oncology

Findings: benign bony tumor with cartilaginous cap, near growth plates, painless

Osteoid Osteoma

Category: generalpediatrics-Hematology-Oncology

Findings: central lucency with thickened outer layer, unilateral benign tumor, worse at night

Notes: Feels like growing pains

Osteosarcoma

Category: generalpediatrics-Hematology-Oncology

Findings: unilateral long bone pain, sunburst pattern on xray

Paroxysmal Nocturnal Hemoglobinuria

Category: generalpediatrics-Hematology-Oncology

Findings: dark urine in the morning, coombs negative

Notes: Diagnose with flow cytometry of deficient CD55 and CD59 expression on cells

Rhabdomyosarcoma

Category: generalpediatrics-Hematology-Oncology

Findings: different presentations as rectal or vaginal grape-like mass, head or neck mass

Notes: Most common soft tissue sarcoma

Shwachman-Diamond Syndrome

Category: generalpediatrics-Hematology-Oncology

Findings: pancreatic insufficiency mimicking cystic fibrosis, skeletal abnormalities, short stature, neutropenia, recurrent bacterial infections

Notes: Autosomal recessive. Increased risk of leukemia and myelodysplastic syndrome.

Question: What fits these findings?

Thrombocytopenia Absent Radius Syndrome

Category: generalpediatrics-Hematology-Oncology

Findings: Tetralogy of Fallot or other congenital cardiac defect, absent radii, decreased megakaryocytes in bone marrow

Tumor Lysis Syndrome

Category: generalpediatrics-Hematology-Oncology

Findings: elevated potassium phosphorus or uric acid, treated with allopurinol or rasburicase and IV fluids

Notes: Continue to monitor electrolytes

WAGR Syndrome

Category: generalpediatrics-Hematology-Oncology

Findings: asymptomatic unilateral flank mass, aniridia, genitourinary anomalies, intellectual disability

Notes: Wilms tumor is nephroblastoma, and is the most common abdominal pediatric malignancy. May see gross hematuria and hemihypertrophy.

Question: What syndrome fits these findings?