Presentation on theme: "Patient 1 CC: 5YOWFpresents with fever, marked weakness, pallor, bone pain, and bleeding from her nose HPI: progressively increasing fatigability and."— Presentation transcript:
1Patient 1CC: 5YOWFpresents with fever, marked weakness, pallor, bone pain, and bleeding from her noseHPI: progressively increasing fatigability and infections over the past few monthsPE: marked pallor; epistaxis; ecchymotic patches over skin; sternal tenderness; slight hepatosplenomegaly with nontender lymphadenopathy; no signs of meningitis; normal funduscopic exam.
2Gross PathologyNeoplastic infiltration of lymph nodes, spleen, liver and bone marrow.Loss of normal bone marrow architecture.
4Micro PathologyMyelophthisic bone marrow (distorted architecture secondary to a space-occupying lesion) with lymphoblastic infiltrationLymphoblasts with inconspicuous nucleoli, condensed chromatin, scant cytoplam
5Labs Normocytic, normochromic anemia Absolute lymphocytosis with excess blasts (>30%)Negative monospot test for Epstein-Barr virus.Positive terminal deoxytransferase (TdT)(marker for immature T and B lymphocytes)Positive CD10 marker (CALLA-Common Acute Lymphoblastic Leukemia Antigen
6Diagnosis and Discussion Acute Lymphocytic Leukemia (ALL)Discussion:ALL is the most common pediatric neoplasm; it accounts for 80% of all childhood leukemias. It carries a good prognosis.
7Patient 2CC: 25YOF presents with high grade fever, menorrhagia, and marked weaknessHPI: recurrent infections over the last few weeksPE: Marked pallor; multiple purpuric patches over skin; hepatosplenomegaly; gingival hyperplasia; sternal tenderness; normal funduscopic and neurologic exam
8Gross Pathology Bone erosion due to marrow expansion Chloroma formation, mainly in skullSplenomegaly
10Micro PathologyAuer Rods (basophilic cytoplasmic bodies) in myelocytesPeroxidase positive stains on bone marrow and gingival biopsyMyeloblasts with myelomonocytic differentiation replace normal marrow
11Labs Normocytic, normochromic anemia. Thrombocytopenia Neutropenia. Prolonged PT/PTTLeukocytosis composed mainly of myeloblasts and promyelocytes
12Diagnosis and Discussion Acute Myelogenous Leukemia (AML)Discussion:Not as common as ALL. Increased risk associated with ionizing radiation, benzene exposure, Down’s syndrome, and cytotoxic chemotherapeutic agents
13AML/ALL Common Symptoms Fever, pallor, weakness, bone pain, epistaxis, recurrent infectionsThrombocytopenia; neutopeniaMinor hepatosplenomegaly
14AML vs. ALL Gingival lesions Auer Rods Nontender lymphadenopathy Scant cytoplasmCD10 (CALLA) positiveTdT positive
15Patient 3 11Month Old M of Indian descent CC: Presents with marked pallor, failure to thrive, and delayed developmental motor milestones.PE: Marked pallor, mild icterus; frontal bossing and maxillary hypertrophy “chipmunk face;” splenomegaly
16ImagingXR, Skull (lateral): maxillary overgrowth and widening of diploic spaces with “hair on end” appearance of frontal bone, caused by vertical trabeculae
17Gross Pathology Expansion of hematopoietic bone marrow Thinning of cortical bone
21Diagnosis and Discussion Beta ThalassemiaDiscussion:Beta-Thalassemia results from decreased synthesis of beta-globulin chains due to errors in transcription, splicing or translation of mRNA.Alpha-Thalassemia results from decreased synthesis of alpha-globulin chain due to deletion of one or more of the four alpa genes normally present.
22TreatmentBlood transfusion, folic acid supplementation, iron chelation therapy, bone marrow transplantation
23Patient 424YOWMCC: Rapid enlargement of his abdomen, producing a dragging sensation, along with a painless lump in his neck for the past two monthsHPI: Intermittent fever, drenching night sweats, pruritus, and significant weight lossPE: Pallor; unilateral nontender, rubbery, enlarged cervical lymph nodes; splenomegaly; no enlargement of tonsils
24Labs Neutrophilic leukocytosis with lymphopenia Normocytic anemia Elevated ESRElevated serum Cu and ferritinNegative Mantoux test
28Micro PathologyLymph node biopsy shows large histiocyte cells with multilobed nuclei and eosinophilic nucleolus resembling owl’s eyes (Reed-Sternberg Cells)No bone marrow involvement.
29Diagnosis and Discussion Hodgkin’s LymphomaDiscussion:Four patterns seen on biopsy. Common symptoms are the fever, night sweats, and weight loss. The disease spreads to contiguous lymph nodes before moving into the blood.
30Patient 5 40YOWM CC: Life insurance physical exam HPI: No complaints except occasional fatigue and increasing abdominal girth.PE: Pallor of skin and mucus membranes; markedly enlarged spleen; pain on palpation of sternum; no lymphadenopathy
31Gross Pathology Skull chloromas Enlarged congested spleen with areas of thrombosis and microinfarctsHepatomegaly
34Labs Markedly elevated WBC count (130,000) Immature granulocytes mixed with normal appearing onesBasophilia, eosinophilia, early thrombocytosis, late thrombocytopeniaLow leukocyte alkaline phosphataseElevated serum vitamin B12Chromosomal translocation t(9;22)/bcr-abl gene (Philadelphia Chromosome)
35Micro Pathology Hepatic sinusoidal leukemic infiltrates Congestive splenomegaly with myeloid metaplasiaPhiladelphia chromosome in all myeloid progeny
36Diagnosis and Discussion Chronic Myelogenous Leukemia (CML)Discussion:Death usually results from accelerated transformation into acute leukemia (blast crisis) within 2-5 years.
37Patient 6 65YOWM CC: Routine checkup HPI: On directed history, he admits to a weight loss of about 12lbs over the past 4 mos, together with episodes of epistaxis and extreme fatiguePE: Generalized nontender lymphadenopathy; pallor; enlargement of spleen and liver
38Gross Pathology Lymph node enlargement Hepatosplenomegaly with tumor nodule formation
40Micro PathologyBone marrow biopsy reveals extensive infiltration, normal-looking lymphocytes and a few lymphoblastsBlood smear shows many lymphocytes with small, dark, round nucleus and scant cytoplasm
41Labs Markedly elevated WBC (124,000) 90% Lymphocytes No lymphoblasts Mild thrombocytopeniaCooms-positive hemolytic anemiaSmudge cellsB-cells express CD5 (normally a T-cell marker)
42Diagnosis and Discussion Chronic Lymphocytic Leukemia (CLL)Discussion:CLL is a malignant neoplastic disease of B Lymphocytes that express surface marker CD5. Characterized by slow progression of anemia, hemolytic anemia, recurrent infections, lymph node enlargement, and bleeding episodes.
43Patient 7 10YOBM CC: Chronic nonhealing ulcer on lower leg HPI: Recurrent episodes of abdominal and chest pain along with diminution of vision.PE: Fever; pallor; mild icterus; funduscopy shows hypoxic spots with neovascularization; nonhealing chronic ulcer on left lower leg
49Patient Next 10 Month old Female CC: Mother claims the child is “a retard.” She cannot see properly, and falls repeatedly.PE: No lacerations of fractures noted; normal physical development for size and weight; bruises in different stages of healing; bilateral retinal hemorrhages
50Imaging and Labs Imaging: XR: No new or old fractures Labs: Coagulation profile is normal.
51Diagnosis and Discussion Shaken Baby Syndrome---AbuseDiscussion:Vigorous shaking can produce vitreous and retinal hemorrhages that may be the only verifiable sign of child abuse.We are required by law to report any suspicion of child abuse or neglect to state protection agencies
52Patient Last 64YOBM CC: Bone pain, weight loss, easy fatigability HPI: Recurrent URIs and frequent nose bleedsPE: Pallor; bone tenderness in lower back and ribs; petechiae on buccal mucosa; no hepatosplenomegaly.
53Labs Normocytic, normochromic anemia Neutropenia Rouleau formation Elevated Serum Ca++Normal alkaline phosphataseIncreased ESRGamma spike on serum protein electrophoresisUA: Bence Jones Proteinuria