Sample Case Presentation Agatha Stanek January 26, 2010

1. Sample Case Presentation Agatha Stanek January 26, 2010

2. Case presentation • 5 year- old girl brought to paediatric clinic by her mother who says the patient is tired, sleeps more than usual, and has a very low appetite • Unexplained bruises on arms and legs. • Afebrile at home but patient’s skin is very pale, warm and dry

3. Presentation continued • Child is alert but ill-appearing • Height and weight are normal for a 5- year old • No redness in throat • Child admits to some tenderness in abdominal area • Child not involved in any competitive sports

4. Patient History • Medical Hx • Patient was a full- term infant from uncomplicated pregnancy and delivery • All immunizations are current • Only previous childhood disease- measles at age 2 years • Mother reports child’s fatigue and other symptoms having steadily worsened in the past week

5. Family Hx • Patient lives with parents and one older brother (healthy) • Grandmother died at age 62 from gastric cancer. • Patient not exposed to any form of radiation or chemicals • Social Hx • Patient lives with family in urban area in proximity to heavily occupied roads • Developmental milestones are up to par • Occupational Hx • Patient goes to nearby elementary school and daycare 5 days a week

6. Physical Exam VS: Patient Normal range Systolic BP= 109 mm (94-109 mm) Diastolic BP= 67 mm (56-69 mm) HR= 130/min (70-115/min awake) RR= 20/min (17-27/min) T= 37° C 37° C HT= 41 inches (41-43 inches) WT= 37 lbs (40-50 lbs) HEENT: Pupils equal at 3 mm, round, and reactive to light and accomodation Petechiae of mucous membranes Neck: mild adenopathy; neck not tender Cardiac: No murmurs MS/Ext: no bone or joint pain elicited by palpation Abd: No masses but liver and spleen enlarged

7. Differential Diagnosis?

8. Laboratory Test Results

9. Additional Tests • Lumbar Puncture • Spinal fluid clear, colourless • Opening pressure 90 mg/dL • Glucose 50 mg/ dL • Total protein 18 mg/dL • No blasts present • Bone Marrow Aspirate • 93% blasts, 3% erythroblasts, 4% all other cells • (-) for TEL-AML 1 fusion gene • Chest X-Ray • Normal with no mediastinal mass • Immunology • (+) for cytoplasmic µ heavy-chain proteins

10. Peripheral Blood Smear Results Rubin E, Farber JL. Pathology. 3rd Ed. Philadelphia: Lippincott Williams & Wilkins, 1999.)

11. Diagnosis! Acute lymphoblastic leukemia Why “acute”? How does this vary from T cell acute lymphoblastic leukemia? Diagnosis depends on detection of??? 1- at least 2 surface immunoglobulins. ->CD 79 -vs CD 3 in T cell ALL. 2-distinctive lymphoblast morphology ex: prominent vacuoles OR 3- expression of cytoplasmic immunoglobulin μ heavy-chain proteins

12. Treatment 1- Remission and 2-induction therapy (peripheral blood count and bone marrow normalize) with.... Irradiated/ filtered platelets, packed RBCs, and allopurinol. Chemotherapy: Involves use of 3-4 drugs 3- Consolidation: continue use of drugs but at higher doses May require 2 or more years of continuiation therapy

13. Treatment of subclinical CNS leukemia Intensive intrathecal (i.e., via spinal fluid) and systemic chemotherapy. This strategy has produced excellent results with CNS relapse rates <2%. Why is treatment important? • Antibiotics? • Peridex/ Biotine?

14. Possible complications of treatment • Renal failure • sepsis • bleeding • thrombosis (i.e., intravascular blood clots) • encephalopathy (i.e., widespread degeneration of thebrain) • seizures • secondary cancer (from therapy) • growth hormone deficiency, which can result in shortstature • major cognitive defects

15. Prognosis/ Follow up Good prognosis:absence of serious cytogenetic abnormalities a WBC count <30,000/cu mm, and complete remission within 4 weeks. Poor prognosis: presence of serious cytogenetic abnormalitieswith a WBC count >100,000/cu mm,or failure to achieve complete remission within 4 weeks. Prognosis is typically best for children ages 1–10. Overall cure rate for ALL is currently 80- 85%.