Case Study: Unexplained Bruises

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Vital signs:

• BP 108/68 (normal for 6-year-old)
• HR 130/min (normal 80-120/min)
• RR 20/min (normal 20-28/min)
• T 98.7oF
• HT 41 inches (normal 41-43 inches)
• WT 37 lbs (normal 40-50 lbs)

Review of Systems: only abnormal values presented

Skin: very pale, warm, and dry, ecchymosis on extremities, over the buttocks and lower left flank area. No rashes

HEENT: Petechiae of mucous membranes on gums and back of throat, cervical adenopathy, four palpable, non-tender, 2-cm lymph nodes in submaxillary chain

Abd: Liver and spleen enlarged

MS/Ext: Mild adenopathy in inguinal region, bilaterally

Laboratory Test Results:

• Hb 7.7 g/dL
• Hct 23%
• RBC 2.8 million/mm3
• WBC 13,100/mm3
• Neutrophils 59%
• Lymphocytes 26%
• Monocytes 3%
• Eosinophils 1%
• Basophils 0%
• Blasts 10%
• Platelets 29,000/mm3
• AST 78 IU/L
• ALT 100 IU/L
• Total bilirubin 0.8 mg/dL
• Total protein 6.8 g/dL
• Alb 3.5 g/dL
• Ca 9.2 mg/dL
• Phos 4.0 mg/dL
• Uric acid 4.2 mg/dL
• PT 13 sec
• PTT 25 sec
• Glucose, fasting 90 mg/dL

Thanks for the update, SafetyNurse!

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Drum roll please......

Laboratory Test Results (with normal values):

• Hb 7.7 g/dL (12-15.5 g/dL)
• Hct 23% (35-45%)
• RBC 2.8 million/mm3 (4.6-6.1)
• WBC 13,100/mm3 (4,800-10,800)
  • Neutrophils 59% (57-67)
  • Lymphocytes 26% (25-33)
  • Monocytes 3% (3-7)
  • Eosinophils 1% (1-4)
  • Basophils 0% (0.5-1%)
  • Blasts 10% (1-5%)
• Platelets 29,000/mm3 (150-450,000)
• AST 78 IU/L (0-35)
• ALT 100 IU/L (7-56)
• Total bilirubin 0.8 mg/dL (0.1-1.2)
• Total protein 6.8 g/dL (6-8)
• Alb 3.5 g/dL (3.4-4.7)
• Ca 9.2 mg/dL (8.5-10.5)
• Phos 4.0 mg/dL (2.5-4.5)
• Uric acid 4.2 mg/dL (1.4-5.8 in females)
• PT 13 sec (11-15)
• PTT 25 sec (25-35)
• Glucose, fasting 90 mg/dL (60-110)

Course of treatment:

Ann was immediately referred to a pediatric oncologist and admitted to the children’s hospital for workup.

Bone Marrow Aspirate:

93% blasts, 3% erythroblasts, 4% all other cells

RT-PCR (+) for TEL-AML1 fusion gene with no other cytogenetic abnormalities

Chest X-ray:

Normal with no mediastinal mass

Lumbar puncture:

• Spinal fluid clear and colorless
• Opening pressure 90 mm H2O
• Glucose 50 mg/dL
• Total protein 18 mg/dL
• No blasts present

Immunology:

(+) for cytoplasmic u heavy-chain proteins

Ann has acute lymphoblastic leukemia (ALL), the most common pediatric cancer. Sixty percent of all ALL cases occur in children, with a peak incidence at age 2 to 5 yr. A high circulating number of blasts, replacement of normal marrow by malignant cells, and the potential for leukemic infiltration of the CNS is caused by malignant transformation and uncontrolled proliferation of an abnormally differentiated, long-lived hematopoietic progenitor cell. Symptoms include fatigue, pallor, infection, bone pain, CNS symptoms (eg, headache), easy bruising, and bleeding. Examination of peripheral blood smear and bone marrow is usually diagnostic. Treatment typically includes combination chemotherapy to achieve remission, intrathecal and systemic chemotherapy and/or corticosteroids for CNS prophylaxis, and sometimes cerebral irradiation for intracerebral leukemic infiltration, consolidation chemotherapy with or without stem cell transplantation, and maintenance chemotherapy for up to 3 yr to avoid relapse. The (+) TEL-AML1 fusion gene is the most common chimeric fusion gene in childhood cancer. It is selectively associated with B cell precursor acute lymphoblastic leukemia.

A lumbar puncture can determine if the leukemia has spread to the cerebral spinal fluid (CSF). Knowing whether or not there is leukemia in the central nervous system helps determine the most appropriate treatment. All children with ALL receive medicine to treat or prevent leukemia of the central nervous system at the same time as the lumbar puncture at specific times during treatment.

Elevated transaminases are common at initial presentation of ALL and are likely due to hepatic injury from leukemic infiltrates. Conjugated hyperbilirubinemia at presentation may require treatment modification and dose reduction. A short course of steroids prior to initiation of induction chemotherapy appears to result in rapid resolution of the hyperbilirubinemia with subsequent ability to provide full dosing of induction chemotherapy.

Treatment:

On the 2nd day following admission, Ann was treated with irradiated/filtered platelets, packed red blood cells and allopurinol (what is the purpose of allopurinol prior to intensive chemo?)

Day 3 remission induction therapy orders

• Prednisone 1 mg IV q wk x 4
• Vincristine 1 mg IV q wk x 4
• Asparaginase 3,600 units on chemotherapy days 3, 6, 9, 13, 16, 20
• Intrathecal therapy with methotrexate on chemotherapy days 3 and 17

Prognosis:

Younger patients have a better prognosis. This is B-cell ALL, having a lower WBC count (< 30,000) when first diagnosed confers a better diagnosis. Ann had much less than 30,000). Abnormal numbers of chromosomes, abnormal structural changes in a chromosome, or certain molecular genetic changes in the chromosomes of leukemia cells may affect outcome and treatment. Note that the genetic changes referred to here are changes in the genes of the leukemia cells, not the child’s cells – most children with leukemia have completely normal genes.

Response to early treatment:

How well treatment works in the first 1 to 4 weeks of treatment may predict the leukemia’s overall response to treatment. This will be determined by examining the child’s blood or bone marrow regularly. Recent studies have shown that some children may need more intense treatment to improve the chance of a cure. This includes children whose cancer is not responding well to early treatment or those who have high levels of residual leukemia cells (cells remaining after treatment) at the end of remission induction.

References

American Cancer Society, ALL

Merck Manual – Professional Edition

Abnormal liver transaminases and conjugated hyperbilirubinemia in ALL

Here are the responses from members who came to the Admin Help Desk to submit their diagnoses for the 5th Case Study Investigation (CSI).

CONGRATULATIONS and DOUBLE THUMBS UP to those with the correct FINAL diagnosis!

3/2/20

Susie2310

Quote

?? I haven't had the chance to go through all the labs but from what I can tell the diagnosis looks like Acute Lymphoblastic Leukemia (1st guess)or another type of Leukemia. In Ann's case I understand her prognosis would be good. Treatment is chemotherapy and/or radiation, and sometimes Stem Cell Transfer.

dream'n

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? I'll go and try to answer, but I may be way wrong because I didn't research anything and this is totally off of the top of my head...she needs a bone marrow biopsy. Maybe leukemia?

DextersDisciple

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?? Acute Lymphocytic Leukemia

3/4/20

lsession2

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? Leukemia

NurseBlaq

Quote

Answer: Von Willebrand disease

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