Pediatric Acute Lymphoblastic Leukemia Clinical Presentation

Updated: Jul 22, 2022
  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK); Chief Editor: Jennifer Reikes Willert, MD  more...
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Children with acute lymphoblastic leukemia (ALL) often present with signs and symptoms that reflect bone marrow infiltration and/or extramedullary disease. When leukemic blasts replace the bone marrow, patients present with signs of bone marrow failure, including anemia, thrombocytopenia, and neutropenia. In patients with B-precursor ALL, bone pain, arthritis, and limping may be presenting symptoms and in 5% of patients are the only symptoms, leading to delays in diagnosis. [11] Fevers, whether low- or high-grade, are common at presentation, but despite neutropenia, sepsis is rarely seen. Other common clinical manifestations include fatigue, pallor, petechiae, and bleeding. In addition, leukemic spread may manifest as lymphadenopathy and hepatosplenomegaly.

Mature-B ALL may be associated with extramedullary masses in the abdomen or head and neck and central nervous system (CNS) involvement.

In patients with T-lineage ALL, respiratory distress and stridor secondary to a mediastinal mass may be a presenting symptom.

Symptoms of CNS involvement, such as headache, vomiting, lethargy, and nuchal rigidity are rarely noted at initial diagnosis but are more common in T-lineage and mature B cell ALL. [1] Cranial nerve deficits are an important sign of CNS involvement. Testicular involvement at diagnosis is also rare; if present, it appears as unilateral painless testicular enlargement.


Physical Examination

Physical findings in children with acute lymphoblastic leukemia (ALL) reflect bone marrow infiltration, as well as extramedullary disease. Patients commonly present with pallor caused by anemia and petechiae and bruising secondary to thrombocytopenia. Leukemic infiltration may manifest as lymphadenopathy and hepatosplenomegaly. If it involves the central nervous system (CNS), papilledema, nuchal rigidity, and cranial nerve palsy is sometimes found. Testicular examination in males is critical; leukemic infiltration usually manifests as unilateral painless testicular enlargement.

The presence of stridor is cause for concern and may signify a mediastinal mass, found in half of patients with T-lineage ALL, with a risk of imminent respiratory arrest. Attempts to lay the patient flat or perform intubation should be avoided, and the patient should commence steroid therapy and be transferred to the pediatric intensive care unit for close observation while workup is underway.