The patient is a 17-year-old female with history of autism spectrum disorder (ASD) and well-controlled seizure disorder presenting with worsening anemia on blood work.

She was seen at an outpatient neurology appointment for routine medication and symptom monitoring, at which time blood work revealed anemia and thrombocytopenia. Medication adverse effect was assumed, and one seizure medication was discontinued at that time.

CBC was repeated after cessation of medication, and the anemia had worsened rather than improved. Her mother was instructed to bring the patient to the emergency department for further evaluation.

The patient and family reported a 1-month history of worsening fatigue, pallor, weight loss, oral ulcers, and foot/leg pains.

Initial laboratory results were as follows:

• CBC: Hb 6.8 g/dL, WBC 2.87 K/mcL, PLT 40 K/mcL, MCV 115.6 fL, RDW 13.8%, ANC 0.97 K/mcL
• Reticulocyte count: 1.1%
• Metabolic panel including electrolytes and LFTs within normal limits for age
• Uric acid 5.0 mg/dL, LDH 1119 U/L

Based on the available history and lab results, which of the following is the next best step in identifying the patient’s diagnosis?

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Victoria E. Lehrmann, MD, PGY-4 Fellow
Melissa Frei-Jones, MD MSCI, Fellowship Program Director

Pediatric Hematology and Oncology
University of Texas Health Science Center at San Antonio
San Antonio, TX

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Categories: Case Quiz