Massive splenomegaly in a 6-year-old girl

The case

A 6-year-old female with history of previously resolved iron-deficiency anemia presents to the emergency department (ED) for numerous episodes of nonbloody, nonbilious vomiting and diffuse abdominal pain that began on the day of presentation. She had initially presented to her pediatrician who felt a large left-upper-quadrant abdominal mass and referred her to the ED for further evaluation. She has no associated diarrhea or urinary symptoms.

The patient’s mother noticed that her daughter’s abdomen had gradually been looking larger and fuller over the past several days, and today the child began vomiting whenever she ate or drank. Her mother also described a flat, nonpruritic rash that appeared diffusely on her daughter’s body over the preceding days. When asked about other bruises or abnormal bleeding, the mother shared that the child had been having epistaxis bilaterally more frequently and severely than ever before, now occurring most days and without excessive nose-blowing, picking, or recent respiratory illness. The remainder of the patient’s review of systems was negative including fever, household sick contacts, and abdominal trauma.

Evaluation and testing

On initial examination, the patient was noted to be very well appearing. She was smiling, friendly, talkative, and did not appear to be in any distress. Her skin showed diffuse petechiae on the face, arms, legs, abdomen, and back. She had no mucosal lesions. Her abdomen was soft but distended. She had mild tenderness diffusely to palpation but when asked where it hurt the most she pointed to her epigastric region. She had no rebound tenderness or guarding.

The patient was found to have massive splenomegaly measuring approximately 6 cm below the left costal margin without hepatomegaly. The spleen extended toward the pelvis and medially toward midline, palpable just lateral to the umbilicus. The remainder of her physical exam was otherwise unremarkable.

At this time, an abdominal ultrasound was performed to confirm that what was initially described as a right upper-quadrant mass was her enlarged spleen. Abdominal and pelvic computed tomography (CT) was also obtained at this time in the ED to better assess for mass effect of her organomegaly, further characterize the spleen, assess for abdominal lymphadenopathy, and confirm a normal-sized liver (Figure 1). At this time, clinicians presumed that her severe splenomegaly was causing a pseudo-obstructive effect resulting in emesis with oral intake.

Initial bloodwork was obtained including a complete blood count (CBC) and coagulation studies given her diffuse petechiae on exam and history of recurrent epistaxis. Her CBC showed significant pancytopenia with leukopenia to 3.9 K/uL with absolute neutrophil count (ANC) of 1300 K/uL; normocytic anemia with hemoglobin (Hgb) of 10.2 g/dL; hematocrit (Hct) of 29%; however, platelets clumped so were unable to be calculated on this first sample. Her prothrombin time (PT) was elevated to 16.5 sec with an international normalized ratio (INR) of 1.4 sec.