Breathless 2

A 12 year old girl presents with worsening exertional dyspnea, fatigue, and multiple episodes of fever over the last 3 weeks. She also noticed several bruises over her legs during the last week which could not be attributed to trauma.

She had an episode of glandular fever 2 months ago, with an uneventful recovery. Her medical history is otherwise unremarkable, and there is no family history of hematologic disorders.

She is not on any medications, and consumes a normal diet.

Select Relevant Investigations
Full Blood Count

Performed

WBC: 2,300/mm3 (4,000 - 11,000)
Neutrophils: 15% (50-70)
Lymphocytes: 80% (20-40)
RBC: 2.6 x 10^12/L (4.0-5.4 × 10^12)
Hb: 6.8 g/dL (11.5-13.5)
Plt: 17,000/mm3 (150,000 - 400,000)
Reticulocytes: 0.6% (0.2-2)
Blood Picture

Performed

There is pancytopenia with macrocytosis, anisopoikilocytosis and small platelets. There are no dysplastic neutrophils, blast cells, or other abnormal cells.
Bone Marrow Aspiration, Biopsy and Cytogenetics

Performed

The aspirate was insufficient for evaluation.

The bone marrow biopsy was markedly hypocellular (only 20% cellularity) with a profound reduction in haematopoietic cells, with the marrow being largely replaced by fat cells. No malignant infiltration or fibrosis was seen.

Cytogenetic examination revealed a normal karyotype. Flow cytometry with anti-CD55 and anti-CD59 antibodies excludes paroxysmal nocturnal hemoglobinuria clones. PCR failed to detect the Ebstein-Barr virus (EBV) genome in BM nucleated cells.
HLA Typing

Performed

Identifies a sister with all 8 of 8 HLA matching.

Select Relevant Management
Transfuse Irradiated Blood Products
Bone Marrow Transplantation
Recombinant Erythropoietin
Prophylactic Antibiotics