Clinical history The patient is a young child with short stature and a hypoplastic thumb presents with a history of cough and worsening fatigue over the last three weeks. He was born to a non-consanguineous couple via spontaneous vaginal delivery to a 42-yearl old mother. He was seen in clinic one week prior and diagnosed with acute otitis media and prescribed amoxicillin which resolved his ear pain but failed to resolve a cough.
A panel including a CBC, electrolytes, BUN, creatinine, T4 and TSH, glucose, HbA1c, and urine dipstick were sent. His CBC is as follows, with the rest of the panel within normal limits (image 1): An infectious panel including EBV, CMV, HAV, HBV and HCV were sent and found to be negative. The patient was scheduled for a bone marrow biopsy which showed 20-30% cellularity, markedly decreased megakaryoblasts and no evidence of increased blasts or any other…
