Atypical evolution of a Vaso-Occlusive presentation in Sickle Cell Disease: lessons in diagnostic vigilance

Acute deterioration following an apparently uncomplicated vaso-occlusive episode in sickle cell disease poses significant diagnostic challenges. When respiratory failure, neurological impairment, and progressive cytopenias develop abruptly, distinguishing between infectious, inflammatory, and thrombotic mechanisms becomes critical.

We describe a 20-year-old woman with sickle cell/thalassaemia admitted for severe limb pain consistent with vaso-occlusion. Within 24 hours, she developed acute respiratory failure, encephalopathy, and thrombocytopenia requiring intensive care support. Initial management targeted presumed sepsis. However, evolving laboratory abnormalities including disproportionate lactate dehydrogenase elevation, extreme hyperferritinaemia, and marked peripheral erythroblastosis without schistocytosis , prompted reconsideration of the differential diagnosis.

Brain magnetic resonance imaging revealed a characteristic pattern supported by futher assessment such as  bronchoalveolar lavage and bone marrow biopsy establishing the final diagnosis.

Treatment with red cell exchange and therapeutic plasma exchange was followed by progressive haematological and neurological recovery.

This case underscores the importance of stepwise diagnostic reasoning in sickle cell disease and highlights how dynamic laboratory interpretation and early referral to specialised centres may be decisive in rare but life-threatening complications.