Heart rate variability as a marker of autonomic dysfunction in children with primary Raynaud's phenomenon.

INTRODUCTION

Splenomegaly with focal splenic lesions represents a complex diagnostic entity, encompassing a broad spectrum of haematological, infectious, autoimmune, infiltrative and malignant disorders. Distinguishing benign from malignant pathology is particularly challenging when splenomegaly is accompanied by cytopenias and a rapidly progressive clinical course.

CASE DESCRIPTION: A 43-year-old woman presented with severe left upper quadrant abdominal pain and persistent vomiting. Physical examination revealed splenomegaly, and laboratory investigations showed pancytopenia. Abdominal ultrasonography, computed tomography scan and magnetic resonance imaging demonstrated a large heterogeneous splenic mass with progressive enlargement and mass effect on adjacent organs. 18F-fluorodeoxyglucose positron emission tomography scan showed no abnormal metabolic activity. Extensive laboratory evaluation and image-guided biopsy failed to establish a definitive diagnosis. Despite conservative management, the patient's clinical condition progressively deteriorated, with persistent symptoms and worsening hypersplenism. Owing to the ongoing diagnostic uncertainty and clinical deterioration, splenectomy was performed for both diagnostic and therapeutic purposes. Histopathological examination confirmed the diagnosis of splenic hamartoma.

CONCLUSION

This case highlights the limitations of non-invasive diagnostic modalities in the evaluation of large splenic masses and underscores the importance of considering rare benign entities in the differential diagnosis of clinically aggressive splenic pathology. In carefully selected patients with progressive symptoms and inconclusive investigations, splenectomy remains a valuable strategy to achieve diagnostic clarity and symptom control.

LEARNING POINTS: Splenomegaly associated with focal splenic lesions and pancytopenia poses a major diagnostic challenge due to substantial overlap between benign and malignant conditions.In symptomatic patients with progressive clinical deterioration and persistent diagnostic uncertainty, splenectomy can be both diagnostic and therapeutic.Splenic hamartomas are rare benign lesions that may present with non-specific symptoms and features of hypersplenism.