Abstract:
Background: Rosai-Dorfman Disease (RDD) is a rare condition often regarded as a benign histiocytic disorder that predominantly affecting children and young adults. Clinical presentation of RDD can mimic malignancy, making timely diagnosis and accurate management crucial.
Case Presentation: A 3-year-old Caucasian male presented to our Paediatric centre with a history of one-month progressively enlarging bilateral cervical lymphadenopathy. The patient was otherwise clinically well with no constitutional symptoms apart from a history of intermittent hoarseness associated with frequent viral infections. Physical examination revealed enlarged bilateral submandibular and cervical lymph nodes with no evidence of hepatomegaly or splenomegaly.
Laboratory investigations showed severe lymphopenia, specifically marked T-cell lymphopenia. Radiological scanning revealed extensive cervical lymphadenopathy along with mediastinal widening, which initially raised suspicion for malignancy. A biopsy of enlarged cervical lymph nodes confirmed a diagnosis of RDD. Bone marrow aspirate was normal while genetic testing is still pending to explore potential underlying immunodeficiency.
Prophylaxis co-trimoxazole was commenced and live vaccines were withheld. The patient has been regularly reviewed by multidisciplinary team, involving immunologists and oncologists. This case was reviewed by the National UK Histiocytosis Advisory Panel, which recommended conservative management with close monitoring and considering corticosteroid therapy upon disease progression.
Conclusion: This case emphasises the importance of considering RDD in the differential diagnoses of paediatric presentations with lymphadenopathy with mediastinal involvement. It highlights the diagnostic challenges and the value of multidisciplinary approach in managing this rare disease.
