Rosai Dorfman Disease: A Rare Case Report.

Abstract

To study the presentation and plan of treatment of patient with Rosai Dorfman Disease. Rosai-Dorfman disease(RDD), is rare, non-neoplastic, multisystemic histiocytic disorder. Nodal form is more common. It's self-limiting disorder of unknown etiology. Symptomatic treatment is mainstay. Bardet-Biedl syndrome (BBS) is rare ciliopathic, autosomal-recessive disorder, affecting multiple organs. Characterized by marked central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism and renal dysfunction. Treatment is symptomatic with hormone supplementation & regular follow-ups. 10year male presented with swelling over left side of neck and intermittent fever since 2years, diminished vision in night since 5years. History of similar complaints on right side 5years back. Fine needle aspiration cytology(FNAC)-features consistent with Rosai Dorfman Disease. Examination showed short stature, squint eyes, polydactyly. Multiple palpable neck nodes of variable sizes. Ophthalmic evaluation showed Retinitis Pigmentosa. Paediatric consultation for syndromic evaluation, features were consistent with Bardet Biedel syndrome. Since the presentation is same as that of opposite side in past, because of recurrence of symptoms even with regular antibiotic and steroid therapy, and no local recurrence of disease on right side, surgical excision is planned for the patient. Rosai-Dorfman disease and Bardet-Biedl syndrome are rare disorders presenting many diagnostic and therapeutic challenges. High degree of clinical suspicion (RDD & BBS) with typical histopathological features (RDD) are diagnostic. Symptomatic treatment is useful and surgical excision can be done for recurrent/ complicated cases of RDD while symptomatic treatment with regular follow-up for BBS.