研究罗塞·多夫曼病患者的表现和治疗方案。Rosai-Dorfman病(RDD),是罕见的,非肿瘤性,多系统组织细胞疾病。节点形式较为常见。病因不明的自限性障碍。对症治疗是主要的。Bardet-Biedl综合征(BBS)是罕见的纤毛病,常染色体隐性遗传疾病,影响多个器官。以明显的中心性肥胖为特征,视网膜营养不良,多指,智力迟钝,性腺功能减退和肾功能不全。治疗是有症状的激素补充和定期随访。10岁男性出现颈部左侧肿胀,2年后出现间歇性发热,5年以来夜间视力下降。5年前右侧类似投诉的历史。细针抽吸细胞学(FNAC)-特征与RosaiDorfman病一致。检查显示身材矮小,斜视的眼睛,多指。可变大小的多个可触及的颈淋巴结。眼科评价显示色素性视网膜炎。综合征评估的儿科咨询,特征与BardetBiedel综合征一致.由于呈现与过去相反的一面相同,因为即使使用常规抗生素和类固醇治疗,症状也会复发,右侧没有局部疾病复发,计划为患者进行手术切除。Rosai-Dorfman病和Bardet-Biedl综合征是罕见的疾病,存在许多诊断和治疗挑战。具有典型组织病理学特征(RDD)的高度临床怀疑(RDD和BBS)是诊断性的。对症治疗是有用的,对于RDD的复发/复杂病例,可以进行手术切除,而对症治疗并定期随访BBS。
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. 10 year male presented with swelling over left side of neck and intermittent fever since 2 years, diminished vision in night since 5 years. History of similar complaints on right side 5 years 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.