RESUMO
BACKGROUND: This report delves into the diagnostic and therapeutic journey undertaken by a patient with Sneddon's syndrome (SS) and cerebral venous sinus thrombosis (CVST). Particular emphasis is placed on the comprehensive elucidation of SS's clinical manifestations, the intricate path to diagnosis, and the exploration of potential underlying mechanisms. CASE SUMMARY: A 26-year-old woman presented with recurrent episodes of paroxysmal unilateral limb weakness accompanied by skin mottling, seizures, and cognitive impairment. Digital subtraction angiography revealed CVST. Despite negative antiphospholipid antibody results, skin biopsy indicated chronic inflammatory cell infiltration. The patient was treated using anticoagulation, antiepileptic therapy, and supportive care, which resulted in symptom improvement. The coexistence of SS and CVST is rare and the underlying pathophysiology remains uncertain. This case underscores the challenge in diagnosis and highlights the need for early clinical differentiation to facilitate accurate assessment and prompt intervention. CONCLUSION: This article has reported and analyzed the clinical data, diagnosis, treatment, and prognosis of a case of SS with CVST and reviewed the relevant literature to improve the clinical understanding of this rare condition.
RESUMO
INTRODUCTION: Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome that occurs secondary to an underlying plasma cell disorder. The diagnosis of POEMS syndrome is 2 of the mandatory major criteria (polyneuropathy and monoclonal plasma cell disorder), 1 of the other major criteria (Castleman's disease, sclerotic bone lesions, or vascular endothelial growth factor elevation), and at least 1 of the minor criteria (organomegaly, extravascular volume overload, endocrinopathy, skin changes, papilledema, thrombocytosis, or polycythemia). However, some cases do not fully meet the diagnostic criteria, such cases are referred to as incomplete or atypical POEMS syndrome. PATIENT CONCERNS: A 58-year-old Chinese female was admitted to our department of neurology with weakness of both arms and legs. In addition,it's found that she had skin manifestations, lymphadenopathies, pedal edema, immunoglobin - A-λ restricted paraproteinemia, and elevated vascular endothelial growth factor and other features, but without polyneuropathy. DIAGNOSES:: we made a diagnosis of atypical POEMS syndrome without polyneuropathy. INTERVENTIONS: Two drug regimens were recommended: VAD (Vincristine, Adriamycin, Dexamethasone) and bortezomib. Finally, the VAD strategy was performed. OUTCOMES: The patient's limb strength and pain improved and enzyme parameters decreased gradually after 4 weeks. However, the treatment was still not perfect. CONCLUSION: We reported a rare case of POEMS syndrome without polyneuropathy. We hope similar cases will be reported in the future.
