Unexpected Death in a Young Child With Cogan Syndrome

A 4-year-old child presented with a recent history of loss of appetite, weight loss, lower limb myalgias, fatigue, and new-onset hearing loss. These symptoms were associated with persistent microcytic anemia, leukocytosis, thrombocytosis, hypergammaglobulinemia, and elevated erythrocyte sedimentation rate. Major oncological, hematological, gastrointestinal, rheumatological, immunological, and infectious conditions were ruled out. Suspecting an autoinflammatory disease, high-dose corticosteroids were initiated but without clinical improvement. Due to the severe inflammatory state in the absence of autoimmune or infectious causes, anakinra was started, resulting in only transient benefit. The patient subsequently developed uveitis, and Cogan syndrome (CS) was suspected. Infliximab was administered but with no improvement. Treatment was then switched to tocilizumab, which led to both clinical and laboratory improvement. After 1 year of good disease control, the patient unexpectedly died. Autopsy revealed extensive involvement of the coronary and aortic vessels, with polymorphic inflammatory infiltrates. Cogan syndrome is a rare vasculitis that can affect vessels of all sizes, typically involving both the ocular and cochleovestibular systems. It is extremely rare in children, with only about 50 cases reported and just 2 deaths previously described. Unfortunately, there are no international guidelines for the treatment and follow-up of pediatric patients with CS. This case represents an uncommon manifestation of CS in a child and highlights the urgent need for evidence-based guidelines for the diagnosis, management, and long-term monitoring of these patients.