E49 Behçet's disease associated with Warkany syndrome: a case report

Abstract

Abstract Background Behçet's disease is a rare chronic, relapsing, multisystem vasculitis characterized by mucocutaneous lesions, articular, ocular, vascular, and central nervous system manifestations, of which pediatric forms may be syndromic. Warkany syndrome is a rare genetic anomaly defined by trisomy 8, characterized clinically by facial dysmorphia, mild intellectual disability, and skeletal anomalies. Aim We report the case of a 9-year-old boy diagnosed with Behçet's disease and whose examination revealed an associated Warkany syndrome. Observation the boy was from a non-consanguineous marriage, correctly vaccinated, with a history of congenital dislocation of the hip operated at the age of 3 years and obstruction of the lacrimal duct operated at the age of 6 years, who presented with chronic bilateral synechial pan uveitis, recurrent oral aphthosis (>3 times a year), multiple dysostosis with chronic diffuse arthralgias: hip, knees, shoulders. The clinical examination reveals a facial dysmorphia (elongated skull, high and prominent forehead, hypertelorism, sunken eyes, wide nose with anteverted nostrils, micrognathia with eversion of the lower lip, large ears with a thick rim), organomegaly (hepatosplenomegaly, large kidneys), a moderate intellectual deficit and deep palmar and plantar folds Auditory evoked potential finds bilateral deafness. Inflammatory workup was positive, HLAb51 typing was positive. MPS enzyme assay is normal. Genetic study: not done due to lack of means. Conclusion Behçet's disease in children can be associated with other genetic syndromes, it remains to be seen if it is a simple fortuitous association.