COEXISTENCE OF GOLDENHAR SYNDROME WITH JUVENILE IDIOPATHIC ARTHRITIS: A CAUSAL LINK OR MERE COINCIDENCE?

Abstract

Goldenhar syndrome, a rare congenital anomaly primarily affecting the face, external ear and vertebrae, and juvenile idiopathic arthritis (JIA), a chronic inflammatory disease in children under 16, represent distinct and uncommon clinical entities. We report the case of a five-and-a-half-year-old girl, with a history of treated congenital hip dislocation, admitted for persistent joint pain for over 6 months, affecting both knees, wrists and ankles with inflammatory signs without associated visceral manifestations. Clinical examination revealed a dysmorphic facies characteristic of Goldenhar syndrome, including facial asymmetry with mandibular hypoplasia, auricular anomalies such as a bilateral pre-tracheal appendix, an acrochordon on the right cheek, a pre-auricular sinus, microtia, and a closed right external auditory canal. A lumbar scoliosis was also identified on dorsolumbar spine imaging, with a CT scan of the rock that objectified an imperforation of the right external auditory canal and lack of visualization of the tympanic membrane, consolidating the diagnosis of Goldenhar syndrome.Biologically, the patient presented with inflammatory anemia with a moderate inflammatory syndrome, as well as hypergammaglobulinemia detected by protein electrophoresis. Tests for antinuclear antibodies and rheumatoid factor were negative (15 IU/mL). X-rays of the affected joints were taken, and the diagnosis of Idiopathic Juvenile Arthritis was retained after eliminating all differential diagnoses. This unusual coexistence raises complex diagnostic and therapeutic challenges, requiring a multidisciplinary approach and ongoing surveillance for comprehensive management.