Marelli Luca, Dallos Tomáš, Miserocchi Elisabetta, Nucci Paolo, Tombolini Beatrice, De Lucia Orazio, Gattinara Maurizio, Caporali Roberto, Marino Achille
Eye Clinic San Giuseppe Hospital, IRCCS Multimedica Scientific Institute, Milan, Italy.
Second Department of Pediatrics, Comenius University Medical School, Bratislava, Slovakia.
Front Pediatr. 2023 Mar 17;11:1102382. doi: 10.3389/fped.2023.1102382. eCollection 2023.
Prader-Willi syndrome (PWS) is a multisystemic genetically determined disorder. Musculoskeletal manifestations are common in most patients. We report the cases of two children with PWS who developed inflammatory arthritis, complicated with chronic anterior bilateral uveitis in one case. To our knowledge, no previous reports of such an association exist.
Case 1 was of a 3-year-old girl diagnosed with PWS who developed arthritis of the right knee with morning stiffness, joint swelling, and limited range of motion. Other causes of arthritis were ruled out. Increased inflammatory markers, antinuclear antibody (ANA) positivity, and hypertrophic synovitis on ultrasound confirmed the diagnosis of inflammatory arthritis compatible with juvenile idiopathic arthritis (JIA). Despite the treatment with methotrexate, arthritis progressed, and etanercept was added. The patient reached and maintained articular remission while on combined MTX and etanercept treatment during 9 years of follow-up. Case 2 was of a 6-year-old boy diagnosed with PWS who developed arthritis of the right knee. Laboratory investigations showed mildly increased acute phase reactants, microcytic anemia, and ANA positivity at high titer (titer 1:1,280). Infectious and other causes of arthritis were excluded. Ultrasound confirmed the presence of joint effusion and synovial thickening, and synovial fluid analysis was consistent with inflammatory arthrosynovitis (white blood cell count of 14,200/µl) compatible with JIA. Shortly after the diagnosis, the ophthalmologic evaluation revealed the presence of bilateral anterior uveitis. Despite MTX and topical corticosteroid, ocular inflammation persisted and adalimumab was added. At the last follow-up, 9 months later, the child experienced inactivity of arthritis and uveitis with normal growth.
We aim to raise awareness of this possible association among pediatricians since arthritis might be underestimated due to high pain tolerance, behavioral disturbances, and other musculoskeletal abnormalities in PWS patients.
普拉德-威利综合征（PWS）是一种由基因决定的多系统疾病。大多数患者都有肌肉骨骼方面的表现。我们报告了两例患有PWS的儿童病例，其中一例并发了炎症性关节炎，并伴有慢性双侧前葡萄膜炎。据我们所知，此前尚无此类关联的报道。
病例1为一名3岁女孩，被诊断为PWS，出现右膝关节炎，伴有晨僵、关节肿胀和活动范围受限。排除了其他导致关节炎的原因。炎症指标升高、抗核抗体（ANA）阳性以及超声显示的滑膜肥厚，证实了与幼年特发性关节炎（JIA）相符的炎症性关节炎诊断。尽管使用甲氨蝶呤进行治疗，但关节炎仍有进展，随后加用了依那西普。在9年的随访期间，患者在联合使用甲氨蝶呤和依那西普治疗时达到并维持了关节缓解。病例2为一名6岁男孩，被诊断为PWS，出现右膝关节炎。实验室检查显示急性期反应物轻度升高、小细胞贫血以及高滴度ANA阳性（滴度1:1280）。排除了感染性和其他导致关节炎的原因。超声证实存在关节积液和滑膜增厚，滑膜液分析与符合JIA的炎症性关节滑膜炎一致（白细胞计数为14,200/µl）。诊断后不久，眼科评估发现双侧前葡萄膜炎。尽管使用了甲氨蝶呤和局部皮质类固醇，但眼部炎症持续存在，随后加用了阿达木单抗。在9个月后的最后一次随访中，该患儿的关节炎和葡萄膜炎不再活动，生长正常。
我们旨在提高儿科医生对这种可能关联的认识，因为由于PWS患者的高疼痛耐受性、行为障碍和其他肌肉骨骼异常，关节炎可能被低估。
