Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome

Abstract

Background: The last two decades brought new treatment options and high quality guidelines into the paediatric rheumatologic practice. Nevertheless, a number of patients still present a diagnostic and therapeutic challenge due to combination of vague symptoms and unresponsiveness to available treatment modalities.

Case presentation: We report a case of sixteen years old girl suffering from polyarticular type of juvenile idiopathic arthritis refractory to multiple treatment options. She first presented at the age of 4 with swelling and contractures of both knees. Her symptoms were initially unresponsive to nonsteroidal anti-inflammatory drugs and progressed despite treatment with intraarticular and systemic glucocorticoids and methotrexate. Throughout the years, she received several biologics together with continuous administration of nonsteroidal anti-inflammatory drugs and disease modifying anti-rheumatic drugs as well as intraarticular and systemic glucocorticoids in disease flares. However, none of this options provided a permanent remission, so various other modalities, as well as other possible diagnoses were constantly being considered. Eventually she became dependent on a daily dose of systemic glucocorticoids. In 2018, the treatment with Janus kinase inhibitor tofacitinib was initiated, which led to gradual amelioration of musculoskeletal symptoms, improvement of inflammatory markers and overall well-being, as well as to the weaning of systemic glucocorticoids. As the swelling of the wrists subsided for the first time in many years, Madelung's deformity was noticed, first clinically, and later radiographically as well. Genetic analysis revealed short-stature homeobox gene deficiency and confirmed the diagnosis of Leri Weill syndrome.

Conclusions: This case report emphasizes the need for reporting refractory, complicated cases from everyday clinical practice in order to build-up the overall knowledge and share experience which is complementary to available guidelines. Individual reports of difficult to treat cases, especially when additional diagnoses are involved, can be helpful for physicians treating patients with common rheumatological diseases such as juvenile idiopathic arthritis.

Keywords: Case report; Juvenile idiopathic arthritis; Leri Weill syndrome; Madelung deformity; Tofacitinib..

Fig. 1

Schematic representation of treatment modalities during the time. 2007 – 2020 - the period of treatment, NSAID - nonsteroidal anti-inflammatory drug, IFX - infliximab, ADA - adalimumab, TOC - tocilizumab, ETC - etanercept, DMARD - disease modifying anti-rheumatic drug, MTX - methotrexate, CFM - cyclophosphamide, RTX - rituximab, MTF - metformin, MMF - mycophenolate mofetil, CYC - cyclosporine, TFA - tofacitinib, p.o. - per os, i.a. - intraarticular, i.v. - intravenous, GC - glucocorticoids

Fig. 2

The anteroposterior radiograph of left hand at the age of 14. Note the increased volar angulation of distal radius, wedge shaped carpus with proximally positioned lunate and a characteristic notch on the distal radius (white arrow), which are the features of the Madelung deformity [12]

Fig. 3

The anteroposterior radiograph of both hands at the age of 10 (a) and 13 (b), and of the left hand at the age of 14 (c). Note the bowing of the distal radius, an increased radial inclination (~ 30°) with the deformation of the carpus that acquired a triangular appearance and widening of the distal radial-ulnar joint bilaterally, which are the typical features of Madelung deformity. Dorsal subluxation of the ulnar head is not seen as lateral images of the wrist were not taken. Osteopenia of carpal bones and periarticular osteopenia of MCP, PIP and DIP joints related to JIA are present. No relevant changes are observed during the time

Fig. 4

MRI coronal T1-weighted (a), proton density BLADE fluid sensitive sequence (b), post contrast T1-weighted coronal fat sat sequence (c) and post contrast T1-weighted axial fat sat sequence (d) images of both hands at the age of 13. Note the radiotriquetral ligament (red arrow) and Vickers ligament (green arrow) (a, b). Note the inflammatory changes characterized by postcontrast imbibition in carpal joints and MCP joints (red circle), as well as tenosynovitis of flexor tendons related to JIA, more prominent on the left hand (c, d)