Anterior and posterior uveitis associated with juvenile idiopathic arthritis -case report.

Anterior uveitis is the most common extra-articular manifestation in children diagnosed with Juvenile idiopathic arthritis (JIA). It is typically a non-granulomatous, chronic, and asymptomatic uveitis. The lack of acute symptoms often delays the diagnosis with the incidence of severe ocular complications. Chorioretinitis lesions have been described in only 1% of cases. The absence of fundus changes can be explained by the impossibility of performing fundoscopy through the cloudy ocular media, secondary to inflammation. A 7-year-old female with a 3-month history of painless reduced vision came to have an eye examination. An initial diagnosis of bilateral anterior granulomatous uveitis complicated with glaucoma and cataract was formulated. Because of the concomitant diagnosis of COVID-19 disease (same day as the eye examination), the child was hospitalized in a hometown COVID-19 patient ward, so both local and general treatment, monitorization, and investigations were discontinued. The following eye examination revealed the persistence of anterior uveitis, inflammatory glaucoma, cataract, and the appearance of band keratopathy. Fundoscopy revealed numerous disseminated lesions of choroiditis. Further examinations established JIA-associated uveitis diagnosis, so systemic corticosteroids were initiated followed by Methotrexate and Adalimumab. Monitoring with fundoscopy in a patient diagnosed with JIA-U is necessary to detect possible chorioretinal or vascular damage. Abbreviations: BVA = best visual acuity, CVA = corrected visual acuity, CS = corticosteroids, IOP = Intraocular pressure, JIA = Juvenile idiopathic arthritis, JIA-U = Juvenile idiopathic arthritis associated uveitis, LE = left eye, MTX = Methotrexate, OU = both eyes, OCT = Optical Coherence Tomography, RE = right eye, TNF = tumor necrosis factor.

Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).

Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients. Phenotypic and genotypic characterisation was carried out in 69 patients with GD type 1. Annual echocardiography and electrocardiography were performed to assess pulmonary pressure, morphology and function of the valves and electrocardiographic changes. Nine patients (13%) exhibited baseline echocardiographic signs suggesting PH. Mitral regurgitation was present in 33 patients (48%) and aortic regurgitation in 11 patients (16%). One patient presented aortic stenosis. Significant valvular dysfunction was diagnosed in 10% of patients. PH was associated with greater age (p < 0.001), longer time since splenectomy (p = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (p < 0.001). Electrocardiographic changes were present in five patients (7%).