scholarly journals Psoriatic Juvenile Idiopathic Arthritis Associated with Uveitis: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Davide Moretti ◽  
Ilaria Cianchi ◽  
Gaia Vannucci ◽  
Rolando Cimaz ◽  
Gabriele Simonini

According to the definition proposed by the International League of Associations for Rheumatology (ILAR), juvenile idiopathic arthritis (JIA) is defined as an arthritis of unknown etiology, starting under 16 years of age and lasting for at least 6 weeks, once other known conditions have been excluded. JIA represents the most common chronic rheumatic disease of childhood and is considered an important cause of short- and long-term acquired disability in children. It is currently estimated that psoriatic JIA represents up to 10% of all JIA subtypes, and chronic uveitis may occur in 10 to 15% of children with psoriatic JIA. In this report we describe a case of psoriatic JIA complicated by uveitis, in a child failing previous treatments with nonsteroidal anti-inflammatory drugs, methotrexate, and etanercept. Finally, adalimumab was prescribed, which led to sustained clinical remission in both arthritis and uveitis.

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Vana Vukić ◽  
Ana Smajo ◽  
Mandica Vidović ◽  
Rudolf Vukojević ◽  
Miroslav Harjaček ◽  
...  

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.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ting Ting Zhu ◽  
Jin Wu ◽  
Li Yuan Wang ◽  
Xiao Mei Sun

Abstract Background Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented. Case presentation The girl was diagnosed with PKU at the age of 1 month confirmed by molecular data. At the age of 3.5 years, she presented with pain and swelling of her right ankle, right knee, and right hip joint. After a serial of examinations, she was diagnosed with JIA and treated with a nonsteroidal anti-inflammatory drug. Conclusions We report a rare case of a 4-year-old girl with PKU and JIA, which supports a possible interaction between PKU and JIA. Long-term metabolic disturbance may increase the susceptibility to JIA. Further chronic inflammation could alter the metabolism of tryptophan and tyrosine to increase blood Phe concentration. In addition, corticosteroid and methotrexate therapy for JIA may increase blood Phe concentration.


2020 ◽  
Vol 8 ◽  
pp. 232470962095328
Author(s):  
Toshihiko Matsuo ◽  
Masato Yashiro

Juvenile idiopathic arthritis–associated uveitis is rare in the Japanese population. In this article, we report a child whose macular edema was controlled for years after cataract surgery with adalimumab, and reviewed 26 Japanese patients in the literature. In this case report, a 4-year-old boy developed band keratopathy, posterior iris synechiae, and complicated cataract in both eyes. Oral prednisolone prescribed at another hospital was discontinued due to high intraocular pressure in both eyes as a steroid responder. At the age of 5 years, he started oral methotrexate 8 mg weekly for recurrent bilateral iridocyclitis and then underwent lensectomy with core vitrectomy in both eyes. Planned intraocular lens implantation was cancelled at surgery because the anterior vitreous had severe inflammatory opacity with diffuse retinal edema in both eyes. Due to persistent macular edema in both eyes 5 months postoperatively, at the age of 6 years, he began to use adalimumab injection 20 mg every 2 weeks. The macular structure depicted by optical coherence tomography became normal in 2 months. At final visit at the age of 11 years, he had the best-corrected visual acuity of 0.8 in the right eye and 0.4 in the left eye, with adalimumab 40 mg every 2 weeks and methotrexate 8 mg weekly. In conclusion, macular edema persistent despite oral methotrexate after cataract surgery could be controlled for long term by adalimumab in a child with juvenile idiopathic arthritis. In the Japanese literature, only 26 additional cases with juvenile idiopathic arthritis–associated uveitis have been reported so far.


Sports ◽  
2018 ◽  
Vol 6 (3) ◽  
pp. 82 ◽  
Author(s):  
Majid Syed-Abdul ◽  
Dhwani Soni ◽  
Jason Wagganer

Low caloric intake or excessive energy expenditure can lead to a negative energy balance, which, in female athletes, may result in a condition called the female athlete triad. While several guidelines identified proper nutrition as a first line of treatment, little research has been reported to show the effect of a professional nutrition program (PNP) on the female athlete triad. The purpose of this case report was to measure the short- and long-term effects of a PNP on a female athlete presenting triad characteristics. A 20-year-old female track-and-field athlete at a Division I university who was in negative energy balance and amenorrheic underwent a one-month PNP. Short- and long-term effects measured by a dual X-ray absorptiometry scan prior to and after attending a PNP showed increased total energy intake from 2188 kcals to 3187 kcals, which resulted in an increase in body fat percent (BF%) from 4.7% to 6.7%. However, by the end of four months, energy intake and BF% (5.7% and 6.0%) values were reduced, respectively. After the twelve-month follow-up, BF% was increased (10.5%), suggesting that increasing energy intake to meet energy demands, without compromising athletic training, can be an effective treatment for the female athlete triad.


Author(s):  
Mario Ortiz

  Background: Supernumerary teeth are an infrequent developmental alteration causing alteration in normal arch form and occlusion. Multiple supernumerary teeth can be associated with some syndromes. However, it can be present in patients without any systemic pathology. Dens invaginatus is a dental developmental variation resulting from an alteration in the normal growth pattern of the dental papilla of a tooth. Cone Beam Computered Tomography (CBCT) could be used to diagnosis supernumerary tooth and dens invaginatus. Case report: A case of a 10-year-old girl with multiple supernumerary teeth without syndromic association is presented. A rare association with dens invaginatus was present. Supernumerary teeth were located in maxilla and mandible and cause severe tooth displacement and lip incompetence. Discussion: Hyperodontia is a number dental alteration of unknown etiology with a prevalence that varies between 0.1 and 3.8%. Dens in dente is a dental shape alteration of unknown etiology with variable prevalence depending on the population. This alteration puts the integrity and health of the affected tooth at risk. Early diagnosis is important in the long-term prognosis. Radiological tools are the appropriate option for diagnosis and are shown in this article.


Author(s):  
PATHAN AMANULLA KHAN ◽  
SARAH NOUSHEEN BB ◽  
ASFIYA BEGUM ◽  
RAQSHAN JABEEN ◽  
YOUSUF HUSSAIN

Systemic-onset juvenile idiopathic arthritis (SoJIA) is a rare form of juvenile idiopathic arthritis (JIA) which manifests as quotidian fevers and arthritis in one or more joints. Features include characteristic salmon pink-colored rash associated with lymphadenopathy, hepatosplenomegaly, and serositis. To the best of our knowledge, this is a rare form of JIA in India and very few cases without multiorgan involvement have been published in literature. The following case reports a 12-year-old male child who presented to the hospital with a history of spiking fevers and arthritis in the knees, ankle, and hip joints. Diagnosis of SoJIA was confirmed after subsequent laboratory investigations; treatment included long-term nonsteroidal anti-inflammatory drugs, and methotrexate. However, due to increased cost of medicines and no guaranteed “cure” for the disease, the present patient switched from allopathic to homeopathic medicines. He still experiences frequent flare-ups associated with the disease, during which aceclofenac is taken for symptom relief. This case also highlights the importance of a “cure” for diseases rather than “symptom-oriented” treatment measures. When a cure is not guaranteed, patients may transition to inexpensive alternate therapies portraying limited efficacy. Further research in the field of rheumatology, specifically for rare diseases, is warranted.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Anjumanara Anver Omar ◽  
Salman Ahmed ◽  
John Chris Rodrigues ◽  
Allan Kayiza ◽  
Lawrence Owino

Abstract Background Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalities, short stature, early osteoarthritis, and osteoporosis. Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood and has unknown etiology. Clinical features of progressive pseudorheumatoid dysplasia resemble those of juvenile idiopathic arthritis. Patients with progressive pseudorheumatoid dysplasia are usually misdiagnosed as having juvenile idiopathic arthritis. Case presentation A 13-year-old Yemeni female presented to the rheumatology clinic with a history of joint pains, bone pains, and bone deformity for 7 years. Weight and height were below the third percentiles. There was no tender swelling of metacarpophalangeal and interphalangeal joints, and she presented with scoliosis. Radiographs of the hands revealed the widening of the epiphyses. Progressive pseudorheumatoid dysplasia was suspected, and genetic testing for WNT1-inducible signaling pathway protein 1, 2, and 3 was requested with these findings. A homozygous, likely pathogenic variant was identified in the WNT1-inducible signaling pathway protein 3 gene, which confirmed our diagnosis. Conclusion Progressive pseudorheumatoid dysplasia is a rare form of spondyloepimetaphyseal dysplasia and is clinically misdiagnosed as juvenile idiopathic arthritis. It is crucial to consider progressive pseudorheumatoid dysplasia, especially in patients with standard inflammatory markers who are being followed up for juvenile idiopathic arthritis and not improving with antirheumatic intervention.


2013 ◽  
Vol 26 (2) ◽  
pp. 103-113
Author(s):  
Şirin Nevzatoğlu ◽  
Evin Koç ◽  
Toros Alcan ◽  
Zeki Güzel

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