High-dose Oral Steroids Research Articles

7726 Central Adrenal Insufficiency From Inhaled Mometasone Manifesting As Growth Deceleration

Abstract Disclosure: S. Gurnurkar: None. F.I. Cooper: None. Introduction: While long courses and/or high-doses of oral steroids have been found to cause adrenal suppression and resultant insufficiency, inhaled corticosteroids from asthma management typically do not affect cortisol production. However, in this case, we describe a patient who presented with 3 years of growth deceleration and was found to have adrenal suppression from her inhaled corticosteroid/long-acting beta agonist, Dulera (mometasone furoate and formoterol fumarate). Case Presentation: An 11-year-old female with history of moderate persistent asthma presented to our endocrinology department with growth deceleration and resultant short stature. The parent noted that the child started to decelerate in height percentiles from the 50th percentile at age 8 to the 6th percentile at age 11. BMI gradually rose from the 85th to 95th percentiles. The parent noted that the child started having worsening asthma symptoms around the start of the growth deceleration, requiring a handful of oral steroid courses and the addition of daily inhaled corticosteroid, Dulera. She had remained on the Dulera for the previous three years, with her asthma under good control. She also took cetirizine daily and albuterol as needed. The last course of oral steroids was three months prior to her first endocrinology visit. The patient’s mid-parental target height was at the 50th percentile and she denied fatigue, headache, or abdominal pain. Family history was negative for endocrine conditions and short stature. Puberty began at age 10. Further workup was recommended. A bone age was concordant with chronologic age. Initial labs including a TSH, free T4, IGF-1, IGFBP-3, CBC, ESR, and CMP were within normal limits. A growth hormone stimulation test with arginine and clonidine was performed. Growth hormone peak was 11 ng/mL, but, interestingly, cortisol resulted as <1.0 ug/dl throughout the test. Due to concerns of adrenal insufficiency, she underwent a high dose ACTH stimulation test. Initial ACTH was 6.3 pg/mL (ref 6-48 pg/mL) and cortisol remained at <1.0 ug/dl at 0, 30, and 60 mins. She was diagnosed with central adrenal insufficiency and prescribed 11 mg/m2 BSA/day of hydrocortisone divided three times daily, with stress dosing and emergency hydrocortisone injection instructions. Conclusion: The existing literature suggests that Dulera (mometasone furoate and formoterol fumarate) does not significantly influence adrenal function nor growth velocity. However, we present the case of a child with 3 years of inhaled Dulera use and significant central adrenal insufficiency. This case report is the first of its kind to detail decreased adrenal function with Dulera in particular. Presentation: 6/2/2024

Laryngeal Granuloma Reduction Following Treatment With High-Dose Oral Steroids.

Laryngeal Granuloma Reduction Following Treatment With High-Dose Oral Steroids.

Looking beyond blurred margins

A 60-year-old man presented to an outside ophthalmology clinic with 1 month of progressive vision loss in the right eye (OD). Right optic disc edema was noted. Brain and orbit magnetic resonance imaging revealed right optic nerve and left occipital lobe enhancement. He was seen initially by neurology and neurosurgery and subsequently referred to neuro-ophthalmology for consideration of optic nerve biopsy. He was seen 3 months after his initial symptom onset where vision was light perception OD and a relative afferent pupillary defect with optic nerve edema. OS was unremarkable. A lumbar puncture with flow cytometry was negative for multiple sclerosis and lymphoma. At his oculoplastic evaluation for optic nerve biopsy, his vision was noted to be no light perception OD. Optic nerve biopsy demonstrated non-caseating granulomatous inflammation consistent with neurosarcoidosis. The patient was started on high-dose oral steroids with improvement of disc edema, as well as significant improvement in optic nerve and intracranial parenchymal enhancement, although his vision never improved.

Sympathetic Ophthalmia in Paediatric Post-Surgical Repair, A Case Report

Introduction : Sympathetic Ophthalmia (SO) is a rare and devastating complication of ocular trauma. Incidence reached 0.26% among cohort in paediatric open globe injury. We present a case report of pediatric Sympathetic Ophthalmia.
 Case Illustration : An 8-year-old boy is present in an outpatient clinic with a history of corneal lacerating injury on LE 1 month ago and had surgical repair 7 days after the injury. The patient complained of redness and blurry vision in both eyes. VA RE 0.5 and LE 0.05. RE revealed ciliary injection, flare/cell (f/s) +2/+2, and vitreous cell +1. LE revealed ciliary injection, corneal scars, f/s +2/+2, and vitreous cell +2 (Fig. 1). Fundus and OCT revealed macular oedema with exudative retinal detachment RE and bilateral optic nerve head swelling (Fig. 2). Patient was diagnosed with sympathetic ophthalmia and treated with prednisolone acetate 8x per day for RLE with high-dose oral steroid methylprednisolone 1 mg/kg body weight (32 mg). One week after treatment, clinical findings were improved, and the steroid was tapered. After 2 months f/s, macular oedema, exudative retinal detachment and optic nerve head swelling were resolved with VA RE 1.0 and LE 0.4.
 Discussion : Although the etiology of SO is currently unknown, it is believed that hypersensitivity following trauma to the fellow eye may be the trigger. The severity of SO's clinical presentation might range from mild to severe.
 Conclusion : Sympathetic ophthalmia is a serious complication that rarely occurs after trauma, especially in the pediatric population. Prompt treatment of oral and topical corticosteroids may lower the inflammatory response.

The Japanese Clinical Guidelines 2022 for Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome: An Overview

The new Japanese clinical guidelines for myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) were published in 2022. The Following are the salient features of these guidelines (GLs): (1)These are the first Japanese GLs that include a description of LEMS. (2)Diagnostic criteria for both MG and LEMS are described. (3)A high-dose oral steroid regimen with an escalation and de-escalation schedule is not recommended. (4)Refractory MG is defined. (5)The use of molecular-targeted drugs is included. (6)MG is subcategorized into six clinical subtypes. (7)Treatment algorithms for both MG and LEMS are discussed.

Bacillary Layer Detachment as a Presenting Feature of Ocular Sarcoidosis.

Bacillary layer detachment (BALAD) is a recently described finding on optical coherence tomography (OCT) that has been reported in a variety of uveitic and retinal diseases. To add to the growing literature on conditions associated with this finding, we report on the first cases of BALADs in ocular sarcoidosis. Observational, retrospective chart review of patients with BALADs as a feature of sarcoid-associated uveitis. Three patients presented with blurry vision and bacillary layer detachments on OCT who were either known to have or found to have sarcoid-associated uveitis. All three patients had resolution of the BALAD and improvement in visual acuity with a combination of high-dose oral steroids and/or systemic immunosuppression. Patients presenting with BALAD should be assessed for sarcoidosis, if appropriate, given the systemic implications of this diagnosis. [Ophthalmic Surg Lasers Imaging Retina 2023;54:686-690.].

Suboptimal management of rheumatoid arthritis in France: a real-world study based on data from the French National Health Data System

ObjectivesThe emergence of targeted therapy is changing rheumatoid arthritis (RA) management, but real-world data remain limited. This study aimed to describe real-world RA treatment patterns using data from a French...

Planning and effectiveness of intensive rehabilitation as a treatment for a patient with neurosarcoidosis: A case report.

Neurosarcoidosis tends to prolong the duration of treatment and may result in a decline in physical function requiring rehabilitation. Because of a rare disease, the adjustment of oral steroid dosage, which is the cornerstone of treatment, is highly dependent on professional experience in general. Therefore, the number of hospitals that can perform dosage adjustment is very limited, and it is difficult to provide concurrent intense rehabilitation at the same hospital over a long period of time, and there are no reports that mention this. A 49-year-old man, who presented with impaired consciousness, dysphagia and right hemiplegia, was diagnosed with neurosarcoidosis based on a previous diagnosis of sarcoidosis, laboratory test results, and clinical symptoms. High-dose oral steroid therapy was initiated and he was transferred to our rehabilitation hospital for progressive disuse approximately 2 months after the disease onset. This case was diagnosed as "probable" neurosarcoidosis. The steroid dose was not reduced during rehabilitation treatment in our hospital considering the risk of relapse of the primary disease due to steroid reduction. His training regimen focused on minimum activities of daily living was performed, and its effectiveness was determined during approximately 60 days after the initiation of rehabilitation. Two months after admission, he was independently eating, transferring, and toileting under supervision. He was discharged home 3 months after admission. Intensive rehabilitation can be one of the effective comprehensive treatment strategy for patients with neurosarcoidosis. On the other hand, since there is no consensus treatment method, the duration of rehabilitation and goal setting should be adjusted based on an understanding of the characteristics of the disease and the overall treatment plan.

PA32 Severe lichen planus with co-localization of vitiligo: a rare and unusual case

Abstract A 13-year-old boy was seen in the urology clinic for hypo­pigmented patches on the glans penis. He underwent circumcision for presumed balanitis xerotica obliterans, but histological examination of the skin showed lichen planus (LP). This prompted a full skin check by the team, which showed similar patches on the scrotum, anus and ears. A referral was made to dermatology for further assessment. Closer history revealed a 1-year history of inflamed patches behind the ears that spread to the periorbital and penile regions. Concurrent patchy hair loss was noted over this time period; otherwise, he was asymptomatic, with no relevant past medical or family history. Full skin check revealed extensive areas of well-circumscribed erythema on the penis, peri-orbitally and within the conchal bowl of both ears. Areas of scarring alopecia were present with complete loss of the eyelashes. The severity of his condition warranted the immediate commencement of high-dose oral steroid therapy and a trial of protopic 0.1% ointment. A review 6 months later showed no further erythema but areas of clearly defined depigmentation where there was previously active LP, particularly across the nose and periorbitally, consistent with vitiligo. Ongoing follow-up at 1 year showed the stable appearance of these areas, despite ongoing use of topical calcineurin inhibitor. Co-localization of vitiligo in the context of LP is a rare entity, noted in only 10 case reports in the literature. The fact that both LP and vitiligo are common, each said to affect 1–2% of the general population, may mean that their association is merely a coincidence. However, a number of publications suggest that a causal link must be present as similar immunological mechanisms are shared by the two conditions. The aetiology of both LP and vitiligo is known. Various theories exist, including the autoimmune hypothesis, as both conditions are immunologically mediated. Another assumes inflammatory mediator release from ultraviolet damage, particularly on areas of photosensitive depigmented skin. A third supposes that photodamage induces Koebner phenomenon on vitiligo-affected skin, resulting in LP on these areas. No theory has been proven definitively. In most cases, vitiligo is described as the precursor disease; rarely, both diseases occur concomitantly and progress together. We present a rare case of LP preceding vitiligo. Our case not only demonstrates the importance of a full skin examination in diagnosing lesions, but provides further evidence that this association is more than coincidental. More studies into these conditions are needed to understand this phenomenon in its entirety.

Therapeutic Strategies for Myasthenia Gravis

For years, the treatment of myasthenia gravis (MG) included high-dose oral steroids. This improved the mortality rate, but the adverse aspects of this treatment have become apparent. To overcome these statuses, an early fast-acting treatment strategy was advocated in the 2010s. Although this strategy improved the patients' quality of life, there are still many patients experiencing impaired activities of daily living. A certain number of so-called "refractory MG" patients also exist. Molecular-targeted drugs for MG have recently been developed. To date, three such drugs are available in Japan.

Paraneoplastic Neurologic Syndromes with ANNA-2/anti-Ri: a Contrasting Story of Two Cases (P5-5.026)

Paraneoplastic Neurologic Syndromes with ANNA-2/anti-Ri: a Contrasting Story of Two Cases (P5-5.026)

E032 Deficiency of Adenosine Deaminase 2: a rare diagnosis in a case of suspected vasculitis

Abstract Background/Aims Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive condition first described in 2014 which is characterised by vasculitis, systemic inflammation, immunodeficiency and cytopenias. The vasculitis is difficult to differentiate from polyarteritis nodosa and typically presents with recurrent strokes. It can also affect the skin and present with livedo racemosa. Clinical presentation varies widely; from vasculitic manifestations which tend to present later in life to severe haematological abnormalities such as bone marrow failure which tend to present earlier in life. Treatment with TNF inhibitors reduces the risk of additional strokes and controls inflammation in the presence of vasculitis but is not very effective against bone marrow failure. Methods We present the case of a 44-year-old gentleman who was being investigated for possible vasculitis by the rheumatology team in view of a history of Raynaud’s, 20-year history of recurrent leg ulcers and a previous pontine infarct. He presented acutely to the emergency department with numbness below the midthoracic level, weakness of his lower limbs and hands and urinary retention. His symptoms had progressed over a period of a few hours. On examination power was 4/5 on the MRC power scale for shoulder abduction and elbow flexion, 2/5 for elbow extension, 3/5 for wrist extension and 1/5 for finger extension. Power was 1/5 on his lower limbs. Sensation to pain was reduced with a T6 sensory level. Proprioception and vibration sense were intact. Upper limb reflexes were brisk. Knee jerks and left ankle jerk were difficult to elicit. Plantars were downgoing. Cranial nerves were normal. Results Bloods showed a white cell count of 6.7x109/l, haemoglobin of 96g/l (microcytic), platelets of 243x109/l, creatinine 119μmol/l (baseline 85μmol/l) and CRP of 42.9mg/l. Vitamin B12 was 200ng/l and folate levels were 2.2μg/L. ANA, ANCA, cryoglobulins and hepatitis serology were negative. MRI brain showed a 4mm area of hyper-density in the left pons. MRI whole spine was unremarkable. CSF showed normal protein, white cell count and glucose level. The patient was transferred to a tertiary neurology centre and a diagnosis of anterior spinal cord infarction was made. A nerve biopsy was performed which showed evidence of vasculitis and he was pulsed with methylprednisolone and commenced on high dose oral steroids. Genetic testing showed a pathogenic mutation in the adenosine deaminase 2 gene. He is currently awaiting to commence treatment with TNF inhibitors. Conclusion We conclude that DADA2 is an important differential in a young patient with suspected vasculitis especially in the presence of infarction. Identification of DADA2 allows initiation of treatment with TNF inhibitors which reduces the risk of additional strokes. Disclosure M. Xenophontos: None. J. Gan: None. A.C. Seneviratne: None.

Transition of Japanese clinical guidelines for myasthenia gravis

The Japanese clinical guidelines for myasthenia gravis (MG) were revised in 2022. The major revision points in these guidelines are as follows. 1) A description of Lambert-Eaton myasthenic syndrome (LEMS) was included for the first time. 2) Revised diagnostic criteria of both MG and LEMS are proposed. 3) A high-dose oral steroid regimen with escalation and de-escalation schedule is not recommended. 4) Refractory MG is defined. 5) The use of molecular-targeted drugs is included. 6) MG is divided into six clinical subtypes. 7) Treatment algorithms for both MG and LEMS are presented.

P19 A case of pyrexia of unknown origin - wrong way round!

P19 A case of pyrexia of unknown origin - wrong way round!

Potential Benefits of TNF Targeting Therapy in Blau Syndrome, a NOD2-Associated Systemic Autoinflammatory Granulomatosis.

Blau syndrome is a systemic autoinflammatory granulomatous disease caused by mutations in the nucleotide-binding oligomerization domain 2 (NOD2) gene. NOD2 is an intracellular pathogen recognition receptor. Upon binding to muramyl dipeptide (MDP), NOD2 activates the NF-κB pathway, leading to the upregulation of proinflammatory cytokines. Clinical manifestations of Blau syndrome appear in patients before the age of four. Skin manifestations resolve spontaneously in some cases; however, joint and eye manifestations are progressive, and lead to serious complications, such as joint contracture and blindness. Currently, there is no specific curative treatment for the disease. Administration of high-dose oral steroids can improve clinical manifestations; however, treatments is difficult to maintain due to the severity of the side effects, especially in children. While several new therapies have been reported, including JAK inhibitors, anti-IL-6 and anti-IL-1 therapies, anti-TNF therapy plays a central role in the treatment of Blau syndrome. We recently performed an ex vivo study, using peripheral blood and induced pluripotent stem cells from patients. This study demonstrated that abnormal cytokine expression in macrophages from untreated patients requires IFNγ stimulation, and that anti-TNF treatment corrects the abnormalities associated with Blau syndrome, even in the presence of IFNγ. Therefore, although the molecular mechanisms by which the genetic mutations in NOD2 lead to granuloma formation remain unclear, it is possible that prior exposure to TNFα combined with IFNγ stimulation may provide the impetus for the clinical manifestations of Blau syndrome.

P056 Rheumatology haematology interface: an unusual case of aortitis

Abstract Background/Aims In rheumatological practice it in not unusual to see patients with haematological involvement. We would like to present a very rare diagnosis of Erdheim-Chester disease presenting as retroperitoneal fibrosis and large vessel vasculitis who failed to respond to conventional treatments with steroids and methotrexate. Methods A 71-year-old man presented to haematology with retroperitoneal mass. This was investigated with CT thorax, abdomen and pelvis and a biopsy was performed which was negative for haematological malignancies. However, CT scan picked up thickening of aorta and a PET scan was performed subsequently confirming widespread aortitis and peri-renal mass thought to be consistent with retroperitoneal fibrosis. The patient was started on reducing course of oral steroids with a working diagnosis of retroperitoneal fibrosis with large vessel vasculitis. Results Subsequent staining for IGG-4 was negative and biopsy was not typical with IgG4 cells. The patient was started on high doses of oral steroids by haematologist with Methotrexate started subsequently by rheumatologist due to persistent changes on PET scan, high inflammatory markers and worsening of patient with generalised malaise, weight loss and fatigue. The patient failed to respond to uptitrated doses of methotrexate and was discussed with a specialist unit for consideration of anti-IL6 tocilizumab to control his large vessel vasculitis. On discussion of imaging in MDT, unusual appearance with sparing of ureters, splaying of peri-nephric fat, lack of IgG4 cells pointed towards an alternative diagnosis. Conclusion The patient was subsequently discussed in the national adult histiocytosis meeting with national and international haematologists. The clinical presentation, radiological appearance was thought to be classic of Erdheim-Chester disease, a rare form of adult onset histiocytosis. After further discussions with specialist centre the patient has been commenced on trametinib, a MEK inhibitor treatment (cell tissue negative for BRAF mutation). The patient has recently developed heart failure and has undergone right heart catheter which has found extremely rare pulmonary artery vasculitis too. Disclosure S. Raghuvanshi: None. B. Tarar: None. A. Shaaban: None.

Prognostic Factors Associated with Recovery from Recurrent Idiopathic Sudden Sensorineural Hearing Loss: Retrospective Analysis and Systematic Review.

Although idiopathic sudden sensorineural hearing loss (ISSNHL) is uncommon, recurrent ISSNHL is even rarer. The knowledge about factors associated with patient recovery from recurrent episodes is needed to counsel and treat the patients. Medical records of patients admitted for high dose oral steroid therapy for recurrent ISSNHL between January 2009 and December 2021 were reviewed. Their demographic and clinical characteristics, co-morbid symptoms, and audiologic results were analyzed. The 38 patients admitted for treatment of recurrent ISSNHL included 14 men and 24 women. Recovery rates after the first and recurrent episodes of ISSNHL were 78.9% and 63.2%, respectively. Patients who recovered after recurrent episodes showed significantly higher rates of ear fullness symptoms and early treatment onset than those who did not recover (p < 0.05 each). Of the 30 patients who recovered after the first episode, those who had ear fullness symptoms (p < 0.05, odds ratio (OR) 0.1, 95% confidence interval (CI) 0.01–0.76) and who showed a lower initial hearing threshold (p < 0.05, OR 1.06, 95% CI 1.01–1.12) during the recurrent episode showed significantly better or similar recovery than after the first episode. Ear fullness symptoms and less initial hearing loss were associated with a more favorable prognosis after intial than after recurrent ISSNHL.

Cessation of ambulation results in a dramatic loss of trabecular bone density in boys with Duchenne muscular dystrophy (DMD).

Glucocorticoids are currently used to improve muscle strength and prolong ambulation in boys with DMD although the effect on bone health is still unclear. The aim of this study was to compare bone strength in healthy children and boys with DMD and investigate the interaction between diminished muscle function, loss of ambulation and high dose oral steroids, over a two year time frame. Fifty children were studied, 14 healthy boys (HB), 13 boys with DMD who remained ambulant (DMD-RA) and 23 boys with DMD who lost ambulation (DMD-LA). All boys with DMD had taken oral glucocorticoids. Peripheral quantitative computed tomography was used to measure bone geometry, density, strength and muscle mass of the non-dominant tibia and radius. Measurements were made at baseline, 12 and 24months at the distal metaphysis and mid diaphysis sites. Differences between the three groups were evaluated using ANOVA and a repeated measures model. There were no significant differences in age between the groups: mean age was 9.4, 8.7 and 8.8years for HB, DMD-RA and DMD-LA, respectively. There was no significant difference in steroid exposure between the DMD groups. However, boys who lost ambulation had significantly lower muscle function at baseline (North Star Ambulatory Assessment DMD-RA 23.6 vs. DMD-LA 18.8; p<0.05). At baseline, healthy boys had significantly greater trabecular bone density at the distal radius /ulna (23%/27%) and distal tibia/fibula (30%/46%) than boys with DMD (p<0.05). They also had significantly larger diaphyseal tibiae/fibulae (74%/36%) and radii/ulnae (49%/31%) with thicker corticies and consequently greater bone strength. In contrast, boys with DMD had greater cortical density (4%). Over time, there were small significant differences in the rate of change of both muscle and bone parameters between healthy boys and boys with DMD. For both ambulant and non-ambulant boys with DMD the greatest changes in cortical bone were evident at the tibia. After two years boys with DMD had on average, 63% less bone strength than healthy boys. However, the most strikingly significant difference was in trabecular bone density for boys who became non-ambulant. By 2years non-ambulant DMD boys had 53% less trabecular bone density at distal tibia than their healthy age matched peers compared with boys who remained ambulant who had 27% less trabecular bone density. In conclusion, bone and muscle strength is reduced for all boys with DMD even while they remain ambulant. However, tibia trabecular bone density loss is significantly accelerated in DMD boys who lose independent ambulation compared to DMD boys who remain ambulant despite equivalent levels of corticosteroid exposure.

A case report of a severe neonatal systemic vasculitis on the first day of life

BackgroundNeonatal systemic vasculitis syndromes have been reported in infants born to mothers with systemic lupus erythematosus, Sjögren’s syndrome, Behҫet’s disease, cutaneous polyarteritis nodosa and anti-neutrophil cytoplasmic antibody-associated vasculitides. Here we report a novel association of a case of new-onset maternal seronegative inflammatory arthritis associated with a transient systemic vasculitis in a neonate.Case presentationIn the first 24 h of life, a preterm Caucasian baby boy was noted to have blue discoloration to all four extremities. Despite antibiotics, fresh frozen plasma and anticoagulation, the discoloration remained, particularly in the left index finger. This was associated with fever and a maximum C-reactive protein (CRP) of 148 mg/L. Intravenous immunoglobulin (IVIG) was given with short-term improvement. Initial echocardiogram showed enlarged coronary arteries with normalization on repeat 1 week later. Clinical signs and symptoms responded to high dose oral steroid administration. MRI angiography (MRA) of the body and heart showed tortuosity of arteries in the upper and lower extremities with gadolinium uptake, suggestive of vasculitis. Autoantibody profile negative. Genetic panel for hereditary autoinflammatory diseases was negative as was whole exome sequencing performed on the trio. The baby was weaned off steroids by 5 months of age. A small distal autoamputation of the left index finger occurred.He was born to a 28-year-old woman who developed new onset severe symmetrical polyarthritis at 8 weeks gestation. This was presumed a reactive arthritis secondary to a dental infection. Infectious work up and autoantibodies were negative. She was treated with high dose prednisone for the remainder of her pregnancy.The mother was weaned off prednisone, treated with hydroxychloroquine for 8 months post-partum and remains in remission. A repeat MRA done at 1 year old showed mild residual tortuosities of the arteries in the forearms. The remainder of the medium and large vessels were within normal limits with no gadolinium enhancement to suggest active disease. The child is now 4 years old with normal growth and development.ConclusionThis is a unique case of new-onset seronegative presumed reactive arthritis in a mother with the rare development of a successfully treated medium vessel vasculitis in an infant.

P25 Early onset congenital sarcoidosis: Challenges in the management of recurrent severe bilateral uveitis and inflammatory arthritis

Abstract Case report - Introduction We report a rare case of 20-year-old male diagnosed with congenital sarcoidosis (Blau Syndrome) presenting with a triad of skin rash, arthritis and bilateral uveitis. He has had recurrent flares of sight-threatening bilateral uveitis, as well as persistent arthritis, which has continued despite treatment with multiple immunosuppressive agents and corticosteroids. The best control has been achieved with combination of methotrexate and infliximab which he has returned to; however, complications of frequent infections has necessitated breaks in treatment. Case report - Case description A 4-year-old male presented with inflammatory skin rash which was biopsied and diagnosed as sarcoid lesion. He developed bilateral blurring of vision and diagnosed with uveitis, which was treated with topical and oral steroids. He then experienced multiple joint pains with synovitis. His father had been diagnosed from a young age with sarcoidosis. Other possible causes were ruled out. From early childhood, our patient was treated with methotrexate, then methotrexate and azathioprine for recurrent uveitis, but required long-term oral prednisolone. He started infliximab with methotrexate in adolescence with good response and weaned his steroids. However, uveitis flared when infliximab was stopped for appendicectomy, requiring rescue with oral and intraocular steroids. Further flares with cystoid macular oedema secondary to sarcoid uveitis and arthritis flares required high-dose steroids, contributing to iatrogenic cushingoid syndrome. Beta-haemolytic streptococcal infection led to guttate psoriasis, after which he had more persistent polyarticular inflammation and tenosynovitis. Antibodies were detected against infliximab although clinically uveitis continued to respond. Adalimumab caused site injection reactions. MDT discussions recommenced higher dose infliximab. Long-standing nausea after methotrexate, oral or subcutaneous, despite folic acid and anti-emetics, became intolerable. Transfer of care to another rheumatology centre focused on trying to control his arthritis. Leflunomide and then mycophenolate-mofetil replaced methotrexate. Infliximab was then switched to tofacitinib (developed severe headache) and then baricitinib. Joint symptoms improved on baricitinib, and nausea reduced with mycophenolate; however, his uveitis flared severely again requiring further high-dose oral and intraocular steroid rescue. Further MDT and patient discussion resulted in restarting methotrexate 20mg weekly (enduring nausea) and infliximab 5mg/kg monthly. Uveitis settled and arthritis control remained stable over the last 12 months with reduction in prednisolone to 5mg daily. Recurrent infections with recent pilonidal sinus continue to cause treatment interruptions. Case report - Discussion Sarcoidosis is a chronic, idiopathic multisystem, granulomatous disorder rarely occurring in children. Early onset sarcoidosis/Blau syndrome (familial) is distinct, presenting in children around age 4 years and characterised by the triad of skin, joint and eye manifestations without the pulmonary involvement seen in adults. Children with Blau syndrome can develop severe complications such as blindness, growth retardation, heart involvement, renal failure and death. Our patient was diagnosed with Blau syndrome based on the symptom triad and NOD2 gene mutation positive. He had recurrent flares of severe uveitis and difficult to manage joint disease involving his wrists/hands, shoulders, knees, ankles with tenosynovitis. He required shoulder decompression, knee-meniscal surgery and plastic-surgery to finger tendons. With early treatment he has grown well and preserved visual acuity (6/9 in both eyes), with no other organ involvement. He works full-time. He has suffered from depression and struggled with body image issues, particularly from cushingoid changes. Difficult patient choices balanced medication side effects and control of eye/joint inflammation. He endures nausea after weekly methotrexate and some ongoing joint symptoms to enable his uveitis-responsive treatment to be prioritised. Recurrent infections interrupted use of the most efficacious immunosuppressive therapy (infliximab and methotrexate). Jak Inhibitors provided some benefit for joint symptoms but did not control his uveitis. Different mechanisms seem to be important in the perpetuation of his uveitis and arthritis given the differential responses to treatment. Other treatment options such as anti-IL1 therapy were considered; however, limited data for eye inflammation results in patient continuing on his current therapy. Multi-disciplinary care/co-ordination is essential in managing this complex, rare condition to balance optimisation of his medications to treat his most organ threatening and debilitating symptoms. Genetic studies have enabled confirmation of the familial basis of his condition and autosomal dominant inheritance risk. Case report - Key learning points