scholarly journals AB0854 A CASE REPORT OF BROWN SYNDROME COMPLICATING THE MANAGEMENT OF SCLEROMYOSITIS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1451.1-1451
Author(s):  
P. Arora ◽  
L. Croot
Keyword(s):  
Case Report ◽  
Myasthenia Gravis ◽  
Muscle Weakness ◽  
Tendon Sheath ◽  
Motility Disorder ◽  
Ocular Motility ◽  
Muscle Involvement ◽  
Eye Muscle ◽  
Brown Syndrome ◽  
Superior Oblique

Background:Brown syndrome is a rare ocular motility disorder which has been reported in JRA, RA and SLE but never in a patient with scleromyositis.Objectives:To report the first case of Brown syndrome in a patient with scleromyositis and increase awareness of this condition.Methods:A case report and discussion.Results:The patient was diagnosed with scleromyositis, at the age of 34, after presenting with arthralgia, sclerodactyly, skin pigmentation, Raynaud’s phenomenon, mild muscle weakness and dyspnoea. His labs were CRP 47 mg/L, CK 868 IU/L, ANA strongly positive; anticentromere Ab negative and Anti-PM/Scl-75 and Anti- PM/Scl-100 Ab positive. HRCT chest showed extensive pulmonary fibrosis with lower lobe honeycombing. TLCO was 3.98 (33% of predicted).He was initially managed with high dose steroids and pulsed IV cyclophosphamide with azathioprine for maintenance therapy. His lung disease stabilised and myositis resolved but he continued to develop calcinosis cutis so was switched to 6 monthly IV rituximab.6 years later, he developed morning headaches with intermittent diplopia, described as double vision in vertical gaze with one image being above the other. Episodes lasting 10 minutes to 2 hours. Examination showed normal visual acuity and fundoscopy, no peripheral or eye muscle weakness.Investigations to exclude myasthenia gravis, cerebral vasculitis and atypical infection were organised (MRI, AChR antibody, lumbar puncture, MRA) and were normal.Because of intermittent nature of his episodes, his eye examination was always normal but he captured images in disconjugate gaze with right eye looking upwards and outwards when trying to look straight (Figure 1). Occasionally this was associated with orbital pain and an audible click. These features are suggestive of Brown syndrome.He continues to have recurrent episodes despite immunosuppression but prednisolone 20mg daily for 1-2 days at onset of each attack causes rapid resolution of symptoms.Figure 1.Right eye looking upwards and outwards when trying to look straightConclusion:Scleromyositis is an overlap syndrome of scleroderma and dermatomyositis. Muscle involvement is mild and clinical presentation can be variable. The PM/Scl antibodies are highly characteristic of the syndrome. (1)Brown syndrome is an ocular motility disorder, first described in 1950, characterized by the inability to fully elevate the affected eye in adduction due to pathology of the superior oblique tendon sheath. (2)It can be congenital or acquired, viz, trauma, surgery or sinusitis and also been described in RA, JIA and SLE. (3)If superior oblique tendon cannot relax or slide freely through the trochlea then the affected eye cannot depress completely, leading to diplopia on upward gaze. (4) In inflammatory disease it is thought that swelling of the posterior part of the superior oblique tendon or tenosynovitis are likely causes of the tendon sheath abnormality. (4) This is likely to be the case in this patient because his symptoms are recurrent, respond to steroids and tend to occur more towards the end of rituximab cycles.Recognition of this syndrome is important because invasive investigations can be avoided. Also, intermittent diplopia in a patient with autoimmune disease is suggestive of myasthenia gravis which maybe incorrectly diagnosed.Finally, this case demonstrates the syndrome can be easily managed with short courses of oral steroids, although patients who are already on immunosuppressant treatment may need this in addition.References:[1]Török L, Dankó K, Cserni G, Szûcs G. PM-SCL autoantibody positive scleroderma with polymyositis (mechanic’s hand: clinical aid in the diagnosis). JEADV 2004; 18: 356–359[2]Brown H W. Congenital structural muscle anomalies. In:Alien J H, ed. Strabismus ophthalmic symposium I. St Louis:CV Mosby, 1950: 205-6.[3]Cooper C, Kirwan JR, McGill NW, Dieppe PA. Brown’s syndrome: an unusual ocular complication of rheumatoid arthritis. Ann Rheum Dis 1990; 49:188-9.[4]Sandford-Smith JH. Superior oblique tendon syndrome and its relationship to stenosing tenosynovitis. Br JOphthalmol 1973; 57:859-65.Disclosure of Interests:None declared

scholarly journals Combined Brown syndrome and superior oblique palsy without a trochlear nerve: case report

2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Hee Kyung Yang ◽  
Jae Hyoung Kim ◽  
Ji-Soo Kim ◽  
Jeong-Min Hwang
Keyword(s):  
Case Report ◽  
Trochlear Nerve ◽  
Superior Oblique Palsy ◽  
Brown Syndrome ◽  
Superior Oblique

Computed tomography in the evaluation of Brown syndrome of the superior oblique tendon sheath.

Radiology ◽  
1985 ◽  
Vol 154 (3) ◽  
pp. 691-695 ◽  
Author(s):  
M F Mafee ◽  
E R Folk ◽  
B G Langer ◽  
M T Miller ◽  
P Lagouros ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Tendon Sheath ◽  
Brown Syndrome ◽  
Superior Oblique

scholarly journals Myasthenia Gravis in Patients with Histopathologically Diagnosed Thymoma at Sanglah General Hospital: A Case Series

2021 ◽  
Vol 15 (2) ◽  
pp. 91
Author(s):  
Desak Putu Gayatri Saraswati Seputra ◽  
I Gusti Ayu Sri Mahendra Dewi
Keyword(s):  
Myasthenia Gravis ◽  
General Hospital ◽  
Muscle Weakness ◽  
Histopathological Examination ◽  
Early Recognition ◽  
Regional Lymph Node ◽  
Case Series ◽  
Epithelial Tissue ◽  
Muscle Involvement ◽  
Female Ratio

Introduction: Thymoma is a neoplasm of the thymus gland which arises from the epithelial tissue. Thymoma is frequently related to various paraneoplastic syndromes, most commonly myasthenia gravis. Up to 50% of patients with thymoma are reported to develop myasthenia gravis, whereas 10–15% of patients with myasthenia gravis are found to have thymoma. Case Presentation: This case series reported 3 patients with myasthenia gravis which co-occurred with thymoma at Sanglah General Hospital from 2018 to 2019. The patients’ ages range from 33 to 61 years (mean age 46 ± 11 years) with a 2:1 male-to-female ratio. The diagnosis of myasthenia gravis was made by the presentation of typical myasthenia gravis appearances, the fluctuating intensity of ocular and bulbar muscle weakness (all three cases), and limbs and axial muscle weakness (one case); no respiratory muscle involvement was found. Physical and supporting examinations including electroneuromyography results were coherent with myasthenia gravis. The diagnosis of thymoma was made by highly suggestive appearance in Thorax Multi Sliced Computed Tomography (MSCT) scan examination and histopathologic findings. MSCT scan examination showed a well-circumscribed ovoid solid mass in the mediastinum (left anterosuperior, superior, and anterior to middle right mediastinum) sized from 1.8x1.5x2.9 cm to 8.1x9.9x9.7 cm, enhanced with contrast injection with areas of calcification and central necrotic (1 case) and no dissemination to regional lymph node and neighboring organs. All cases received acetylcholinesterase inhibitors and underwent extended thymectomy. Histopathological examination showed accordance with thymoma features of subtype A, AB, and B1.Conclusions: Clinicians should be aware of the thymoma and myasthenia gravis co-existence possibility to ensure early recognition and appropriate management.

Limb-Girdle Myasthenia Gravis in a 10-Year-Old Girl

2011 ◽  
Vol 26 (11) ◽  
pp. 1434-1437 ◽  
Author(s):  
Naveen Sankhyan ◽  
Biswaroop Chakrabarty ◽  
Suvasini Sharma ◽  
Konanki Ramesh ◽  
Sheffali Gulati
Keyword(s):  
Myasthenia Gravis ◽  
Muscle Weakness ◽  
Challenge Test ◽  
Diurnal Fluctuation ◽  
Repetitive Nerve Stimulation ◽  
Muscle Involvement ◽  
Significant Decrement ◽  
High Index Of Suspicion ◽  
Autoimmune Etiology

A 10-year-old girl presented with progressive proximal limb muscle weakness without facial, ocular, or bulbar muscle involvement. There was no fatigability or diurnal fluctuation in symptoms. Her weakness worsened with febrile illnesses and recovered with accruing disabilities over a few weeks. Serum creatine kinase levels and muscle biopsy were normal. A significant decrement on repetitive nerve stimulation test and positive response to therapeutic neostigmine challenge test confirmed the diagnosis of limb-girdle myasthenia. She responded well to corticosteroids and thymectomy, demonstrating a likely autoimmune etiology. This case highlights the long-term fluctuations in a case of myasthenia gravis and the need for a high index of suspicion for myasthenia in children presenting with unexplained muscle weakness, even in the absence of typical features such as fatigability, diurnal fluctuation, and oculobulbar weakness.

scholarly journals Autoimmune polyglandular syndrome, type 2 associated with myasthenia gravis

2012 ◽  
Vol 69 (4) ◽  
pp. 358-362 ◽  
Author(s):  
Radoslav Pejin ◽  
Edita Stokic ◽  
Mile Novkovic ◽  
Sofija Banic-Horvat ◽  
Milan Cvijanovic
Keyword(s):  
Case Report ◽  
Myasthenia Gravis ◽  
Adrenal Insufficiency ◽  
Muscle Weakness ◽  
Hormone Replacement ◽  
Primary Hypothyroidism ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

Introduction. Autoimmune polyglandular syndrome type 2 is defined as adrenal insufficiency associated with autoimmune primary hypothyroidism and/or with autoimmune type 1 diabetes mellitus, but very rare with myasthenia gravis. Case report. We presented a case of an autoimmune polyglandular syndrome, type 2 associated with myasthenia gravis. A 49-year-old female with symptoms of muscle weakness and low serum levels of cortisol and aldosterone was already diagnosed with primary adrenal insufficiency. Primary hypothyroidism was identified with low values of free thyroxine 4 (FT4) and raised values of thyroidstumulating hormone (TSH). The immune system as a cause of hypothyroidism was confirmed by the presence of thyroid antibodies to peroxidase and TSH receptors. Myasthenia gravis was diagnosed on the basis of a typical clinical feature, positive diagnostic tests and an increased titre of antibodies against the acetylcholine receptors. It was not possible to confirm the immune nature of adrenal insufficiency by the presence of antibodies to 21- hydroxylase. The normal morphological finding of the adrenal glands was an indirect confirmation of the condition as well as the absence of other diseases that might have led to adrenal insufficiency and low levels of both serum cortisol and aldosterone. Hormone replacement therapy, anticholinergic therapy and corticosteroid therapy for myasthenia gravis improved the patient?s general state of health and muscle weakness. Conclusion. This case report indicates a need to examine each patient with an autoimmune disease carefully as this condition may be associated with another autoimmune diseases.

scholarly journals EP23 Symptomatic sarcoid myopathy: a rare extra-pulmonary manifestation of sarcoidosis

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Saadia Sasha Ali ◽  
Mark Russell ◽  
James Galloway ◽  
Ioana Onac
Keyword(s):  
Mycophenolate Mofetil ◽  
Case Report ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Fdg Pet ◽  
Inflammatory Myopathy ◽  
Nemaline Myopathy ◽  
Muscle Disease ◽  
Muscle Enzymes ◽  
Muscle Involvement

Abstract Case report - Introduction Sarcoidosis is a multisystem disorder of unknown aetiology that is characterised pathologically by the presence of non-caseating granulomata. The disease is known for its multitude of presentations and can affect almost any organ system. Symptomatic skeletal muscle involvement in sarcoidosis is infrequent and occurs in < 3% of all sarcoidosis patients. We present the case of a 47-year-old male with multisystem sarcoidosis involving his lungs, eyes, and liver, who presented to our tertiary sarcoid centre with proximal muscle weakness. This case is significant as it highlights the diagnostic challenges that can arise when muscle weakness occurs on a background of sarcoidosis. Case report - Case description A 47-year-old gentleman presented to Rheumatology with a ten-year history of progressive lower extremity muscle weakness. He was known to have multisystem sarcoidosis affecting his lungs (diffuse interstitial lung disease), eyes (anterior uveitis) and liver (liver fibrosis). His sarcoidosis was initially diagnosed ten years beforehand, from confirmatory histology obtained via Endobronchial Ultrasound sampling. He was previously a keen runner; however, he had observed a gradual decline in his ability to run. Over a period of two years his mobility further deteriorated, and he required two sticks to walk. Physical examination revealed a waddling gait with wasting to his quadriceps bilaterally. He had reduced power of 2/5 on hip flexion on the Medical Research Council (MRC) muscle grading scale. There was no bulbar involvement and facial and upper extremity strength was normal. His past medical history was also remarkable for anxiety and depression. There was no family history of muscle disease. Serology revealed a Creatine Kinase (CK) of 773 IU/L (32-294 IU/L). He had an equivocal signal recognition particle (SRP) antibody result, which was later repeated and found to be negative. His EMG showed myopathic changes in his distal and proximal lower limb muscles with profuse spontaneous activity, indicating an active myopathic process. MRI of his lower limbs showed symmetrical fatty infiltration in the distal semimembranosus and short head of biceps femoris muscles with no clear oedema. A muscle biopsy showed diffuse MHC Class 1 upregulation with nemaline rods. Treatment with pulsed IV methylprednisolone was started, in addition to Mycophenolate Mofetil (MMF) as steroid therapy was not sufficient to suppress his disease. He had a reduction in his CK to 205 IU/L and no activity in his skeletal muscle on FDG-PET CT. His power improved to 3/5 on MRC grading. Case report - Discussion Three distinct patterns of muscle involvement in sarcoidosis are recognised: chronic myopathy, nodular myopathy, and acute myopathy. Symptomatic muscle disease in sarcoidosis is rare and it is important to consider other potential aetiologies of a progressive myopathy, even in a patient with established multisystem sarcoidosis. This case is interesting as there was diagnostic difficulty in ascertaining the diagnosis, which potentially included a corticosteroid-induced myopathy, SRP necrotising myopathy, or even a nemaline myopathy. Corticosteroid myopathy has a similar distribution to a sarcoid myopathy. However, the patient’s clinical phenotype, elevated muscle enzymes, EMG findings, and histological data favoured an inflammatory myositis. SRP necrotising myopathy is characterised by rapidly progressive proximal muscle weakness with necrotic muscle fibres, scant inflammation, and a significant elevation in muscle enzymes, which were not seen in this patient. The patient’s weakness was more insidious in onset, with diffuse inflammation on muscle biopsy. Nemaline rods were seen on biopsy, however these were only present in one area, which is atypical of a nemaline myopathy. Furthermore, the presence of many loculated fibres on biopsy and upregulation of MHC class 1 was more in keeping with a diagnosis of an inflammatory myopathy secondary to sarcoidosis, even in the absence of non-caseating granulomas on muscle biopsy. There are no randomised controlled trials of treatments in sarcoid myopathy. While methotrexate is most used in steroid-recalcitrant myositis, the patient’s liver fibrosis preluded this therapy, thus MMF was trialled instead. Co-existing inflammatory muscle disease with sarcoidosis has been documented infrequently in the literature. They both have overlapping symptoms with contrasting treatment strategies. In this patient, the muscle biopsy pointed to an idiopathic inflammatory myopathy (IIM) without granulomatous infiltration, it is intriguing to consider whether treatment of an IIM with intravenous immunoglobulin or rituximab would have resulted in better clinical outcomes. Case report - Key learning points Key points: Even though symptomatic muscle involvement in sarcoidosis is uncommon, a sarcoid myopathy should be suspected in symptomatic patients with known or suspected pulmonary or extrapulmonary sarcoidosis. In patients without known sarcoidosis but with unexplained muscle symptoms, particularly in the setting of a multisystem illness, sarcoid myopathy should be considered in the differential diagnosis.MRI and muscle biopsy are useful in distinguishing a sarcoid myopathy from a corticosteroid-induced myopathy as illustrated in this case.Fluorine 18 fluorodeoxyglucose (FDG) PET/CT is sensitive for assessment of the inflammatory activity of sarcoidosis in any organ. In this patient, FDG-PET was useful in evaluating active sarcoid lesions and evaluating the therapeutic effects of Mycophenolate Mofetil on his sarcoid myopathy. Although there is limited data to guide treatment in a sarcoid myopathy, Mycophenolate Mofetil can be used as an alternative to Methotrexate.

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