scholarly journals P039 Muscle wasting & weakness: a rare presentation of sarcoidosis

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Clare Tomlinson ◽  
Asim Khan ◽  
Debashish Mukerjee ◽  
Naveen Bhadauria
Keyword(s):  
Lower Limb ◽  
Muscle Wasting ◽  
Correct Diagnosis ◽  
Lower Limbs ◽  
High Dose ◽  
Rare Presentation ◽  
Multisystem Disease ◽  
Limb Weakness ◽  
History Of ◽  
Noncaseating Granulomas

Abstract Background/Aims  Sarcoidosis is a rare multisystem disease characterised by the presence of noncaseating granulomas. It most commonly affects the lungs though can affect any other organ system. Rarely, it can manifest as an acute myopathy. We describe a case of a patient presenting with muscle weakness and constitutional symptoms who was eventually diagnosed with sarcoidosis. Methods  A 48-year-old male with a background of lumbar spondylosis and BPH, presented with a 6-week history of progressive upper and lower limb weakness, myalgia and reduced mobility. He also described an 18-month history of progressive fatigue, drenching night sweats and 10-kilogram weight loss. His symptoms meant he was unable to work as a firefighter. Examination demonstrated profound muscle wasting and reduced power in the proximal muscles of his upper and lower limbs. There was no evidence of rash, synovitis or lymphadenopathy. Blood tests showed a normocytic anaemia (Hb 100 g/L) and raised C-reactive peptide (180 mg/L) and erythrocyte sedimentation rate (100 mm/hour). The creatine kinase ranged between 20-42 units/litre. He had a weakly positive anti-nuclear antibody (1:80). The remaining autoantibody screen was negative including ENA, DSDNA, ANCA, rheumatoid factor and anti-CCP. Complement proteins were unremarkable. Furthermore, an extended myositis panel revealed no myositis-specific or myositis-associated antibodies. Serum calcium and angiotensin-converting enzyme (ACE) levels were normal. Blood cultures and virology screen including for HIV, hepatitis B, hepatitis C, CMV, EBV, COVID-19 and respiratory viruses were all negative. A chest radiograph was also unremarkable. Results  He subsequently underwent electromyography which revealed generalised myopathy. An MRI of the lower limb proximal musculature showed evidence of muscle oedema worse on the right-side but no definitive evidence of myositis. A PET-CT followed revealing FDG-avid generalised lymphadenopathy and polyarticular uptake, but little uptake in the skeletal muscles. He underwent an external iliac lymph node core biopsy which demonstrated multiple noncaseating granulomas and lymphadenitis. Cultures for Tuberculosis were negative and there was no evidence of a lymphoproliferative disorder. A muscle biopsy was desired but not possible due to lack of availability because of the COVID-19 pandemic. The patient was diagnosed with sarcoidosis and commenced on three pulses of intravenous methylprednisolone followed by a weaning regimen of high-dose oral prednisolone and subcutaneous methotrexate. This resulted in a sustained improvement in his symptoms and normalisation of inflammatory markers. Conclusion  Symptomatic myopathy is present in only 0.5-2.5% of sarcoidosis patients. This unique case highlights the heterogeneity of this disease and the vital role different diagnostic modalities play in achieving the correct diagnosis. It is also pertinent that the lymphadenopathy, found incidentally via imaging, led to the diagnosis. Although notoriously a diagnosis of exclusion, this case emphasises the importance of considering sarcoidosis even in the absence of respiratory symptoms, a raised ACE or hypercalcaemia. Disclosure  C. Tomlinson: None. A. Khan: None. D. Mukerjee: None. N. Bhadauria: None.

scholarly journals Neurologic melioidosis presented as encephalomyelitis and subdural collection in two male labourers in India

2015 ◽  
Vol 9 (11) ◽  
pp. 1289-1293 ◽  
Author(s):  
Kavitha Saravu ◽  
Rajagopal Kadavigere ◽  
Ananthakrishna Barkur Shastry ◽  
Rohit Pai ◽  
Chiranjay Mukhopadhyay
Keyword(s):  
Lower Limb ◽  
Corticosteroid Treatment ◽  
Conus Medullaris ◽  
Subdural Empyema ◽  
Lower Limbs ◽  
High Dose ◽  
Limb Weakness ◽  
Subdural Collection ◽  
Lower Limb Weakness ◽  
Left Lower Limb

Two distinct and potentially deceitful cases of neurologic melioidosis are reported. Case 1: A 39-year-old alcoholic and uncontrolled diabetic male presented with cough, fever, and left focal seizures with secondary generalization. An magnetic resonance imaging (MRI) brain scan revealed a small peripherally enhancing subdural collection along the interhemispheric fissure suggestive of minimal subdural empyema. Blood culture grew Burkholderia pseudomallei. Patient was diagnosed with disseminated bacteraemic melioidosis with subdural empyema. He was successfully treated with ceftazidime-cotrimoxazole-doxycycline. Case 2: A 45-year-old male presented with left lower limb weakness, difficulty in passing urine and stool, and back pain radiating to lower limbs. Neurological examination revealed flaccid left lower limb with absent deep tendon reflexes and plantar reflex. Spinal MRI showed T2 hyperintensity from D9 to L1 suggestive of demyelination. Patient was treated with high dose methylprednisolone. By day 3 of steroid treatment, lower limb weakness progressed. Subsequent MRI showed extensive cord hyperintensity on T2 weighted sequence extending from C5 to conus medullaris consistent with demyelination. Cerebrospinal fluid (CSF) culture grew B. pseudomallei, and the patient was given meropenem-cotrimoxazole. After three weeks of parenteral treatment, the lower limbs remained paralyzed. Patient was discharged on oral cotrimoxazole-doxycycline. Conclusions: Melioidosis should be considered as a differential in focal suppurative central nervous system (CNS) lesions, meningoencephalitis, or encephalomyelitis in endemic areas. CNS infections must be ruled out prior to steroid administration. The role of corticosteroids in demyelinating CNS melioidosis has been refuted. This is a rare documentation of effect of unintentional corticosteroid treatment in melioidosis.

ORGANOPHOSPHATE INDUCED DELAYED NEUROPATHY-A CASE REPORT

2021 ◽  
pp. 31-32
Author(s):  
Sarita J. Parmar ◽  
Harsh A. Patel ◽  
Vraj Rathod ◽  
Kapil Parmar ◽  
Minakshi Chauhan ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Lower Limb ◽  
Electrophysiological Study ◽  
Lower Limbs ◽  
Limb Weakness ◽  
Axonal Polyneuropathy ◽  
Lower Limb Weakness ◽  
Severe Motor ◽  
History Of ◽  
Indian Male

Organophoshate induced delayed polyneuropathy (OPIDP) is a rare clinical condition associated with ingestion of organophosphate. Clinically the patient presents with distal lower limb weakness mainly along with paraesthesia and other symptoms of neuropathy. Nerve conduction study shows motor axonal neuropathy.Here, we are presenting a case of 23 years old INDIAN male who presented with pain and tingling sensations in lower limbs along with bilateral upper limb and lower limb paresis with difculty in getting up and walking. He had history of Dichlorvos based organophosphate ingestion around 45 days before. Electrophysiological study suggestive of Severe motor axonal polyneuropathy affecting all four limbs. No central nervous system signs were present.

scholarly journals 055 An unusual presentation of SOD1-ALS: a case report

2019 ◽  
Vol 90 (e7) ◽  
pp. A18.1-A18
Author(s):  
Allycia MacDonald ◽  
Jason Dyke ◽  
Simon Khangure ◽  
Andrew Kelly
Keyword(s):  
Lower Limb ◽  
Nerve Root ◽  
Neuronal Degeneration ◽  
Case Reports ◽  
Cauda Equina ◽  
Lower Limbs ◽  
High Dose ◽  
Initial Examination ◽  
Limb Weakness ◽  
The Right

IntroductionApproximately 10% of amyotrophic lateral sclerosis (ALS) cases are inherited, of which 20% are due to mutations in the superoxide dismutase-1 gene (SOD1). MRI abnormalities are not uncommon in ALS, and there have been previous case reports of peripheral nerve enhancement in patients with SOD1 mutations, typically attributed to rapid neuronal degeneration.CaseA 31-year-old previously well Malaysian woman presented with a 3 month history of progressive lower limb weakness, initially involving the right lower limb but progressing to involve the left, requiring the use of a walking aid. Initial examination demonstrated asymmetric upper and lower motor neuron signs in bilateral upper and lower limbs. EMG findings were of a severe pure motor axonal process. CSF examination revealed elevated protein without significant elevation of white cells. MRI brain and spine demonstrated smooth cauda-equina ventral nerve root thickening and enhancement. Treatment with intravenous immunoglobulin and high dose corticosteroid was commenced for a presumed inflammatory process, with no clinical improvement. A cauda-equina nerve root biopsy was performed, demonstrating features consistent with an immune-mediated demyelinating neuropathy. The patient continued to deteriorate, developing flaccid upper limb weakness and facial involvement. Plasma exchange, azathioprine, cyclophosphamide, and rituximab were sequentially administered over the following two months without altering the rate of disease progression. Genetic testing returned a positive SOD1 heterozygous gene mutation, confirming the diagnosis of ALS.ConclusionsWe present a case of SOD1-ALS with atypical features on imaging and histopathology suggesting an underlying demyelinating process, expanding the known clinical spectrum of this mutation.

scholarly journals Active Unicameral Bone Cysts in the Upper Limb are at Greater Risk of Fracture

2009 ◽  
Vol 17 (2) ◽  
pp. 157-160 ◽  
Author(s):  
Inn Kuang Tey ◽  
Arjandas Mahadev ◽  
Kevin Boon Leong Lim ◽  
Eng Hin Lee ◽  
Saminathan Suresh Nathan
Keyword(s):  
Growth Plate ◽  
Lower Limb ◽  
Pathological Fracture ◽  
Bone Cyst ◽  
Lower Limbs ◽  
Unicameral Bone Cyst ◽  
Pathological Fractures ◽  
Risk Of Fracture ◽  
History Of ◽  
Index 2

Purpose. To elucidate the natural history of unicameral bone cyst (UBC) and risk factors for pathological fracture. Methods. 14 males and 8 females (mean age, 9 years) diagnosed with UBC were reviewed. Cyst location, symptoms, and whether there was any fracture or surgery were recorded. Cyst parameters were measured on radiographs, and included (1) the cyst index, (2) the ratio of the widest cyst diameter to the growth plate diameter, and (3) the adjusted distance of the cyst border from the growth plate. Results. There were 11 upper- and 11 lower-limb cysts. 13 patients had pathological fractures and 9 did not. 20 patients were treated conservatively with limb immobilisation; 2 underwent curettage and bone grafting (one resolved and one did not). Seven cysts resolved (5 had fractures and 2 did not). The risk of fracture was higher in the upper than lower limbs (100% vs 18%, p<0.001). Fractured cysts were larger than unfractured cysts (mean cyst index, 4.5 vs. 2.2, p=0.07). Active cysts were more likely to fracture. Conclusion. Conservative management had a 30% resolution rate. Surgery should be considered for large active cysts in the upper limbs in order to minimise the fracture risk.

scholarly journals Dilemma in the Management of Duchenne Muscular Dystrophy in a Resource Limited Settings

2019 ◽  
Vol 38 (2) ◽  
pp. 122-124
Author(s):  
Ahmadu Baba Usman ◽  
Pembi Emmanuel ◽  
Ovansa Emmanuel Onimisi ◽  
Adewale O. Oyinloye ◽  
Apollos Nachanuya ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Disorder ◽  
Lower Limbs ◽  
Financial Constraint ◽  
Limb Weakness ◽  
Progressive Muscle Weakness ◽  
Resource Limited ◽  
Duchene Muscular Dystrophy ◽  
History Of ◽  
Great Burden

Duchene muscular dystrophy is an x-linked recessive genetic disorder which present with progressive muscle weakness in children. It is often complicated by child becoming wheelchair bound by age 12. This limitation on the child and lack of cure is a great burden on the child, family and the community. We present a case of an 11-year old boy who presented with a seven years history of progressive limb weakness. Examination revealed hyper-lordosis of the thora-columbar spine, hypertrophied calf muscles, weak lower limbs and waddling gait. Due to financial constraint, only histology was relied on for definitive diagnosis. He was counselled, placed on prednisolone and commenced physiotherapy. This case portrays the challenges associated with the management of a rare disease in resource constraint settings.

scholarly journals Sacral Tuberculosis: An Atypical Manifestation

2018 ◽  
Vol 17 (1) ◽  
Author(s):  
Faisal Amir Si Mirah ◽  
Ahmad Faizal Roslan ◽  
Ed Simor Khan Mor Japar Khan ◽  
Rajandra Kumar Karupiah ◽  
Zamzuri Zakaria @ Mohamad
Keyword(s):  
Correct Diagnosis ◽  
Lower Limbs ◽  
Mantoux Test ◽  
Ct Guided ◽  
Walking Aids ◽  
Grade 5 ◽  
History Of ◽  
Prolapsed Intervertebral Disc ◽  
The Right ◽  
High Index Of Suspicion

Sacral tuberculosis (TB) is extremely rare and its unusual entity might delay the diagnosis and treatment of this treatable disease. A 38-year-old lady presented with a 1 year history of lower back pain with radiculopathy more to right lower limb. The patient was initially treated as Prolapsed Intervertebral Disc (PID), but showed no improvement despite regular physiotherapy and medication. Subsequently, the pain was confined to the right gluteal area and became more severe. Quality of life was impaired in which patient started using walking aids and stopped working. There was a weight loss of 20kg. No other symptom of TB infection or history of contact with TB patient. Bowel and urinary functions were normal. Examination showed localized tenderness at the right gluteal area. Neurological assessment of both lower limbs were MRC grade 5. Blood investigations were normal including the ESR level (17mm/hour). Mantoux test was positive with 18mm induration. MRI revealed a large rim enhancing paravertebral collection at pre-sacral space which extended into bilateral piriformis and gluteal muscles. The patient underwent CT-guided drainage of both gluteals and specimens taken to confirm the diagnosis of TB. Patient showed significant improvement clinically within 1 week after the drainage procedure and initiation of antituberculous chemotherapy. The initial presentation of this patient mimics PID due to irritation of sciatic nerve at piriformis level. However a change in the presentation and failure of conservative treatment should raise a high index of suspicion and necessitates further investigation to establish correct diagnosis hence proper treatment can be initiated.

scholarly journals Hypokalaemic paralysis and metabolic alkalosis in a patient with Sjögren syndrome: a case report and literature review

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Rasika Ranaweerage ◽  
Shehan Perera ◽  
Aruna Gunapala
Keyword(s):  
Lower Limb ◽  
Metabolic Alkalosis ◽  
Muscle Power ◽  
Autoimmune Disorders ◽  
Sjögren Syndrome ◽  
Gitelman Syndrome ◽  
Sjogren Syndrome ◽  
Limb Weakness ◽  
Primary Sjögren Syndrome ◽  
History Of

Abstract Background Acquired Gitelman syndrome is a very rare disorder reported in association with autoimmune disorders, mostly Sjögren syndrome. It is characterized by the presence of hypokalaemic metabolic alkalosis, hypocalciuria, hypomagnesaemia and hyper-reninaemia, in the absence of typical genetic mutations associated with inherited Gitelman syndrome. Case presentation A 20 year old woman who was previously diagnosed with primary Sjögren syndrome and autoimmune thyroiditis presented with two week history of lower limb weakness and salt craving. Examination revealed upper limb and lower limb muscle weakness with muscle power of 3/5 on MRC scale and diminished deep tendon reflexes. On evaluation, she had hypokalaemia with high trans-tubular potassium gradient, metabolic alkalosis and hypocalciuria, features suggestive of Gitelman syndrome. New onset hypokalaemic alkalosis in a previously normokalaemic patient with Sjögren syndrome strongly favored a diagnosis of acquired Gitelman syndrome. Daily potassium supplementation and spironolactone resulted in complete clinical recovery. Conclusions Acquired Gitelman syndrome associated with Sjögren syndrome is rare. It should be considered as a differential diagnosis during evaluation of acute paralysis and hypokalaemic metabolic alkalosis in patients with autoimmune disorders, especially Sjögren syndrome.

scholarly journals Rosuvastatin-related rhabdomyolysis causing severe proximal paraparesis and acute kidney injury

2019 ◽  
Vol 12 (10) ◽  
pp. e229244 ◽  
Author(s):  
Kosar Hussain ◽  
Anil Xavier
Keyword(s):  
Acute Kidney Injury ◽  
Kidney Injury ◽  
High Dose ◽  
Normal Range ◽  
Limb Weakness ◽  
Lower Limb Weakness ◽  
History Of ◽  
Complicated Course ◽  
Bilateral Lower Limb ◽  
Initial Blood

We describe the case of a 76-year-old man who presented with bilateral lower limb weakness associated with decreased urine output. His initial blood results showed acute kidney injury (AKI) stage 3 with substantially raised serum creatine kinase concentration of 37 950 IU/L (normal range <171 U/L). He had been on high-dose rosuvastatin for 4 years with a recent brand change occurring 1 week prior to onset of symptoms. There was no history of pre-existing neuromuscular disease. Statin-related rhabdomyolysis was suspected and rosuvastatin was withheld. His muscle strength gradually improved. He required haemodialysis for 10 weeks. He was discharged home after a complicated course of hospitalisation. His renal function improved and he became dialysis-independent; however, he was left with residual chronic kidney disease.

scholarly journals 1. TIF1-γ associated dermatomyositis

2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Rosemary Waller ◽  
Nadia Ahmad
Keyword(s):  
Conflicts Of Interest ◽  
Case Reports ◽  
Strong Association ◽  
Lung Nodule ◽  
Lower Limbs ◽  
Mediastinal Lymphadenopathy ◽  
Uneventful Recovery ◽  
High Dose ◽  
Shortness Of Breath ◽  
History Of

Abstract Introduction This is a case of a patient presenting at the age of 39 with dermatomyositis. Subsequent investigations revealed her to have a TIFI-γ antibody and a metastatic colon adenocarcinoma. She was initially steroid responsive and her malignancy simultaneously responded to chemotherapy. A relapse of her malignancy was preceded by a flare in her dermatomyositis which proved to be non-responsive to steroids and further chemotherapy. Case description The patient presented to rheumatology at the age of 39 with a few-week history of a photosensitive rash on her face, upper chest and hands. This was followed by rapidly progressive symmetrical proximal and truncal muscle weakness and pain. She described dysphagia to solids and shortness of breath on exertion. She had a very short history of weight loss, attributed to reduced oral intake. She had no relevant past medical history and was taking no medications. Examination revealed power of 3/5 in both upper and lower limbs, a heliotrope rash with Gottrons papules with normal cardiovascular and respiratory examinations. CK at presentation was 3709. Haematology and biochemistry was otherwise normal. MRI thighs showed extensive myositis. ANA was positive with a positive TIFI-γ antibody. CT scan showed a proximal sigmoid mass with local and mediastinal lymphadenopathy and a 6mm lung nodule. Histology from a mediastinal node confirmed a metastatic adenocarcinoma. Initially, the patient was treated as an autoimmue dermatomyositis with pulsed IV methylprednisolone followed by high dose prednisolone. She responded rapidly both clinically and biochemically to steroids. Following the diagnosis of malignancy, she underwent a hemicolectomy from which she made an uneventful recovery. She then completed 12 cycles of oxaliplatin and 5FU chemotherapy, with interval CT scanning showing good partial response to treatment and she returned to work. One month after completing chemotherapy, whilst still taking prednisolone her rash reoccurred. This rapidly progressed despite an increase in her steroids and quickly became associated with weakness and further shortness of breath. CT showed a progression of her malignancy with carcinomatosis lymphangiitis. She received one cycle of Irinotecan before being admitted with neutropenic sepsis and progression of her cancer. At this time she decided to withdraw all treatment and died shortly afterwards at the age of 40, 18 months after her initial presentation. Discussion TIF1-γ antibodies were first identified in 2006 and are involved in cell regeneration, apoptosis and innate immunity. High levels of TIFI-Y are found in the nuclei of regenerating myofibres. They are associated with dermatomyositis and are found in between 13 – 31% of adults and 22 – 29% of children. There is a strong association with malignancy in those aged over 39 (positive predictive value of 58%, sensitivity 78%, specificity 89%). There are no case reports of malignancy associated with TIF1- Y antibodies in patients under the age of 39. Malignancy typically presents early in the course of dermatomyositis, being diagnosed at presentation or within 8 months. There are case reports of TIF1- Y antibodies co-existing with Mi2 antibodies, increasing malignancy risk. In younger patients this association with cancer is not seen but the antibody is associated with skin ulceration and chronic disease. It is hypothesised that differences in HLA regions and protein conformation may account for these different phenotypes. Patients typically have a lower CK and there is a higher incidence of amyopathic dermatomyositis compared with other myositis specific antibodies. Our patient was at the lower end of the risk spectrum for malignancy and had no localising symptoms for this. She was initially very steroid responsive, which again lowered our threshold for suspicion of malignancy. Indeed, her CT was requested on the basis of shortness of breath looking for interstitial lung disease rather than anything more sinister. Key learning points TIF1-γ antibodies have a strong association with malignancy in patients over the age of 39. Clinicians should have a high index of suspicion even in the absence of symptoms of malignancy. Malignancy associated dermatomyositis can be steroid responsive. A relapse of dermatomyositis should raise suspicion for a relapse of malignancy. Conflicts of interest The authors have declared no conflicts of interest.

Case of Metastasis of Alveolar Soft Part Sarcoma Lower Limb To Brain Diagnosed on Squash Cytology

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 108
Author(s):  
Sumat Ul Khurshid ◽  
Iqbal Lone ◽  
Imza Feroz ◽  
Wajahat Mir
Keyword(s):  
Lower Limb ◽  
Soft Part ◽  
Low Density ◽  
Parietal Region ◽  
Limb Weakness ◽  
Left Lower Limb ◽  
History Of ◽  
One Year ◽  
The Brain ◽  
Space Occupying Lesion

A 19‑year‑old male patient was admitted, after experiencing occasional headaches during the previous 6 months. The patient's headaches had become progressively more severe 1 month prior to admis­sion to hospital, and were associated with right upper limb weakness. As revealed by cranial computed tomog­raphy, a high‑density lesion was observed in the left parietal region [CT values, 52 Houns field units, (HU)] and a peripheral low‑density edematous zone was visible.(figure a) . The medical history of the patient included an indolent 4x4 cm subcutaneous iliac mass in the left lower limb from last one year, which the patient had neglected. Therefore, the patient was diagnosed as space occupying lesion brain. During surgery, a purplish‑red tumor was observed in the brain. Intraoperative crush cytology was asked for. JMS 2017;20(2):108

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