scholarly journals P51 Is it injury or inflammation: teenage boy with back pain

Rheumatology ◽  
2019 ◽  
Vol 58 (Supplement_4) ◽  
Author(s):  
Samundeeswari Deepak ◽  
Tracey Dandy ◽  
Rachel Isles

Abstract Background A 14 year-old boy was referred by an orthopaedic colleague at the district hospital for evaluation of ankylosing spondylitis. The child was previously fit and well. His symptoms reported at the referral was back pain and also possibility of foot drop on the right ankle. His dad had ankylosing spondylitis and was on biologic treatment. Also, there was significant history of autoimmunity in other family members. Methods During the initial consultation, we revisited the history. The boy reported that main symptoms were recurrent popping sensation of his right side shoulder associated with pain and burning sensation on the shoulder which usually settles after an hour. He is sporty boy and plays regular rugby, football and used to throw discus. He denied any history of injury or illnesses preceding his symptoms. There was past history of fracture of right ankle on two occasions managed conservatively. There were no other systemic symptoms. On examination, the child was afebrile and systemically looked well. There was no lymphadenopathy, mouth ulcers or clubbing. His cardio respiratory examination was normal. Abdomen was soft with no organomegaly. He was noted to have winging of scapula on the right side and weakness of the abductor muscles on the right side shoulder. There was wasting of muscles around the right ankle. He was noticed to have bilateral cavovarus and high arched feet. There was scoliosis at the thoracic and lumbar level. His muscle tone, power and reflexes were all normal. Results With his clinical presentation of winging of scapula, long thoracic nerve palsy was considered and he was referred to local physiotherapy. MRI spine done at local hospital was reviewed in the MSK radiology meeting and this showed no evidence of ankylosing spondylitis and confirmed scoliosis. His blood tests showed normal full blood count, liver and kidney function, raised creatinine kinase of 358 and HLA B27 positive. The repeat creatinine kinase was normal (153).The nerve conduction study of both the upper and lower limbs were normal. He was also seen by the neurology team. Further discussion with sport medicine colleagues and advised to continue physiotherapy. On the review 3 months later, his symptoms were much improved. Conclusion The presentation of a teenage boy with back pain and family history of ankylosing spondylitis warrants further evaluation. Thorough history, examination and early referral to specialist centre is beneficial for appropriate management of complex situations like this. Conflicts of Interest The authors declare no conflicts of interest.

Author(s):  
Tony El Murr

A 59 year old male with a past medical history of cholecystectomy and essential hypertension, presented to the emergency department with severe back pain, abdominal discomfort, poor appetite, generalized fatigue and progressive weight loss of 10 kgs over a three-month period. He has never been a smoker and drinks alcohol occasionally. He has no known allergies and no familial history of cancer. His current home medication includes beta blocker; angiotensin receptor blocker and low dose acetylsalicylic acid. His back pain started two months prior to presentation; it is not well localized to specific vertebra, not irradiating to lower limbs and sometimes related to weight lifting and cough. It is rarely exacerbated at night. His orthopedic surgeon attributed it to osteoarthritis since the patient used to practice hard manual work and weights lifting at his shop. He has been treated since that time with NSAIDs, muscle relaxant and opioids without complete analgesic response. At presentation, he had no fever, chills or night sweats. He had no urinary or sexual complaints that would suggest prostatic disease and was otherwise asymptomatic. The physical examination showed diffuse pain on lumbar vertebral percussion and abdominal tenderness in the right upper quadrant. He has no skin lesions and no palpable peripheral lymph nodes. His neurologic examination was also normal. On admission, significant laboratory findings showed hemoglobin 11.8 g/dl, platelets of 97,000 k/ul, white blood count 4,400 k/ul, ESR=40, creatinine 0.4 mg/dl,CRP 7.5 mg/L, lactate dehydrogenase 2256 U/L, alanine aminotransferase (ALAT) 70 U/L, gamma-glutamyl transferase (GGT) 1500 U/L, total bilirubin 2.32 mg/dl, and a creatine kinase (CK) 167 U/L. Prostatic specific antigen (PSA) was normal and equal to 1.17 ng/ml. Peripheral smear displayed normal pattern and thyroid tests were all within normal ranges. He was negative for salmonellosis, brucellosis and HIV. Tuberculin PPD test was negative as well. His chest X-ray was normal and abdominopelvic ultrasound showed only multiple liver nodules and mild prostate hypertrophy without ascites or significant abdominal lymph nodes. Lumbar MRI done one week before his admission revealed multiple vertebral lytic lesions without spinal cord compression. PET/CT done on the third day at hospital revealed a significant uptake of radiotracer by multiple small nodules in the right lung, in the liver and by multiple lymph nodes within the abdominal cavity. Moreover there were many lytic lesions in the dorsal and lumbar vertebrae. Surprisingly, the scan also showed focal, intense uptake of the prostate with a SUVmax of 8, 28 with evidence of seminal vesicles invasion. Both gastroscopy and colonoscopy was normal as well as his brain MRI. Ultrasound-guided liver nodules biopsies performed on the fifth day after stopping the acetylsalicylic acid revealed neuroendocrine small cell carcinoma as it showed immunohistochemical (IHC) positivity for synaptophysin and CD56. IHC was negative for TTF1 and PSA. Ultrasound-guided biopsy of the prostate was not performed for medical reasons as on his hospital day 7, the patient started feeling numbness and muscle weakness in his lower limbs more severe on the left side associated with urinary incontinence and revealing a spinal cord compression by secondary bone lesions. Regarding this rapidly progressive disease, high dose dexamethasone subcutaneous therapy and ten sessions of focused proton beam radiotherapy has been conducted on daily basis to release the spinal cord compression without significant improvement. Meanwhile, and based on liver biopsy findings, treatment by octreotide 100mg S/C twice daily was started, followed by chemotherapy with Carboplatin, Etoposide, and Atezolizumab (TECENTRIQ) 1200mg. Few days after, the patient developed severe prolonged pancytopenia requiring blood and platelets transfusions and treatment with double dose of granulocyte stimulating growth factor. His prolonged neutropenia was complicated by CMV colitis with unretractable diarrhea, bilateral pneumonia and pseudomonas aeroginosa septicemia. After one month of large spectrum antibiotics, antiviral and antifungal treatment, and while he was still neutropenic, bone marrow biopsy revealed severe infiltration by neuroendocrine small cell carcinoma. The patient was still deteriorating clinically and showing further weight and appetite loss, total muscle weakness and asthenia. At this point, he was no longer a candidate for chemotherapy but only symptomatic treatment was maintained. He died 45 days after his admission.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Jyoti Bakshi ◽  
Clare Batten

Abstract Background/Aims  A 62-year-old accountant was referred to the metabolic bone clinic with a 2 year history of thoracic back pain and a persistently raised ALP. There were no associated red flags for her back pain. She had a history of a gluteal lump, thought to be benign, for which she had declined excision. She has hypertension and had a previous navicular fracture. Medications included bendroflumethiazide and Adcal D3. She had restriction in neck movements and was tender to percussion in the thoracic spine. There was no proximal weakness or focal neurology. Systems and joint exam were unremarkable. Methods  The case is discussed below. Results  Salient abnormal results on presentation were a raised ALP of 207 and corrected calcium of 2.34. PTH was elevated at 8.2 (NR:1.6-6.9), Vitamin D 79 and a low phosphate of 0.34 (NR:0.8-1.50). Alkaline phosphatase isoenzymes showed the raised level came from bone. Protein and urine electrophoresis were normal. A bone density scan was normal, and a recent thoracic MRI showed only degenerative change. An isotope bone scan was requested and was reported to show increased activity in the nasal bone, maxilla and both orbits, raising the possibility of Paget’s disease. However, when reviewed in the Radiology meeting with a skull x-ray, the appearances were not felt to be in keeping with Paget’s. Despite physiotherapy, hydrotherapy, acupuncture and neuropathic medication the patient’s back pain continued. Her phosphate remained low and her calculated tubular reabsorption of phosphate from a 24h urine collection (TmP/GFR) was low at 0.42mmol/l (NR 0.80-1.35). She was started on phosphate replacement and calcitriol, and Adcal D3 was continued. The Fibroblast Growth Factor (FGF) 23 levels were sent and came back significantly elevated at 1380 (NR < 100). A 68Ga DOTA-TATE scan (whole body PET/CT scan), confirmed the right gluteal lump as the source of the FGF 23. The patient went on to have an excision biopsy and histology confirmed a mesenchymal tumour of the right buttock. Her phosphate replacement was gradually weaned, but on reducing the dose phosphate levels dropped and her symptoms returned. The repeat TmP/GFR was again low at 0.61, and FGF 23 levels were still raised at 204. A repeat 68Ga DOTA-TATE scan, 4 years after the first one, showed recurrence of the right gluteal lesion and a possible small lesion in the left gluteal muscle. She has been sent for further excision. Conclusion  Tumour induced osteomalacia (TIO) is a rare condition and should be considered in cases of hypophosphataemia. Classical symptoms are proximal weakness and muscle and bone pain. They are typically associated with small benign tumours (most commonly mesenchymal tumours) which may be difficult to find. Excision is curative but if small amounts of tumour remain, relapses may occur. Disclosure  J. Bakshi: None. C. Batten: None.


2018 ◽  
Vol 31 (Supplement_1) ◽  
pp. 78-78 ◽  
Author(s):  
Kheng Tian Lim

Abstract Background Odynophagia can be caused by infective and non-infective inflammatory processes, benign and malignant esophageal disorders such as achalasia, gastro-esophageal reflux disease and carcinoma. Methods We described two unusual cases of odynophagia and their individual management. Results Case 1 is a 21 year-old Indian man presented with 2 days history of odynophagia after taking doxycycline capsules indicated for acne. An esophagogastroduodenoscopy (OGD) was performed and showed multiple mid esophageal ulcers. Esophageal biopsy taken showed inflammatory ulcer slough with no fungal infection, dysplasia or malignancy. Doxycycline was stopped and patient recovered with complete resolution of odynophagia. Case 2 is a 55 year-old Chinese man presented with 1 day history of odynophagia and severe chest pain after eating a bowl of hot fish soup. A CT Thorax was performed which showed a localised perforation of the right wall of the esophagus with extraluminal gas posterior to the trachea. An urgent OGD was performed and an L-shaped fish bone was removed successfully and an endoclip was applied to close the puncture hole of esophagus. Patient made a full recovery without any mediastinal infection. Conclusion Odynophagia from mid esophageal ulcers secondary to doxycycline intake should be recognized and can be easily managed by stopping the antibiotics with complete resolution of the symptom. Fish ingestion leading to sharp bone induced penetrating esophageal injury can be safely managed by endoscopic removal and endoclip application. Disclosure All authors have declared no conflicts of interest.


2021 ◽  
Author(s):  
Haron Obaid ◽  
Stephan Milosavljevic ◽  
Udoka Okpalauwaekwe ◽  
Brenna Bath ◽  
Catherine Trask ◽  
...  

Abstract Background. Detection of ankylosing spondylitis (AS) in the preclinical stage could help prevent long term morbidity in this patients’ population. The aim of this study was to examine the prevalence of active sacroiliitis in first-degree relatives of AS patients using MRI with clinical and laboratory correlations as these patients may benefit from MRI screening and early treatment.Methods. Seventeen first-degree relatives of AS patients were recruited prospectively. AS screening questionnaires (Ankylosing Spondylitis Disease Activity Score, Bath Ankylosing Spondylitis Disease Activity Index & Visual Analogue Scale), blood tests (C-Reactive Protein, HLA-B27), and an MRI of the SIJs were taken. Two musculoskeletal radiologists interpreted the MRI scans, and two physiotherapists applied four symptom provocation tests (Gaenslen's test, posterior pelvic pain provocation test, Patrick's Faber (PF) test and palpation of the long dorsal SIJ ligament test), and two functional movement tests (active straight leg raise and Stork test). Results. Seven (41%) of the 17 participants demonstrated MRI evidence of active sacroiliitis. Of the 7 participants with active sacroiliitis, two (29%) had no history of recent low back pain (LBP), two (29%) had negative HLA-B27, and one (14%) participant had neither back pain nor positive HLA-B27. The Cohen's Kappa score for the interobserver agreement between the radiologists was 1.00 (p-value <0.0001). Despite fair to strong between therapist agreement for the physical test outcomes (Kappa 0.26 to 1.00), the physical test results per se did not have any predictive association with a positive MRI.Conclusions. MRI detected active sacroiliitis in 41% of first-degree relatives of AS patients. The lack of a history of prior LBP or positive HLA-B27 in active sacroiliitis participants might suggest that MRI screening for this high-risk population is warranted; however, further larger studies are needed to help elucidate its cost-effectiveness and long-term benefits.


2010 ◽  
pp. 3603-3616 ◽  
Author(s):  
J. Braun ◽  
J. Sieper

The spondyloarthritides are a group of inflammatory rheumatic diseases with predominant involvement of axial and peripheral joints and entheses, together with other characteristic clinical features, including inflammatory back pain, sacroiliitis, peripheral arthritis (mainly in the legs), enthesitis, dactylitis, preceding infection of the urogenital/gastrointestinal tract, psoriatic skin lesions, Crohn-like gut lesions, anterior uveitis, and a family history of Spondyloarthritis. They are the second most frequent inflammatory rheumatic diseases after rheumatoid arthritis....


2016 ◽  
Vol 8 (1) ◽  
pp. 5-12
Author(s):  
Jana Kazandjieva ◽  
Elisaveta Stefanova ◽  
Zdravka Todorova ◽  
Malena Nikolova Gergovska ◽  
Kristina Semkova

Abstract Congenital generalized hypertrichosis, in its most common form, is idiopathic. In the absence of underlying endocrine or metabolic disorders, congenital generalized hypertrichosis is rare in humans, affecting as few as one in a billion individuals and may be an isolated condition of the skin, or a component feature of other disorders or syndromes. Congenital generalized hypertrichosis terminalis is an extremely rare condition, a distinct subset of disorders with congenital hypertrichosis, presenting with excessive hair as the primary clinical feature. Congenital generalized hypertrichosis terminalis is characterized by universal excessive growth of pigmented terminal hair and often accompanied with gingival hyperplasia and/or a coarse face. Gingival hyperplasia may be delayed even until puberty. Its pathogenesis may be caused by one of the following mechanisms: conversion of vellus to terminal hairs and/or prolonged anagenetic stage, and/or increase in the number of hair follicles. Since the Middle Ages, less than 60 individuals with congenital hypertrichosis terminalis have been described, and, according to the most recent estimates, less than 40 cases were documented adequately and definitively in the literature. Recent articles identified congenital generalized hypertrichosis terminalis as a genomic disorder. This report is a follow up of a six-year-old boy born from the first normal pregnancy of non-consanguineous parents, starting from delivery. Our investigation revealed a history of: excessive hair growth and a coarse face from birth; increased body weight with high blood pressure and gingival hyperplasia at the age of four months. The parents denied any medication or chemical intake during pregnancy, as well as a history of hypertrichosis in their families. The child had a congenital hydronephrosis of the right kidney. Ultrasound and magnetic resonance imaging revealed severe congenital hydronephrosis of the right kidney and suspicion of hypertrophy of the left adrenal gland suggestive of an adenoma. The follow up showed normal values of hormones which excluded adrenal tumor. At the age of 8 months the patient underwent right-sided nephrectomy after several urinary infections. The child was admitted again to our Clinic at the age of four years, with generalized hypertrichosis, gingival hyperplasia and a coarse face without any other pathological signs. He has had a normal intellectual development, but was extremely shy, unconfident and dependent on his mother. The relevant laboratory investigations showed normal full blood count, biochemical, hormonal test results and normal function of the single kidney. Molecular chromosome analysis revealed heterozygous deletion on chromosome 17q12 region. Prolonged follow-up with routine checkups every 6–12 months was advised, including regular outpatient appointments particularly with an endocrinologist, because of the risk of diabetes mellitus, and with a nephrologist, for control of renal function. Laser hair removal was suggested and the patient underwent one procedure with long pulsed neodynium:yttrium-albumin-garnet laser with a wavelength of 1064 nm. The procedure was effective and well-tolerated and the treatment course is currently ongoing. Although it is now believed that most people with congenital generalized hypertrichosis have an unknown genetic defect, up to date, a clear specific molecular abnormality has not been proved. It has been suggested that the distal portion of human chromosome 17q may contain dosage-sensitive genes that contribute to excessive hair growth. We present a sporadic case of an extremely rare congenital generalized hypertrichosis terminalis in a six-year-old boy born to non-consanguineous parents, with gingival hyperplasia, a coarse face and congenital hydronephrosis, with heterozygous deletion on chromosomal region 17q12 consistent with his renal phenotype.


Author(s):  
Stefan Siebert ◽  
Sengupta Raj ◽  
Alexander Tsoukas

Low back pain is a leading cause of disability worldwide. The prevalence of inflammatory back pain (IBP) has been calculated to be in the range 8–15% in a UK primary care population and 5–7% in a US population-based cohort. IBP rates are significantly higher in patients with psoriasis, uveitis, or inflammatory bowel disease than the general population. There is a paucity of good epidemiological studies to define the true incidence and prevalence of ankylosing spondylitis (AS), axial spondyloarthritis (axSpA), and spondyloarthritis (SpA), with wide variation as a result of geographic, demographic and methodological factors. The global prevalence estimates range from 0.01–0.2% for AS, to 0.32–0.7% for axSpA and around 1% for SpA overall. The global incidence estimates range from 0.44–7.3 cases per 100,000 person-years for AS to 0.48–62.5 cases per 100,000 person-years in SpA. The demographics and natural history of disease progression are also discussed.


Author(s):  
SK Baker

Background: Neurapraxia is considered to be a temporary disorder of peripheral nerve conduction due to trauma that does not cause axonopathy. However, patients with radiculopathy, confirmed by MRI, who may not have active axonal damage with evidence of spontaneous activity may still report transient give-way weaknesss. In the absence of active changes on intramuscular recording a neurophysiologic consultation may fail to substantiate any significant neurologic concern. This report documents and objectifies prone positioning-induced radicular neurapraxic weakness in an elderly man. Methods: An 83-year-old gentleman was referred for neuromuscular evaluation with regards to peripheral neuropathy. He had a history of low back pain and MRI evidence of multilevel DDD and discogenic neuroforaminal narrowing. Strength testing was performed by Biodex evaluation. Routine electrophysiologic assessments were performed. Results: On neurologic examination proximal strength iwas normal with grade 4 dorsiflexion strength. Stocking-glove loss to pinprick was absent. Preliminary objective testing of the right quadriceps revealed a peak torque of 87.1 Nm. Immediately after lying prone for 3 minutes (for paraspinal EMG), his power dropped to 33.7 Nm. Strength fully recovered by 36 hrs. Conclusions: This case documents evidence of a 61% reversible reduction in torque in the right quadriceps after prone lying. Electromyographers need to be cautious with radiculopathy patients during paraspinal testing.


Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 5256-5256
Author(s):  
Mariane Cristina Flores Nascimento ◽  
Karina Kleinfelder-Fontanesi ◽  
Fernanda Loureiro de Andrade Orsi ◽  
Steven H Seeholzer ◽  
Harry Ischiropoulos ◽  
...  

Abstract Abstract 5256 BACKGROUND: Deep venous thrombosis (DVT) is multi-causal disease associated to a high morbi-mortality due to complications as pulmonary embolism and post-flebitic syndrome. The incidence is about 20 to 30%, and 25% of the patients will present recurrence in 5 years. The identification of new risk factors is important in clinical practice to prevent new thrombotic events. The role of the platelets on DVT is still not well defined. AIM: The objective of this study was to analyze the hole proteins profile of platelets obtained from DVT patients and compare to the same matherial derived from healthy controls. PATIENTS: peripheral blood samples were collected from 3 spontaneous DVT patients and from 1 sibling and 1 neighbor for each patient in order to minimize the genetic and environmental interferences. These patients presented spontaneous and recurrent episodes of lower limbs proximal DVT and all of them mentioned a familiar history of coagulation disorders. METHODS: the platelets were washed, lysed, and the proteins were alkylated, reduced, precipitated with acetone and hydrolyzed by trypsin. 100mg of peptides were then separated by hydrophobicity using HPLC, and 8 fractions were obtained and directed to the LTQ-Orbitrap mass spectrometer. The proteins search was performed by Sorcerer-SEQUEST. RESULTS: We identified 5 proteins that were present on patients and absent in all the controls: Apolipoprotein A1 Binding-Protein, Coatomer (z1 sub-unit), Estradiol 11–17-b Dehydrogenase, Leucotriene A-4 Hydrolase and Sorbitol Dehydrogenase. Western-Blotting was performed with specific antibodies and validated the results. CONCLUSIONS: with this study it was possible to identify proteins up to date non-related to the physiopathology of DVT, that could be involved with metabolic and inflammatory processes. Disclosures: No relevant conflicts of interest to declare.


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