scholarly journals 13 year old Female with Progressive Pseudorheumatoid Dysplasia misdiagnosed as Juvenile idiopathic arthritis

2020 ◽  
Author(s):  
Anjumanara Anver Omar ◽  
Salman Ahmed ◽  
John Chris Rodrigues ◽  
Lawrence Owino
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Musculoskeletal Disorder ◽  
Joint Stiffness ◽  
Early Osteoarthritis ◽  
Bone Deformity ◽  
Rheumatology Clinic ◽  
Case Presentation ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
History Of ◽  
Chronic Rheumatic Disease

Abstract Background: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood and is of unknown aetiology. Progressive pseudorheumotoid dysplasia is a rare, autosomal recessively inherited, non-inflammatory musculoskeletal disorder caused by mutations occurring in the WISP3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalities, short stature, early osteoarthritis, and osteoporosis. The clinical features resemble juvenile idiopathic arthritis (JIA), and patients with PPD are usually misdiagnosed as JIA.Case Presentation: A 13 year old female presented to the rheumatology clinic with history of joint pains, bone pains and bone deformity for 5 years. Weight and Height were below the 3rd centiles. There was none tender swelling of metacarpophalangeal and interphalangeal joints and with scoliosis. Radiographs of the hands revealed widening of the epiphyses. With these findings Progressive Pseudorhematoid Dysplasia was suspected and genetic testing for WISP1, WISP2 and WISP3 was requested. A homozygous, likely pathogenic, variant was identified in WISP3 gene which confirmed our diagnosis.Conclusion: Progressive Pseudorhematoid Dysplasia is a rare form of spondylo-epi-metaphyseal dysplasia and clinically misdiagnosed as Juvenile Idiopathic arthritis. It’s important to consider PPD especially in patients with normal inflammatory markers who are being followed up for arthritis and not improving on anti-rheumatic intervention.

scholarly journals Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Anjumanara Anver Omar ◽  
Salman Ahmed ◽  
John Chris Rodrigues ◽  
Allan Kayiza ◽  
Lawrence Owino
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Signaling Pathway ◽  
Joint Stiffness ◽  
Unknown Etiology ◽  
Rheumatology Clinic ◽  
Case Presentation ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
History Of ◽  
Spondyloepimetaphyseal Dysplasia ◽  
Chronic Rheumatic Disease

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

scholarly journals Knowledge about juvenile idiopathic arthritis-associated uveitis: more frequent reminders are associated with higher patient and family uveitis knowledge

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Ashley M. Cooper ◽  
Elaine R. Flanagan ◽  
Tova Ronis ◽  
Baruch Goldberg ◽  
Ashley K. Sherman ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Pediatric Rheumatology ◽  
Knowledge Score ◽  
Demographic Variables ◽  
Chi Square ◽  
Rheumatology Clinic ◽  
History Of ◽  
The Mean ◽  
Eye Exams

Abstract Background Chronic anterior uveitis is a sight-threatening complication of juvenile idiopathic arthritis (JIA) and a primary contributor to long-term morbidity in people with JIA. Levels of knowledge about uveitis among JIA patients and their parents are unknown. A survey of JIA patients and parents was conducted to assess knowledge about uveitis complications and recommended screening. Methods A survey was developed consisting of six demographic questions, six arthritis/uveitis history questions, and nine uveitis knowledge questions. The survey was administered to JIA patients age 14 and older and parents of patients with JIA at three pediatric rheumatology practices and online through the Patients, Advocates, and Rheumatology Teams Network for Research and Service (PARTNERS) network. ANOVA, chi-square and Fisher’s exact tests were used to look for relationships between survey questions and demographic variables. Results Thirty-three patients and 111 parents completed the survey. Overall, 17.4% reported a history of uveitis, and 89.6% had heard of uveitis. The mean composite knowledge score was 6.46 ± 2.6 out of 9. Patients and parents with a history of uveitis had higher composite knowledge scores than their counterparts without a uveitis history (p = 0.01 and p < 0.01, respectively). Parents whose rheumatologist reminded them about eye exams at every visit had higher knowledge of the risk of blindness (p = 0.04), the risk for uveitis when arthritis is controlled (p = 0.02), the need for ongoing eye exams when off of medications (p = 0.01), and had a higher overall score (p = 0.02) than those who were reminded at some visits or not at all. Conclusions JIA patients and parents report variable levels of knowledge regarding uveitis complications and recommended screening. Frequent discussion between the rheumatology provider and family about uveitis screening is associated with higher uveitis knowledge. Incorporating detailed and frequent education about uveitis into rheumatology clinic appointments may improve early uveitis detection and visual outcomes.

scholarly journals Case Report: Post SARS-CoV2 Infection Erythema Nodosum

2021 ◽  
Author(s):  
Aida Askari Sarvestani ◽  
Shabnam Hajiani Ghotbabadi
Keyword(s):  
Immune Response ◽  
Case Report ◽  
Pediatric Rheumatology ◽  
Erythema Nodosum ◽  
Etiologic Factor ◽  
Medical Sciences ◽  
Rheumatology Clinic ◽  
Case Presentation ◽  
History Of ◽  
Pediatric Rheumatology Clinic

Abstract Background: Although, preliminary reports of Post SARS-CoV2 Infection Erythema Nodosum suggest it may be due to dysregulated immune response caused by coronavirus.Case presentation: The patient was a 9-year-old boy who referred to the pediatric Rheumatology clinic of Shiraz University of Medical Sciences due to bilateral painful erythematous nodules on his bilateral calves. He reported a history of fever from 4 days before his referral which was followed by erythema, warmth, stiffness, and swelling of his calves. The patient’s father had afflicted COVID-19 two months prior to the incidence. In his course of admission, COVID-19 serology tests were performed for him which was positive for SARS-CoV-2 IgG and negative for SARS-CoV-2 IgM.Conclusion: Another etiologic factor for EN might be coronaviruses such as SARS-CoV-2 which is important to be taken into consideration during the COVID-19 pandemic.

Aspergillus Spondylodiscitis After Spinal Stenosis Surgery: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  
Keyword(s):  
Antifungal Drugs ◽  
The Body ◽  
Lower Limbs ◽  
Lumbar Pain ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Death Case ◽  
Therapeutic Results ◽  
History Of ◽  
Probable Diagnosis

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.

An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

2020 ◽  
pp. 1-5
Author(s):  
Anton Stift ◽  
Kerstin Wimmer ◽  
Felix Harpain ◽  
Katharina Wöran ◽  
Thomas Mang ◽  
...  
Keyword(s):  
Case Report ◽  
Sigmoid Colon ◽  
Immunohistochemical Staining ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Endoscopic Examination ◽  
Case Presentation ◽  
Idiopathic Megacolon ◽  
History Of ◽  
Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

Pulmonary Rehabilitation After Lobectomy On Pulmonary Aspergilloma: Case Report

2019 ◽  
pp. 35-41
Author(s):  
Andwi Setiawan Kokok ◽  
Selly Christina Anggoro ◽  
Siti Chandra Widjanantie
Keyword(s):  
Pulmonary Rehabilitation ◽  
Peak Flow ◽  
Case Presentation ◽  
Rehabilitation Programs ◽  
Abnormal Chest ◽  
History Of ◽  
Postural Correction ◽  
Chronic Pulmonary Aspergillosis ◽  
Pulmonary Aspergilloma ◽  
Breathing Retraining

Introduction: Complete resection of aspergilloma in chronic pulmonary aspergillosis (CPA), may has several health problem after surgery berupa sesak napas, batuk yang tidak efektif. Methods: A case presentation of 45 years old woman, after lobectomy on right upper of lung due to aspergilloma, with history of cough and haemoptysis for 3 months. Pulmonary Rehabilitation were breathing retraining exercise (BE), mobilization technique (MT), chest mobility exercise (CM), active cycle breathing technique (ACBT), postural correction exercise (PC) for three weeks. Results: There were dyspnea, peak flow rate (PFR:60-70-60), peak cough flow (PCF: 70-90-60 L/m), and abnormal chest expansion (CE: 2.5 – 3 – 2) cm. After three weeks of Pulmonary Rehabilitation, there were no dyspnea, increased the PCF: 193L/m, and CE: 2.5-4 -3. Conclusion: Pulmonary Rehabilitation programs for three weeks were relieved dyspnea, increased cough capacity and CE.

Safety of a Clozapine Trial Following Quetiapine-Induced Leukopenia: A Case Report

2019 ◽  
Vol 14 (1) ◽  
pp. 80-83 ◽  
Author(s):  
Asma H. Almaghrebi
Keyword(s):  
Treatment Options ◽  
Young Female ◽  
Similar Reaction ◽  
Careful Monitoring ◽  
Treatment Resistant ◽  
Blood Cell Count ◽  
Antipsychotic Medications ◽  
Case Presentation ◽  
Clozapine Treatment ◽  
History Of

Background: The clozapine-derivative quetiapine has been shown in some cases to cause leukopenia and neutropenia. Case Presentation: We reported on a case of a young female diagnosed with treatment-resistant schizophrenia. After failed trials of three antipsychotic medications and despite a history of quetiapineinduced leukopenia, clozapine treatment was introduced due to the severity of the patient’s symptoms, the limited effective treatment options, and a lack of guidelines on this issue. Result: Over a ten-week period of clozapine treatment at 700 mg per day, the patient developed agranulocytosis. Her white blood cell count sharply dropped to 1.6 &#215; 10<sup>9</sup> L, and her neutrophils decreased to 0.1 &#215; 10<sup>9</sup> L. There had been no similar reaction to her previous medications (carbamazepine, risperidone, and haloperidol). Conclusion: The safety of clozapine in a patient who has previously experienced leukopenia and neutropenia with quetiapine requires further investigation. Increased attention should be paid to such cases. Careful monitoring and slow titration are advisable.

scholarly journals Faecopneumothorax due to missing diaphragmatic hernia: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Resul Nusretoğlu ◽  
Yunus Dönder
Keyword(s):  
Computed Tomography ◽  
Diaphragmatic Hernia ◽  
Colon Resection ◽  
Emergency Laparotomy ◽  
Hernia Sac ◽  
Case Presentation ◽  
Abdominal Tenderness ◽  
History Of ◽  
Diaphragmatic Hernias ◽  
Tomography Scan

Abstract Background Diaphragmatic hernias may occur as either congenital or acquired. The most important cause of acquired diaphragmatic hernias is trauma, and the trauma can be due to blunt or penetrating injury. Diaphragmatic hernia may rarely be seen after thoracoabdominal trauma. Case presentation A 54-year-old Turkish male patient admitted to the emergency department with abdominal pain and dyspnea ongoing for 2 days. He had general abdominal tenderness in all quadrants. He had a history of a stabbing incident in his left subcostal region 3 months ago without any pathological findings in thoracoabdominal computed tomography scan. New thoracoabdominal computed tomography showed a diaphragmatic hernia and fluid in the hernia sac. Due to respiratory distress and general abdominal tenderness, the decision to perform an emergency laparotomy was made. There was a 6 cm defect in the diaphragm. There were also necrotic fluids and stool in the hernia sac in the thorax colon resection, and an anastomosis was performed. The defect in the diaphragm was sutured. The oral regimen was started, and when it was tolerated, the regimen was gradually increased. The patient was discharged on the postoperative 11th day. Conclusions Acquired diaphragmatic hernia may be asymptomatic or may present with complications leading to sepsis. In this report, acquired diaphragmatic hernia and associated colonic perforation of a patient with a history of stab wounds was presented.

scholarly journals A case of sigmoid volvulus in an unexpected demographic

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Mohammad Saba ◽  
Joshua Rosenberg ◽  
Gregory Wu ◽  
Gudata Hinika
Keyword(s):  
Abdominal Pain ◽  
Severe Pain ◽  
Rare Case ◽  
Young Female ◽  
Sigmoid Volvulus ◽  
Case Presentation ◽  
Operative Complications ◽  
History Of ◽  
Male Sex ◽  
Emergent Laparotomy

Abstract Background A sigmoid volvulus occurs when a segment of the colon twists upon its mesentery. This infliction is associated with old age, multiple co-morbidities, and the male sex. We present a rare case of sigmoid volvulus that occurred in a healthy young female. Case presentation A 28-year-old female presented with a one week history of constipation and abdominal pain. Her symptoms suddenly worsened and became associated with vomiting and severe pain. A focused history taking and physical examination showed peritoneal signs that led to timely diagnostic imaging to be implemented. Computed tomography (CT) of the abdomen was consistent with sigmoid volvulus. Our patient underwent emergent laparotomy with a sigmoidectomy and recovered with no post-operative complications. Conclusion This case report emphasizes the importance of clinicians maintaining a sigmoid volvulus as a rare, yet important differential when approaching abdominal pain in young healthy patients.

scholarly journals Spontaneous haemorrhage of an adrenal angiomyolipoma: case report

2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Danielle Whiting ◽  
Ian Rudd ◽  
Amit Goel ◽  
Seshadri Sriprasad ◽  
Sanjeev Madaan
Keyword(s):  
Case Reports ◽  
Case Presentation ◽  
Open Adrenalectomy ◽  
Large Size ◽  
History Of ◽  
Loin Pain ◽  
Benign Tumours ◽  
Spontaneous Haemorrhage ◽  
Mesenchymal Tumours

Abstract Background Angiomyolipomas are rare mesenchymal tumours arising from the perivascular epithelioid cells consisting of variable amounts of adipose, thick-walled blood vessels and smooth muscle cells. These benign tumours commonly occur in the kidney with only a few case reports of adrenal angiomyolipomas which have the potential to reach a large size and haemorrhage. Case presentation A 45-year-old lady presented with a 3-week history of right loin pain, nausea and vomiting. A CT scan revealed a right adrenal angiomyolipoma measuring 6.3 × 6.8 cm with associated haemorrhage. The lesion was successfully treated with right open adrenalectomy, and histology confirmed the diagnosis of adrenal angiomyolipoma. The patient remained well with no evidence of recurrence at the 36-month follow-up. Conclusion Adrenal angiomyolipomas are rare benign tumours that have the ability to reach a large size and potential to bleed. Here, we report the second case of spontaneous haemorrhage in an adrenal angiomyolipoma, which was successfully treated with open adrenalectomy.

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