scholarly journals Isotretinoin-induced Unilateral Sacroiliitis in a Patient with a Family History of Ankylosing Spondilitis and HLA B27 Positivity: A Case Report

Author(s):  
S Kibar ◽  
Ö Gunduz ◽  
BT Ayanoğlu
2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
James Brighouse ◽  
Nina Mossop ◽  
Milly Munn ◽  
Robert Schneider ◽  
Kathryn Shepherd ◽  
...  

Abstract Case report - Introduction Back pain is highly prevalent, affecting 40% of the paediatric population, with non-inflammatory causes accounting for the majority cases. However, the presentation of inflammatory back pain can be non-specific and a high degree of suspicion is necessary, particularly with the presence of risk factors such as HLA B27 positivity and personal and family history of psoriasis, inflammatory bowel disease, and acute uveitis. Case report - Case description A previously well 14-year-old Caucasian girl was referred due to persistent lower back pain, HLA B27 positivity, and a history of acute uveitis. She reports that her pain began around the time of a road traffic accident two years previously. The pain was persistent but varied in intensity, worsened throughout the day, on bending forwards, and during bumpy car journeys, and on occasion was mildly relieved by ibuprofen. She later also developed neck pain and right lateral thigh pain. Despite her pain she was able to continue walking and swimming but found that she had to stop trampolining and cycling. She had recently been treated for a painful, red eye with topical treatment. On examination she had full range of movement of her spine and tenderness over her sacroiliac joints and plantar fascia insertion points, as well as more widespread muscle tenderness. Her bloods demonstrated normal inflammatory markers and MRI of her lumbar spine, pelvis, and sacroiliac joints showed a subtle disc degeneration with bulge at L5/S1 without nerve root compression or evidence of inflammation. An MDT approach was taken to manage her pain, with input from occupational therapy, discussing pain processing, pacing, pain management strategies, and sleep hygiene, and physiotherapy including hydrotherapy and a home exercise programme. Despite these interventions, her pain progressed and resulted in further functional impairment. Following MDT discussion, an MRI, already repeated after her first appointment, was performed for the third time which on this occasion demonstrated bilateral sacroiliitis with subchondral sclerosis, erosions, and bone marrow oedema. A diagnosis of enthesitis-related arthritis was made and treatment with diclofenac and etanercept was initiated. Case report - Discussion With HLA B27 positivity and a history of acute uveitis, she was clearly at risk of developing inflammatory arthritis, but without evidence of inflammation on imaging or bloods, treatment with immunomodulatory drugs was not indicated. With a high prevalence of non-inflammatory musculoskeletal pain in adolescent females and the significant rate of persistent chronic pain into adulthood for untreated patients, early MDT input in this patient’s management was essential. While management of non-inflammatory pain is primarily driven by therapists, this case highlights the benefit of communication within the MDT and the important role of the medical team, in regularly reviewing the diagnosis, particularly where symptoms evolve or do not follow the expected clinical course. Case report - Key learning points In the presence of risk factors for spondyloarthropathy, a diagnosis of non-inflammatory back pain needs to be regularly reviewed and evolving symptoms, clinical deterioration, and patient or parent concerns need to be addressed. Although important, HLA B27 positivity has an overall penetrance of less than 20% and therefore does not exclude a diagnosis of non-inflammatory back pain. However, when coupled with history of uveitis or significant family history, repeat imaging should be considered.


2005 ◽  
Vol 129 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Shveta Mehra ◽  
Moonja Chung-Park

Abstract We report a case of gallbladder paraganglioma that was discovered during nonrelated surgery. Retrospective study disclosed a family history of pheochromocytoma. The occurrence of gallbladder paraganglioma in the presence of family history of endocrine neoplasia supports that gallbladder paraganglioma may indeed occur as a part of the multiple endocrine neoplasm syndrome. Gallbladder paraganglioma is a rare tumor, and so far to our knowledge only 6 cases have been reported in the literature. Three cases were discovered incidentally during cholecystectomy for cholelithiasis, 2 presented with right upper quadrant pain, and 1 manifested with gastrointestinal bleeding. We herein review all reported cases of paraganglioma of gallbladder and biliary system.


2001 ◽  
Vol 7 (3) ◽  
pp. 559-561
Author(s):  
G. Theodoulou ◽  
G. Milner ◽  
A. Jumaian

1999 ◽  
Vol 8 (6) ◽  
pp. 359-372 ◽  
Author(s):  
Tamsen Caruso Brown ◽  
Judy Garber ◽  
Michael Muto ◽  
Katherine A. Schneider

Rheumatology ◽  
2019 ◽  
Vol 58 (9) ◽  
pp. 1649-1654 ◽  
Author(s):  
Miranda van Lunteren ◽  
Désirée van der Heijde ◽  
Alexandre Sepriano ◽  
Inger J Berg ◽  
Maxime Dougados ◽  
...  

Abstract Objectives A positive family history (PFH) of spondyloarthritis, in particular a PFH of AS or acute anterior uveitis, is associated with HLA-B27 carriership in chronic back pain patients. As it is unknown, the study aimed to investigate if a PFH contributes to diagnosing axial spondyloarthritis (axSpA) once HLA-B27 status is known. Methods In axSpA-suspected patients from the Assessment of SpondyloArthritis international Society (ASAS), DEvenir des Spondyloarthropathies Indifférenciéés Récentes (DESIR) and SPondyloArthritis Caught Early (SPACE) cohorts, logistic regression analyses were performed with HLA-B27 status and PFH according to the ASAS definition (ASAS-PFH) as determinants and clinical axSpA diagnosis as outcome at baseline. Analyses were repeated with a PFH of AS or acute anterior uveitis. Results In total, 1818 patients suspected of axSpA were analysed (ASAS n = 594, DESIR n = 647, and SPACE n = 577). In patients from the ASAS, DESIR and SPACE cohorts, respectively 23%, 39% and 38% had an ASAS-PFH, 52%, 58% and 43% were HLA-B27 positive, and 62%, 47% and 54% were diagnosed with axSpA. HLA-B27 was independently associated with an axSpA diagnosis in each cohort but an ASAS-PFH was not [ASAS cohort: HLA-B27 odds ratio (OR): 6.9 (95% CI: 4.7, 10.2), ASAS-PFH OR: 0.9 (95% CI: 0.6, 1.4); DESIR: HLA-B27 OR: 2.1 (95% CI: 1.5, 2.9), ASAS-PFH OR: 1.0 (95% CI 0.7, 1.3); SPACE: HLA-B27 OR: 10.4 (95% CI: 6.9, 15.7), ASAS-PFH OR: 1.0 (95% CI: 0.7, 1.5)]. Similar negative results were found for PFH of AS and acute anterior uveitis. Conclusion In three independent cohorts with different ethnical backgrounds, ASAS, DESIR and SPACE, a PFH was not associated independently of HLA-B27 with a diagnosis of axSpA. This indicates that in the vast majority of patients presenting with back pain, a PFH does not contribute to the likelihood of an axSpA diagnosis if HLA-B27 status is known.


2005 ◽  
Vol 8 (2) ◽  
pp. 240-244 ◽  
Author(s):  
Chris Wixom ◽  
Amy E. Chadwick ◽  
Henry F. Krous

We report a case of sudden, unexpected death associated with meningioangiomatosis in a 13-year-old, previously healthy male without a history of seizures, neurologic deficits, or clinical stigmata of neurofibromatosis. There was no family history of neurofibromatosis. The postmortem examination showed a 5-cm mass involving the right posterior frontal and orbital frontal cortex that had microscopic features diagnostic of meningioangiomatosis. Because no other cause of death was found, we postulate that he likely died as a result of a seizure secondary to meningioangiomatosis.


Neurosurgery ◽  
1983 ◽  
Vol 13 (6) ◽  
pp. 692-694
Author(s):  
Nancy E. Epstein ◽  
Alan D. Rosenthal ◽  
Jay Selman ◽  
Michael Osipoff ◽  
Roger A. Hyman

Abstract Intracranial gliomas are found in association with von Recklinghausen's neurofibromatosis. However, few truly neonatal lesions have been identified and studied. This case report concerns a 4-month-old child who was found to have a massive thalamic glioma of moderate grade. Four paternal generations had suffered from different manifestations of this transmissible autosomal-dominant (Ad) phakomatosis.


1988 ◽  
Vol 153 (5) ◽  
pp. 689-692 ◽  
Author(s):  
J. C. Powell ◽  
W. R. Silveira ◽  
R. Lindsay

A case of childhood affective disorder with episodes of depressive stupor in a 13-year-old pre-pubertal boy is described. Changes in the patient's clinical state were accompanied by changes in the dexamethasone suppression test. A family history of affective illness on the maternal side, with phenomenological similarities, is noted.


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