Black tendon-identifying a rare autosomal recessive disorder: Intraoperative diagnosis of alkaptonuria: A case report.

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL SAGE Open Medical Case Reports Pub Date : 2024-10-11 eCollection Date: 2024-01-01 DOI:10.1177/2050313X241283597
Parag Pushpan, Sai Harsha Sreepada, Kiran K V Acharya, Jonathan Abraham
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Abstract

Tendon injuries in the lower extremities are common in physically active individuals, although spontaneous Achilles tendon ruptures are linked to oral corticosteroid or fluoroquinolone use. Such ruptures are typically due to degenerative changes within the tendon and frequently occur during sudden dorsiflexion of a plantar-flexed foot. Bilateral spontaneous ruptures are especially prevalent in patients undergoing long-term corticosteroid therapy. Here, we present a rare case of bilateral spontaneous calcaneal avulsion in an otherwise healthy woman, ultimately diagnosed with alkaptonuria. This case underscores the importance of considering metabolic disorders in atraumatic tendon ruptures and highlights the diagnostic value of intraoperative findings.

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黑腱症是一种罕见的常染色体隐性遗传疾病:术中诊断碱蛋白尿:病例报告。
虽然自发性跟腱断裂与口服皮质类固醇或氟喹诺酮类药物有关,但下肢肌腱损伤在运动量大的人群中很常见。这种断裂通常是由于肌腱内的退行性变化造成的,经常发生在足底屈曲时突然外翻的情况下。双侧自发性断裂在长期接受皮质类固醇治疗的患者中尤为常见。在这里,我们介绍了一例罕见的双侧自发性小骨撕脱病例,患者是一名身体健康的女性,最终被诊断为踝骨尿症。该病例强调了在创伤性肌腱断裂中考虑代谢紊乱的重要性,并突出了术中发现的诊断价值。
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来源期刊
SAGE Open Medical Case Reports
SAGE Open Medical Case Reports MEDICINE, GENERAL & INTERNAL-
CiteScore
0.60
自引率
0.00%
发文量
320
审稿时长
8 weeks
期刊介绍: SAGE Open Medical Case Reports (indexed in PubMed Central) is a peer reviewed, open access journal. It aims to provide a publication home for short case reports and case series, which often do not find a place in traditional primary research journals, but provide key insights into real medical cases that are essential for physicians, and may ultimately help to improve patient outcomes. SAGE Open Medical Case Reports does not limit content due to page budgets or thematic significance. Papers are subject to rigorous peer review and are selected on the basis of whether the research is sound and deserves publication. By virtue of not restricting papers to a narrow discipline, SAGE Open Medical Case Reports facilitates the discovery of the connections between papers, whether within or between disciplines. Case reports can span the full spectrum of medicine across the health sciences in the broadest sense, including: Allergy/Immunology Anaesthesia/Pain Cardiovascular Critical Care/ Emergency Medicine Dentistry Dermatology Diabetes/Endocrinology Epidemiology/Public Health Gastroenterology/Hepatology Geriatrics/Gerontology Haematology Infectious Diseases Mental Health/Psychiatry Nephrology Neurology Nursing Obstetrics/Gynaecology Oncology Ophthalmology Orthopaedics/Rehabilitation/Occupational Therapy Otolaryngology Palliative Medicine Pathology Pharmacoeconomics/health economics Pharmacoepidemiology/Drug safety Psychopharmacology Radiology Respiratory Medicine Rheumatology/ Clinical Immunology Sports Medicine Surgery Toxicology Urology Women''s Health.
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