Severe Low Back Pain as the Presenting Feature of Alkaptonuria in A Young Female
Keywords:
Low Back Pain, Urine Examination, Homogentisic Acid, Oochronosis, Alkaptonuria
Abstract
Alkaptonuria is a rare inborn error of metabolism, caused due to the deficiency of the enzyme homogentisic acid oxidase. The manifestations of this disease are initially non specific, hence the condition is often under diagnosed as the patients present at later stages with associated complications. Although the treatment of alkaptonuria is mainly supportive, the diagnosis and reporting of this rare condition is necessary as it avoids subjecting the patients to unnecessary investigations and interventions. We report a case of a thirty five year old lady, who presented with severe low back pain.Xray showed features of disc prolapse. On table intraoperative findings showed blackish discolored disc material during discectomy. After doing simple ancillary tests, and correlating with other clinical features, the lady was diagnosed as a case of Alkaptonuria.We report this case as not only is the metabolic condition rare, but also to highlight the importance of simple urinary tests which are of great help in diagnosing such conditions,even in this era of automation considering the cost effectiveness in rural population like ours. DOI: 10.21276/APALM.1323References
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5.Singh O, Muthukrishna Pandian R, Sudhakar Kekre N Alkaptonuric Ochronosis. Urology. 2017 Feb;100 :e3-e4
6.Gil JA, Wawrzynski J, Waryasz GR Orthopedic Manifestations of Ochronosis: Pathophysiology, Presentation, Diagnosis, and Management. Am J Med. 2016 May;129(5):536.e1-6
7.Craide FH, Fonseca JSBM, Mariano PC, Fernandez NM, Castro CGC, Mene YSL. Alkaptonuria – Case report. An Bras Dermatol. 2014;89(5):799-801
8.Li N, Tian W, Yuan Q, He D. Cervical Spondylotic Myelopathy due to the Ochronotic Arthropathy of the Cervical Spine. Journal of Korean Neurosurgical Society. 2016;59(1):65-68.
9.Rathore FA, Ayaz SB, Mansoor SN. Ochronotic Arthropathy: Two Case Reports from a Developing Country. Clinical Medicine Insights Arthritis and Musculoskeletal Disorders. 2016;9:15-20.
10.Vallonthaiel AG, Kakkar A, Singh MK1, Ramam M. Ochronosis with subtle histological findings Indian J Dermatol Venereol Leprol. 2015 Nov-Dec;81(6):623-4
11.Alajoulin OA, Alsbou MS, Ja’afreh SO, Kalbouneh HM. Spontaneous Achilles tendon rupture in alkaptonuria. Saudi Medical Journal. 2015;36(12):1486-1489.
12.Panjwani PK, Kini U, Choubey SK, Mohan A. Coexistence of Alkaptonuric Ochronosis and renal cell carcinoma: An unusual association and report of a case. Indian J Pathol Microbiol 2015;58:255-6
13.Millucci L, Spreafico A, Tinti L, et al. Alkaptonuria is a novel human secondary amyloidogenic disease. Biochimica et Biophysica Acta. 2012;1822(11):1682-1691.
2.Wilke A, Steverding D. Ochronosis as an unusual cause of valvular defect: a case report. Journal of Medical Case Reports. 2009;3:9302.
3.Babanagare SV, Deshmukh SD, Khadilkar MS, Patil AA. Ochronosis: A report of three cases and review of the literature. Indian J Pathol Microbiol 2011;54:626-8.
4.Sachdeva J R, Gupta M M, Jindal V K. Alkaptonuria (a case report). J Postgrad Med 1986;32:166-7,170A.
5.Singh O, Muthukrishna Pandian R, Sudhakar Kekre N Alkaptonuric Ochronosis. Urology. 2017 Feb;100 :e3-e4
6.Gil JA, Wawrzynski J, Waryasz GR Orthopedic Manifestations of Ochronosis: Pathophysiology, Presentation, Diagnosis, and Management. Am J Med. 2016 May;129(5):536.e1-6
7.Craide FH, Fonseca JSBM, Mariano PC, Fernandez NM, Castro CGC, Mene YSL. Alkaptonuria – Case report. An Bras Dermatol. 2014;89(5):799-801
8.Li N, Tian W, Yuan Q, He D. Cervical Spondylotic Myelopathy due to the Ochronotic Arthropathy of the Cervical Spine. Journal of Korean Neurosurgical Society. 2016;59(1):65-68.
9.Rathore FA, Ayaz SB, Mansoor SN. Ochronotic Arthropathy: Two Case Reports from a Developing Country. Clinical Medicine Insights Arthritis and Musculoskeletal Disorders. 2016;9:15-20.
10.Vallonthaiel AG, Kakkar A, Singh MK1, Ramam M. Ochronosis with subtle histological findings Indian J Dermatol Venereol Leprol. 2015 Nov-Dec;81(6):623-4
11.Alajoulin OA, Alsbou MS, Ja’afreh SO, Kalbouneh HM. Spontaneous Achilles tendon rupture in alkaptonuria. Saudi Medical Journal. 2015;36(12):1486-1489.
12.Panjwani PK, Kini U, Choubey SK, Mohan A. Coexistence of Alkaptonuric Ochronosis and renal cell carcinoma: An unusual association and report of a case. Indian J Pathol Microbiol 2015;58:255-6
13.Millucci L, Spreafico A, Tinti L, et al. Alkaptonuria is a novel human secondary amyloidogenic disease. Biochimica et Biophysica Acta. 2012;1822(11):1682-1691.
Published
2017-10-19
Issue
Section
Case Report
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