Severe Low Back Pain as the Presenting Feature of Alkaptonuria in A Young Female

Authors

  • Archana Shetty Sapthagiri Institute Of Medical Sciences and research Center,Bangalore
  • Padma Priya Kasukurti Sapthagiri Institute Of Medical Sciences & Research Center, Bangalore
  • Hariprakash V Sapthagiri Institute Of Medical Sciences & Research Center, Bangalore
  • Vijaya C Sapthagiri Institute Of Medical Sciences & Research Center, Bangalore

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.1323

Author Biographies

Archana Shetty, Sapthagiri Institute Of Medical Sciences and research Center,Bangalore

Department Of Pathology,

ASSOCIATE PROFESSOR

Padma Priya Kasukurti, Sapthagiri Institute Of Medical Sciences & Research Center, Bangalore

Assistant Professor, Pathology

Hariprakash V, Sapthagiri Institute Of Medical Sciences & Research Center, Bangalore

Associate Professor Neurosurgey

Vijaya C, Sapthagiri Institute Of Medical Sciences & Research Center, Bangalore

Professor & Head, Pathology

References

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Published

19-10-2017

How to Cite

1.
Shetty A, Kasukurti PP, V H, C V. Severe Low Back Pain as the Presenting Feature of Alkaptonuria in A Young Female. Ann of Pathol and Lab Med [Internet]. 2017 Oct. 19 [cited 2024 Nov. 19];4(5):C141-144. Available from: https://pacificejournals.com/journal/index.php/apalm/article/view/apalm1323

Issue

Vol. 4 No. 5 (2017)

Section

Case Report

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Copyright (c) 2017 Archana Shetty, Padma Priya Kasukurti, Hariprakash V, Vijaya C

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