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Case Report

LNS: Brick Red Sand Urine Disease

Dhiraj J. Trivedi , Dhiraj J. Trived

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Indian Journal of Pathology: Research and Practice 5(1):p 55-57, Jan-Apr 2016. | DOI: DOI : https://dx.doi.org/10.21088/ijprp.2278.148X.5116.9

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Abstract

 Lesch-Nyhan syndrome (LNS) is a rare, X-chromosome linked, genetically inherited disorder, present from the birth, but generally manifests itself in the first three to six months of life. The very first symptom, if observed carefully, is orange-coloured deposits of uric acid associated with blood in the diaper.  Eight day old male child presented with respiratory distress and progressive loss of pain sensation.  Radiological and hematological investigations were normal. Biochemically high urinary uric acid to creatinine ratio and uric acid crystals in urine helped diagnosis at an early day.    

Keywords: LNS; Red Sand Urine; Uric Acid.


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DOI: DOI : https://dx.doi.org/10.21088/ijprp.2278.148X.5116.9

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