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      Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney

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          Abstract

          We report a case of a term baby presenting with neonatal cholestasis and upper limb flexion deformity on day 4 of life. On further evaluation, high gamma glutamyl transpeptidase (GGT) levels and absent left kidney were found. A diagnosis of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome was made which is a rare autosomal recessive disorder with primarily clinical diagnosis. Outcome of this condition is dismal. It has a large spectrum of clinical manifestations, but association with high GGT levels and absent kidney is quite rare. No single case report has observed such an association, and this is the first case of ARC syndrome reported from India to the best of our knowledge.

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          Author and article information

          Journal
          BMJ Case Rep
          BMJ Case Rep
          casereports
          bmjcasereports
          BMJ Case Reports
          BMJ Publishing Group (BMA House, Tavistock Square, London, WC1H 9JR )
          1757-790X
          2018
          9 August 2018
          : 2018
          : bcr2017223715
          Affiliations
          [1 ] departmentNeonatology , Ma x Hospital , New Delhi, India
          [2 ] departmentNeonatology , Sanjay Gandhi Post Graduate Institute of Medical Sciences , Lucknow, Uttar Pradesh, India
          [3 ] departmentNeonatology , Sanjay Gandhi Post Graduate Institute of Medical Sciences , Lucknow, Andhra Pradesh, India
          [4 ] departmentNeonatology , Fernandez Hospital Hyderabad , Telangana, India
          Author notes
          [Correspondence to ] Dr Aakash Pandita, aakash.pandita@ 123456gmail.com
          Article
          PMC6088285 PMC6088285 6088285 bcr-2017-223715
          10.1136/bcr-2017-223715
          6088285
          30093463
          4d499221-b569-440f-8b63-b5c23072d93f
          © BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ.
          History
          : 20 July 2018
          Categories
          Unusual Presentation of More Common Disease/Injury
          1527
          Case Report

          infections,radiology (diagnostics)
          infections, radiology (diagnostics)

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