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BMJ Case Reports 2018; doi:10.1136/bcr-2017-223715
  • Unusual presentation of more common disease/injury
  • CASE REPORT

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

  1. Venkat Kallem4
  1. 1Neonatology, Ma x Hospital, New Delhi, India
  2. 2Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  3. 3Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Andhra Pradesh, India
  4. 4Neonatology, Fernandez Hospital Hyderabad, Telangana, India
  1. Correspondence to Dr Aakash Pandita, aakash.pandita{at}gmail.com
  • Accepted 20 July 2018
  • Published 9 August 2018

Summary

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.

Footnotes

  • Contributors VG, APang, VK: wrote the initial manuscript. APand: critically reviewed the manuscript and did the final corrections. All authors accepted the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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