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Case Reports: Rare disease
Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems
  1. Aamina Saad,
  2. Avantika Chauhan,
  3. Shalini Tripathi and
  4. Mala Kumar
  1. Department of Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India
  1. Correspondence to Dr Avantika Chauhan; avantikachauhan2{at}gmail.com

Abstract

A male infant born out of non-consanguineous marriage to a primigravida presented to us as his third hospitalisation with ichthyotic lesions all over the body, cholestatic jaundice, multiple joint contractures and a history of recurrent sepsis. Blood and urine investigations revealed Fanconi syndrome, hypothyroidism and direct hyperbilirubinaemia with elevated liver enzymes and normal gamma glutamyl transpeptidase levels. The combination of arthrogryposis, renal dysfunction and cholestasis led to the suspicion of arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome, which was then proved by genetic testing. The baby was managed conservatively with respiratory support, antibiotics, multivitamins, levothyroxine and other supportive measures but succumbed to the illness on day 15 of hospitalisation. Genetic analysis using next-generation sequencing was confirmatory of a homozygous mutation in VIPAS39 gene leading to ARC syndrome type 2 in the present case. Genetic counselling was provided and prenatal testing was advised to the parents for future pregnancies.

  • Congenital disorders
  • Neonatal health

https://doi.org/10.1136/bcr-2023-254822

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content—AS and AC. The following authors gave final approval of the manuscript—ST and MK.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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