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Case Reports: Findings that shed new light on the possible pathogenesis of a disease
Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome
  1. Michael Lane1,
  2. Nicholas M Allen2,3 and
  3. Johannes Letshwiti2
  1. 1Paediatrics, National University of Ireland, Galway, Ireland
  2. 2Paediatrics, Galway University Hospitals, Galway, Ireland
  3. 3Paediatrics, University of Galway, Galway, Ireland
  1. Correspondence to Dr Johannes Letshwiti; jletshwiti{at}yahoo.co.uk

Abstract

TARP (talipes equinovarus, atrial septal defect (ASD), Robin sequence, persistent left superior vena cava) syndrome is a rare X-linked disorder affecting the RBM10 gene. It was previously viewed as universally fatal in the early neonatal period, however, recent cases have shown patients surviving beyond this stage. We present a male toddler diagnosed with TARP syndrome due to a a previously unreported splicing mutation c.2295+1G>A in the RBM10 gene. At birth, he had an ASD and Robin sequence, two of the eponymous features, as well as other associated phenotypic features. During infancy, he had an extremely high alpha-fetoprotein, conjugated hyperbilirubinaemia and thrombocytopaenia, features not previously described in TARP syndrome. We discuss these findings as well as our patient’s survival past the neonatal period with special consideration to recent genotype–phenotypes correlations.

  • Neonatal intensive care
  • Parenteral / enteral feeding
  • Bilirubin disorders
  • Genetics
  • Developmental paediatrocs

https://doi.org/10.1136/bcr-2022-253035

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    Footnotes

    • Contributors ML wrote the manuscript. NA reviewed and edited the manuscript. JL identified the case, obtained consent, cowrote the manuscript and edited the article.

    • 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.