BMJ Case Reports 2017; doi:10.1136/bcr-2016-217464
  • Rare disease

Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE

  1. Bibian N Ofoegbu
  1. NICU, Al Corniche Hospital, Abu Dhabi, United Arab Emirates
  1. Correspondence to Dr Solange Bou Chaaya, Sous75{at}
  • Accepted 20 June 2017
  • Published 16 July 2017


We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The determination of the molecular basis of syndromic CSD will facilitate prenatal and postnatal diagnosis of patients and will contribute to counselling of affected families, especially in areas like the UAE where consanguineous marriages are not uncommon.


  • Contributors SBC initially saw the baby and did the literature review, got the consent from parents, wrote the case and obtained the photos. JDE and BNO were involved in the care of the baby, they reviewed the case and finally approved it for submission.

  • Competing interests None declared.

  • Patient consent Obtained from guardian.

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

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