Article Text

Unusual presentation of more common disease/injury
Congenital cataract and congenital chloride diarrhoea—a unique combination and antenatal diagnosis
  1. Abdul Majid Wani1,
  2. Noor Janhan1,
  3. Waleed Mohd Hussain1,
  4. Mohamad Ibrahim Fatani1,
  5. Mohannad Hemdi1,
  6. Ahmed Imam2,
  7. Amer Mohd Khoujah3,
  8. Mubeena Akhtar1,
  9. Firdous Shiekh4
  1. 1
    Hera General Hospital, Medicine, 4a/201, Hera General, Hospital, MAKKAH, Western, 21955, Saudi Arabia
  2. 2
    Omul Qurah University, Omul Qurah University, MAKKAH, 21955, Saudi Arabia
  3. 3
    Natinal Guard Hospital, Medicine, National Guard Hospital, Jeddha, Western, 21955, Saudi Arabia
  4. 4
    Hera General Hospital, Hera General Hospital, Makkah, 21955, Saudi Arabia
  1. Abdul Majid Wani, dr_wani_majid{at}


Congenital chloride diarrhoea (CCD) is a serious inherited defect of intestinal electrolyte absorption transmitted in an autosomal recessive way. The molecular pathology involves an epithelial Cl(-)/HCO(3)(-) exchanger protein, encoded by the solute carrier family 26 member 3 gene (SLC26A3) and known DRA (down regulated in adenomas) in the distal ileum and colon. Polyhydramnios, premature birth, ileus without meconium passage, hypochloremia, and hyponatremia are typical features of CCD in the neonate followed by chronic metabolic alkalosis, hypokalemia, hypochloremia, retarded growth and renal impairment in older children and adults if the disease is not adequately treated. Antenatal diagnosis if made on the basis of findings on ultrasonography—a non-invasive diagnostic test—can help in early management of the disorder immediately after birth and, thus, prevent the sequelae. We present an interesting case of CCD diagnosed antenatally and found to have congenital cataract, which is a unique occurrence not reported in literature so far.

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  • Competing interests: none.

  • Patient consent: Patient/guardian consent was obtained for publication.