Congenital chloride losing diarrhoea

Congenital chloride diarrhoea (CLD) is an autosomal recessive disease, reported mainly in Finland.The infrequency with which it is encountered makes its diagnosis a challenge. Furthermore,due to un-availability of stool electrolyte test in Pakistan, diagnosis of CLD is most often missed or misdiagnosed. The case of a 16-month-old male child is described who was treated as Bartter Syndrome since the age of 9 months, later diagnosed to have CLD with the support of history and some routine laboratory work.