%0 Journal Article
%A Khurshied, Saleh Khurshied
%A Khurshid, Nawal Khurshid
%A Khurshid, Madiha Khurshid
%A Khizer, Muhammad Azeem Khizer
%A Ahmed, Hammad Ahmed
%A Khushdil, Arshad Khushdil
%D 2024
%J The International Journal of Frontier Sciences

%@ 2618-0367

%V 7
%N 1
%P 1

%T Wolcott-Rallison syndrome, A rare paediatric case report
%M doi:10.37978/tijfs.v7i1.397
%U https://tijfs.jams.pub/article/7/1/109
%X Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive, neonatal or infancy onset disease that is non-autoimmune insulin-dependent diabetes and is associated with skeletal dysplasia and liver failure. It results in the death of the patient, mainly due to multi-organ failure. Less than 60 cases have been described in the literature so far. Here, we present a very rare case of WRS, which was diagnosed by genetic testing for EIF2AK3 mutations with typical findings of the disease, except skeletal dysplasia, which eventually died due to multi-organ failure. To the best of our knowledge, this is the first case report of WRS in Pakistan.