@Article{
AUTHOR = {Khurshied, Saleh Khurshied and Khurshid, Nawal Khurshid and Khurshid, Madiha Khurshid and Khizer, Muhammad Azeem Khizer and Ahmed, Hammad Ahmed and Khushdil, Arshad Khushdil},
TITLE = {Wolcott-Rallison syndrome, A rare paediatric case report},
JOURNAL = {The International Journal of Frontier Sciences},
VOLUME = {7},
YEAR = {2024},
NUMBER = {1},
PAGES = {--},
URL = {https://tijfs.jams.pub/article/7/1/109},
ISSN = {2618-0367},
ABSTRACT = {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.},
DOI = {10.37978/tijfs.v7i1.397}
}