TY  - EJOU
AU  - Khurshied, K. Saleh
AU  - Khurshid, K. Nawal
AU  - Khurshid, K. Madiha
AU  - Khizer, K. Muhammad Azeem
AU  - Ahmed, A. Hammad
AU  - Khushdil, K. Arshad
TI  - Wolcott-Rallison syndrome, A rare paediatric case report
T2  - The International Journal of Frontier Sciences

PY  - 2024
VL  - 7
IS  - 1
SN  - 2618-0367

AB  - 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.
KW  - Child,Diabetes Mellitus,Syndrome,Wolcott-Rallison syndrome,WRS,skeletal dysplasia
DO  - 10.37978/tijfs.v7i1.397