Wolcott-Rallison syndrome, A rare paediatric case report
Received: 14 Jan 2026 / Published: 25 Jul 2024
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.
Keywords: Child,Diabetes Mellitus,Syndrome,Wolcott-Rallison syndrome,WRS,skeletal dysplasia
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CITE
Khurshied, S.; Khurshid, N.; Khurshid, M.; Khizer, M.A.; Ahmed, H.; Khushdil, A. Wolcott-Rallison syndrome, A rare paediatric case report. Int J Front Sci 2024, 7, 1.
Khurshied S, Khurshid N, Khurshid M, Khizer MA, Ahmed H, Khushdil A. Wolcott-Rallison syndrome, A rare paediatric case report. Int J Front Sci. 2024; 7(1):1.
Khurshied, Saleh; Khurshid, Nawal; Khurshid, Madiha; Khizer, Muhammad Azeem; Ahmed, Hammad; Khushdil, Arshad. 2024. "Wolcott-Rallison syndrome, A rare paediatric case report." Int J Front Sci 7, no. 1: 1.
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