Wolcott-Rallison syndrome, A rare paediatric case report
Wolcott-Rallison syndrome
DOI:
https://doi.org/10.37978/tijfs.v7i1.397Keywords:
Child, Diabetes mellitus, Syndrome, Wolcott-Rallison syndrome, WRS, skeletal dysplasia, EIF2AK3 mutationsAbstract
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.
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