P-402: Patient with monogenic diabetes, a case report from Pakistan
M Gul Khan, M Abid, M Noor Ibrahim, V Rani Rai, M RazaAbstract
Introduction
Wolcott–Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset insulin-dependent diabetes mellitus mostly presenting before 6 month of age, skeletal dysplasias, and multisystem involvement, underlying mutation is in in the EIF2AK3 gene that is ER stress gene. It is the most common form of monogenic diabetes in population where consanguinous marriages are common
Objectives
Early recognition and genetic confirmation are crucial for diagnosis, appropriate management, prognosis, and family counselling
Methods
We report a case of 2-year-old boy who presented with fever, cough, and respiratory distress in our hospital. He had a significant past history of recurrent hospital admissions for fever and was diagnosed with insulin-dependent diabetes mellitus and hypothyroidism at 11 month of age. on every admission it was being noticed that there is always raised level of hepatic enzymes.he was not worked up before the case of diabetes. On examination, he was underweight and stunted with hepatomegaly and respiratory findings suggestive of severe pneumonia. Laboratory investigations revealed mild anemia, high TLC with normal ABGs and no evidence of DKA, while SGPT, Gama GT was raised. Skeletal survey revealed metaphyseal radiopaque bands, delayed bone age, and generalized osteopenia. Given the constellation of early-onset diabetes with negative insulin autoantibodies profile, hypothyroidism, and skeletal findings, a genetic disorder was suspected. Genetic testing confirmed a homozygous mutation in the EIF2AK3 gene, establishing the diagnosis of Wolcott–Rallison syndrome.
Results
The patient was managed with insulin therapy, thyroid hormone replacement, antibiotics for pneumonia, and supportive care. Genetic counselling was advised, and long-term multidisciplinary follow-up was planned.
Conclusions
This case highlights the importance of considering genetic analysis in patient with negative insulin antibodies, so that timely diagnosis of disease entity will result in better outcomes.