ESPE Abstracts (2016) 86 P-P2-268

A Patient with a Rare Monogenic Diabetes Syndrome

Vimal Mavila Veetil, Divya Pachat, Sudha Krishnanunni, M C Naseerali & P Abdul Majeed


Malabar Institute of Medical Sciences, Kozhikode, Kerala, India


Aim: To delineate the diagnosis in a case of antibody negative infantile onset diabetes with deranged liver function.

Case Report: A female child, first born of consanguineous couple presented with Diabeteic Keto Acidosis and acute liver failure at 9 months of age. She has been treated as a case of Type I diabetes and was discharged on insulin. Child was further evaluated at our center at 11 months of age. On examination, she had a normal anthropometry and few dysmorphic features namely depressed nasal bridge, tented upperlip, tapering fingers and clinodactyly. Her glycemic indices were high, liver enzymes remained elevated, had mild hepatomegaly and repeated anti GAD antibody were negative ruling out auto immune diabetes. Infective and metabolic causes of hepatitis were ruled out and she had a normal function with respect to Hypothalamo–Pituitary axis. In view of the Arab ethnicity, consanguinity, dysmorphic features and presentation of antibody negative infantile diabetes with hepatic involvement, a possibility of Wolcott-Rallison Syndrome (WRS) was considered. This was confirmed with EIF2AK3 gene analysis which revealed a homozygous mutation in exon 9 (c. 1635_1638delGAAA)

Discussion and conclusion: WRS is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and liver dysfunction. This is now recognised as the most frequent cause of PNDM in areas of high consanguinity. Because of the high clinical variability, syndrome often goes unrecognized leading to delayed diagnosis and early death. Given the high morbidity and mortality associated, early identification of the disease is crucial in clinical management and prenatal diagnosis.

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