Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by neonatal or early infancy onset insulin-dependent diabetes and epiphyseal dysplasia. Other frequent multisystem manifestations include recurrent hepatitis, renal dysfunction, failure to thrive, developmental delay, neutropenia, and hypothyroidism. Herein, we reported two siblings with WRS.
Case 1: A 14-month-old male infant was brought to the hospital for feeding difficulty and vomiting and was diagnosed as diabetic ketoacidosis. He developed liver and renal failure after admission and was managed appropriately. Later on, physical examination showed growth failure and skeletal abnormalities, as well as dysmorphic features. Because of accompanying diabetes and skeletal abnormalities, WRS was suspected and the diagnosis was confirmed by genetic analysis which revealed a homozygous partial gene deletion, c.1886 (c.2817+1_c.2818-1)del on the EIF2AK3 gene. The patient’s parents were both heterozygous for this mutation and are therefore carriers of WRS.
Case 2: The three-month-old sister of the first case was diagnosed as diabetes. Because of her family history, the diagnosis was confirmed with genetic testing which revealed the same partial gene deletion as in her brother.
Hepatic and renal dysfunctions are typical features of this syndrome. Our first patient presented with typical symptoms and signs of WRS. Although case 2 does not have the typical signs of the syndrome, it may develop later. Children with WRS usually present in the first few months of life with diabetes, and it is recommended that any child presenting with diabetes within the first 2 years of life should be tested for EIF2AK3 mutations.