2 YEAR OLD BOY DIAGNOSED WITH RARE GENETIC DISORDER TREATED SUCCESSFULLY AT GLENEAGLES GLOBAL HEALTH CITY
Chennai, November 22nd 2019: Gleneagles Global Health City, the largest facility of Gleneagles Global Hospitals, successfully treated a 2 year old boy from Chennai who was diagnosed with the Wolcott-Rallison Syndrome (WRS) a very rare genetic condition characterized by neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and recurrent episodes of acute liver failure.
Wolcott-Rallison syndrome (WRS) is now recognised as the most frequent cause of neonatal/early-onset diabetes in patients with consanguineous parents. Typically, diabetes occurs before six months of age, and skeletal dysplasia is diagnosed within the first year or two of life. WRS typically present in the first few months of life with diabetes and the frequency of liver disease has been reported to be 60%-85%.
The baby was born early at 34 weeks of gestation to consanguineous parents. He became symptomatic at 2months of age with fever, vomiting, diarrhoea. The boy was brought to Gleneagles Global Health City at one and a half years with similar episode. On evaluation, Doctors found that the child had jaundice and dry coated tongue. Initial investigations revealed that the boy had Diabetic Ketoacidosis.
Based on the clinical features and laboratory investigations, a clinical diagnosis of diabetic ketoacidosis, acute liver failure with acute kidney injury was made. Initial management included intravenous fluids, insulin, infusion intravenous antibiotics. In the view of multiorgan dysfunction and history of consanguinity, doctors decided to perform genetic analysis, which showed EIF2AK3 mutation which is pathognomic of Wolcott – Rallison Syndrome.
WRS is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3), also known as PKR-like endoplasmic reticulum kinase (PERK). PERK is an endoplasmic reticulum (ER) transmembrane protein, which plays a key role in translation control during the unfolded protein response. ER dysfunction is central to the disease processes, Said DrJoy Varghese – Director: Department of Hepatology& Liver transplantation, Institute of Liver Diseases & Transplantation, Gleneagles Global Health City. In this particular case, the boy was managed conservatively and he gradually improved with treatment. He was later discharged in clinically stable condition, added Dr PerumalKarnan, Senior Consultant – Clinical Lead Paediatric, Gleneagels Global Health City.
Early diagnosis is essential for Wolcott – Rallison syndrome to ensure rapid intervention for episodes of hepatic failure, which is the most life-threatening complication. WRS should be differentiated from other forms of early-onset insulin-dependent diabetes based on clinical presentation and genetic testing added Dr PerumalKarnan.