A CASE REPORT ON WOLCOTT RALLISON SYNDROME

Abstract

A Case Report of Wolcott–Rallison syndrome, it is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients have most common history of consanguineous marriage. Patients with WRS have mutations in the EIF2AK3 gene, which encodes the eukaryotic translation initiation factor 2-alpha kinase 3. Most common cause of death is fulminant hepatitis in early childhood.The EIKF2AK3 gene codes for PERK (pancreatic endoplasmic reticulum kinase),an explanation for the spectrum of symptoms.PERK is associated with the activity of beta cells in the pancreas.A broad range of bodily systems is affected, including pancreas, kidney, liver,bone, and nervous system, because of deficient stress response to improperly folded proteins inside the endoplasmic reticulum. A two months old male child born out of non-consanguineous marriage, Hindu by religion, presented with complain of fever since 4 days, respiratory distress since 12 hours. Patient was admitted and on regular blood sugar screening on arrival was high. Repeat random blood sugar was also elevated.Arterial blood gas was done which was suggested metabolic acidosis.Due to persistent high blood sugar,insulin drip was started and HbA1c was done which was 11 gm% and other investigations done. Diagnosis of neonatal diabetes mellitus was kept and managed accordingly. Studies for other endocrinopathies and autoimmune disease done which was negative. Child was having normal growth and development according to age. Genetic studies for neonatal diabetes was planned and EIKF2AK3 gene mutation was found homozygous. Both the parents were heterozygous for the mutation. So diagnosis was kept and regular follow up was advised.Key-words:Infant,Neonatal Diabetes,Endocrinopathy