A Rare Case of Type 1 Diabetes Mellitus in a Patient with Seckel Syndrome: A Case Report

Abstract Seckel syndrome is a rare autosomal recessive disorder that usually presents with intrauterine growth retardation, microcephaly, a peculiar spectrum of craniofacial features, and varying degrees of intellectual disability. Type 1 diabetes mellitus (T1DM) is an autoimmune disorder caused due to pancreatic beta cell destruction, usually seen in pediatric and adolescent populations. The co-occurrence of these two distinct conditions is extremely uncommon. We present a case of a 16-year-old female with diabetic ketoacidosis, who on further workup was later diagnosed to be having T1DM based on serum C-peptide levels and subsequently found to have Seckel syndrome based on characteristic physical features and genetic testing. This case emphasizes the need of recognizing syndromic associations especially in endocrinological presentations to further explore the interplay between congenital disorders and autoimmune diseases.