A 26-year-old female with Wolfram-associated Syndrome: A case report / [author]: Sicat, Arline

Includes bibliographical references

ABSTRACT: Wolfram syndrome is a very rare autosomal recessive disease characterized by constellation symptoms progressing from childhood to adulthood. These symptoms brought forth its other name DIDMOAD which comprises Diabetes insipidus, Diabetes mellitus, Optic Atrophy and Deafness. In this report, we describe a young woman diagnosed with Type 1 diabetes and optic atrophy who consulted due to severe headache, fever, urinary frequency and urgency. During the course of her admission, she had symptoms of persistent thirst, polyuria and nocturia. Further workup confirmed that she had urological abnormalities and Diabetes insipidus leading to a diagnosis of Wolfram-associated Syndrome. As healthcare providers, a high suspicion for Wolfram Syndrome should be a standard in patients who present with juvenile onset diabetes mellitus and optic atrophy which are the primary symptoms of Wolfram Syndrome. Early recognition and diagnosis will guide us to the proper management and help improve the patient and their family's quality of life. Objectives: 1. To present a case of a 26-year-old female who is a case of Wolfram associated Syndrome 2. To discuss the approach to diagnosis and management of patients with Wolfram Syndrome

Research - Department of Medicine