Wolfram syndrome. How much could knowledge challenge the fate? A case report.

摘要

BACKGROUND: Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. The mortality rate of WS is about 65% before 35 years of age. It presents diagnostic challenges in the clinical practice due to its incomplete characterization. This report represents the first case of undiagnosed Wolfram syndrome in a patient over 53 years old. CASE REPORT: A 53-year-old white woman developed a respiratory complication necessitating extended ICU care and respiratory rehabilitation. This respiratory complication proved to be a consequence of undiagnosed WS. CONCLUSIONS: The report discusses the clinical elements that suggested the diagnosis, the problems related to the ICU management of this patient, in particular the weaning difficulties, and the need for rehabilitation. Finally, the report considers the ethical aspect of timely diagnosis on the course and outcome of WS.