Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

01 July 2005 : Original article  

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

Lea Paola Fabbri, Maria Nucera, Antonello Grippo, Adriana Menicucci, Maria Laura De Feo, Chiara Becchi, Mohamed Al Malyan

Med Sci Monit 2005; 11(7): CS40-44 :: ID: 16851

Abstract

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.

Keywords: Wolfram Syndrome - complications, Wolfram Syndrome - diagnosis, Wolfram Syndrome - genetics, Pneumonia - etiology, Respiratory Insufficiency - etiology, Wolfram Syndrome - genetics

Add Comment 0 Comments

661 7

Editorial

01 December 2023 : Editorial  

Editorial: Outbreaks of Post-Pandemic Childhood Pneumonia and the Re-Emergence of Endemic Respiratory Infections

Dinah V. Parums
Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.943312

Med Sci Monit 2023; 29:e943312

In Press

01 Dec 2023 : Clinical Research  

Risk Factors and Clinical Outcomes of COVID-19 Infection in Multiple Sclerosis Patients: A Retrospective St...

Med Sci Monit In Press; DOI:  

30 Nov 2023 : Review article  

Decoding the Neurological Sequelae of General Anesthesia: A Review

Med Sci Monit In Press; DOI:  

30 Nov 2023 : Clinical Research  

Enhanced Pain Relief and Muscle Growth in Individuals with Low Back Instability: The Impact of Blood Flow R...

Med Sci Monit In Press; DOI:  

29 Nov 2023 : Clinical Research  

Comparative Analysis of Intramedullary Nail versus Plate Fixation for Fibula Fracture in Supination Externa...

Med Sci Monit In Press; DOI:  

Most Viewed Current Articles

13 Nov 2021 : Clinical Research  

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

DOI :10.12659/MSM.932788

Med Sci Monit 2021; 27:e932788

0:00

30 Dec 2021 : Clinical Research  

Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...

DOI :10.12659/MSM.935379

Med Sci Monit 2021; 27:e935379

0:00

14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990

0:00

08 Mar 2022 : Review article  

A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...

DOI :10.12659/MSM.936292

Med Sci Monit 2022; 28:e936292

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750