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MRI in the diagnosis of Wolfram syndrome – a review about three cases

Mariana C. Diogo1, Carla Conceição1, Catarina Perry Câmara1

1- Neuroradiology Department, Hospital Dona Estefânia, CHLC, Lisbon, Portugal

ESMNR 2015, 13-16 May 2015, Porto, Portugal         

Introduction: Wolfram syndrome (WFS) is a neurodegenerative genetic disorder, also known by the acronym DIDMOAD, describing its main features: diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy, and deafness. Although genetic studies offer the definite diagnosis, magnetic resonance imaging (MRI) plays a preponderant role in showing an array of suggestive findings.
Methods: We reviewed 3 cases of genetically confirmed WFS, imaged and diagnosed in our center, in which MRI played a preponderant role in the diagnosis. Major findings in this syndrome are discussed, with special focus on the imaging aspects.
Results: Three cases of WFS in non-related adolescent girls are described. A summary of each clinical presentation, as well as imaging findings, are presented. Age of first symptoms’ onset varied from 18 months to 11 years of age, with several years until diagnosis. MRI findings included: absence of the neurohypophysis physiological signal, thinning of the optic nerves and chiasm, and atrophy and signal anomalies of the cerebral cortex, brainstem, and cerebellum.
Using these 3 cases as a starting point we review the classic and atypical imaging findings and their correlation with the clinical presentation in WFS.
Conclusion/Discussion: Diagnosis of WFS is not always straightforward, as symptoms can develop over a long period of time and concern different medical specialties. Neuroradiolgists should be aware of findings typical of WFS and suggest the possibility of this diagnosis in the association of loss of neurohypophysis high signal and optic atrophy in patients performing MRI for deafness or visual alterations.