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Neuroimaging features in Wolfram syndrome type 1

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Abstract

Wolfram syndrome type 1 is a rare autosomal recessive genetic disorder which is characterized by the co-existence of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, and hence is also referred to as the acronym DIDMOAD. In this neuroimage, the typical neuroimaging features of a genetically confirmed case of Wolfram syndrome type 1 are presented. The presence of left-sided vestibulocochlear dysplasia is a novel finding in our case which has not been reported previously.

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References

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Authors and Affiliations

  1. Department of Radiodiagnosis, All India Institute of Medical Sciences, Bathinda, Punjab, 151001, India

    Sameer Peer

  2. Department of Pediatrics, All India Institute of Medical Sciences, Bilaspur, Himachal Pradesh, 174001, India

    Naveen Kumar Bhardwaj

  3. Department of Pediatrics, All India Institute of Medical Sciences, Bathinda, Punjab, 151001, India

    Arvinder Wander

Authors
  1. Sameer Peer
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  2. Naveen Kumar Bhardwaj
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  3. Arvinder Wander
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Correspondence to Sameer Peer.

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The institutional ethical review board granted a waiver for ethical clearance for this report as no ethical issues were found. An informed and written consent from the next of kin of the patient was taken for the publication of this report.

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The authors affirm that informed and written consent was taken from the next of kin of the patient for all the diagnostic tests and publication of data.

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The authors declare no competing interests.

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Peer, ., Bhardwaj, N.K. & Wander, A. Neuroimaging features in Wolfram syndrome type 1. Neurol Sci 45, 2943–2944 (2024). https://doi.org/10.1007/s10072-024-07352-8

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  • DOI: https://doi.org/10.1007/s10072-024-07352-8

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