Atypical presentations of Wolframs syndrome
S Saran1, R Philip, Pp Patidar
1Department of Endocrinology and Metabolism, LLRM Medical College, Meerut, Uttar Pradesh, India.
Indian Journal of Endocrinology and Metabolism
|April 9, 2013
Summary
Wolfram syndrome (DIDMOAD) presents with diverse symptoms beyond classic diabetes and vision loss. This study highlights less common neurobehavioral and endocrine issues, emphasizing the syndrome's varied manifestations.
Area of Science:
- Neuroscience
- Endocrinology
- Genetics
Background:
- Wolfram syndrome, also known as DIDMOAD, is a rare neurodegenerative disorder.
- Classic symptoms include diabetes, optic atrophy, central diabetes insipidus, and deafness.
- Atypical presentations are less understood but crucial for diagnosis.
Purpose of the Study:
- To present three cases of Wolfram syndrome with atypical manifestations.
- To broaden the understanding of the syndrome's diverse clinical spectrum.
- To emphasize the importance of recognizing less common symptoms.
Main Methods:
- Case study analysis of three patients with Wolfram syndrome.
- Detailed clinical evaluation of presenting symptoms and medical history.
- Review of literature on Wolfram syndrome and its genetic basis.
Main Results:
- Case 1: A 15-year-old boy presented with depression and suicidal tendencies.
- Case 2: A 17-year-old boy showed delayed puberty due to hypogonadism.
- Case 3: A 23-year-old female experienced sudden vision loss with vitreous hemorrhage.
Conclusions:
- Wolfram syndrome exhibits varied manifestations beyond the typical diabetes and optic atrophy.
- Neuropsychiatric symptoms like depression and endocrine dysfunctions such as hypogonadism are significant.
- Recognizing these atypical presentations is vital for comprehensive patient care and management.
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