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Sotos syndrome with septo-optic dysplasia
A Büyükgebiz1, D Erçal, E Böber
1Department of Pediatrics Endocrinology, University of Dokuz Eylül, Faculty of Medicine, Izmir, Turkey.
Insights
This study reports the first known case of Sotos syndrome co-occurring with septo-optic dysplasia (SOD) in a young boy experiencing rapid growth. The rare combination presented with cerebral gigantism, challenging typical growth expectations for SOD.
Area of Science:
- Pediatrics
- Genetics
- Neurology
Background:
- Sotos syndrome, characterized by overgrowth and developmental delays, is a rare genetic disorder.
- Septo-optic dysplasia (SOD) is a congenital condition typically associated with poor growth and visual impairment.
Observation:
- A 12-year-old boy presented with rapid growth, developmental retardation, and physical findings suggestive of Sotos syndrome.
- Imaging studies revealed septo-optic dysplasia (SOD) in addition to features of Sotos syndrome.
Findings:
- The patient exhibited cerebral gigantism, a presentation atypical for SOD, which usually involves growth failure.
- This case represents the first documented instance of the co-occurrence of Sotos syndrome and SOD in medical literature.
Implications:
- This rare co-occurrence expands the phenotypic spectrum of both Sotos syndrome and SOD.
- Highlights the importance of comprehensive evaluation in patients with rare genetic syndromes and atypical presentations.
- Suggests potential shared genetic or developmental pathways between Sotos syndrome and SOD.
Abstract:
A 12 2/12 year-old boy was admitted to our hospital with the complaint of rapid growth. His birth and postnatal growth history, developmental retardation, physical examination and skeletal radiograms suggested Sotos syndrome. CT and MRI findings revealed septo-optic dysplasia (SOD), which is usually characterized by poor growth, together with cerebral gigantism in our case. These two entities are both rare and as far as we know this is the first patient in the literature with Sotos syndrome and SOD.
