J Yeungnam Med Sci.  2023 Oct;40(4):419-422. 10.12701/jyms.2022.00493.

Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report

• Ham JA
• Kim SH
• Park D

• KMID: 2547366
• DOI: http://doi.org/10.12701/jyms.2022.00493

Abstract

Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.

Keyword

15q13.3 duplication; Chromosome microarray analysis; Septo-optic dysplasia

Figure

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  Fig. 1. (A) Axial T2-weighted fluid-attenuated inversion recovery (FLAIR) image shows closed-lip schizencephaly in left frontoparietal lobe (arrow). (B) Axial T2-weighted FLAIR image shows abscence of the septum pellucidum (arrow). (C) Axial T2-weighted turbo spin echo shows hypoplasia of both optic nerves (arrows). (D) Sagittal T1-weighted FLAIR image shows partial thinning of genu of corpus callosum (arrowhead) and hypoplasia of the pituitary stalk and pituitary gland (arrow).

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  Fig. 2. Chromosome microarray analysis detects duplication of a 432 kb on the chromosome 15q13.3 region.

Reference

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