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

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.

The Impact of Cortical Cerebral Microinfarcts on Functional Outcomes in Patients With Ischemic Stroke.

The present study examined cortical cerebral microinfarcts (CMIs) on a 3T magnetic resonance imaging and investigated the impact of CMIs on the comprehensive functional outcomes during the post-stroke rehabilitation period. Patients with acute phase of first-ever ischemic stroke were retrospectively recruited (n = 62) and divided into 2 groups with and without CMIs. Clinical parameters including age, sex, stroke lesion laterality, location, the National Institutes of Health Stroke Scale score, as well as history of hypertension, dyslipidemia, diabetes mellitus, and smoking were obtained. Functional outcomes were assessed twice at baseline and one month later with the Korean version of the Mini-Mental State Examination, the Berg balance scale (BBS), and the functional independence measure. Partial correlation and multiple linear regression analyses were used to examine the relationship between the presence of CMIs and the change in functional outcomes. At least one CMI was reported in 27 patients, who were older (p = 0.043). The presence of CMIs was significantly associated with functional impairment in all 3 functional outcomes, after controlling for confounding factors (p < 0.05). CMIs might contribute to poor functional outcomes during the post-stroke rehabilitation period. These results suggest that CMIs should be considered when establishing rehabilitation treatment strategies or making a prognosis.