The Efficacy of Treatment Intensification by Quadruple Oral Therapy Compared to GLP-1RA Therapy in Poorly Controlled Type 2 Diabetes Mellitus Patients: A Real-world Data Study

We compared the glycemic efficacy of treatment intensification between quadruple oral antidiabetic drug therapy and once-weekly glucagon-like peptide-1 receptor agonist (GLP-1RA)-based triple therapy in patients with poorly controlled type 2 diabetes mellitus refractory to triple oral therapy. For 24 weeks, changes in glycosylated hemoglobin (HbA1c) from baseline were compared between the two treatment groups. Of all 96 patients, 50 patients were treated with quadruple therapy, and 46 were treated with GLP-1RA therapy. Reductions in HbA1c for 24 weeks were comparable (in both, 1.1% reduction from baseline; P=0.59). Meanwhile, lower C-peptide level was associated with a lower glucose-lowering response of GLP-1RA therapy (R=0.3, P=0.04) but not with quadruple therapy (R=–0.13, P=0.40). HbA1c reduction by GLP-1RA therapy was inferior to that by quadruple therapy in the low C-peptide subgroup (mean, –0.1% vs. –1.3%; P=0.04). Treatment intensification by switching to quadruple oral therapy showed similar glucose-lowering efficacy to weekly GLP-1RA-based triple therapy. Meanwhile, the therapeutic response was affected by C-peptide levels in the GLP-1RA therapy group but not in the quadruple therapy group.

Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

Usefulness of Goal Attainment Scaling in Intensive Stroke Rehabilitation During the Subacute Stage

Objective@#To investigate the usefulness of goal attainment scaling (GAS) in intensive stroke rehabilitation during the subacute stage. @*Methods@#Medical records of subacute post-stroke patients who had undergone intensive rehabilitation under hospitalization, before and after the application of GAS, were collected. GAS was conducted at the initial evaluation of each patient. Specific goals were suggested by physical and occupational therapists and were determined by the responsible physiatrist. A 5-point scale was used for the GAS score after 4 weeks of rehabilitation according to the preset criteria of each goal. To evaluate the influence of GAS in rehabilitation practice, functional improvements were compared between two patient groups before (n=121) and after (n=141) GAS. To assess progress in GAS practice, the standard GAS score was calculated, and the changes were observed over a 3-year period. The standard GAS score converged to 50 points when the goal was achieved. The therapists who used GAS also completed a survey regarding its usefulness. @*Results@#There were no statistical differences in the motor and cognitive outcomes of the patient groups before and after applying GAS scoring. Successive yearly changes in the standard GAS scores showed progressive convergence to 50 points, signaling that the patient’s goal-setting abilities improved. According to the survey, most therapists felt that GAS enhanced the quality of therapies (84.6%). @*Conclusion@#GAS improved goal-setting for the rehabilitation of subacute post-stroke patients and might have a positive effect on rehabilitation.

Relationship Between Line Bisection Test Time and Hemispatial Neglect Prognosis in Patients With Stroke: A Prospective Pilot Study

Objective@#To determine the relationship between line bisection test (LBT) performance time and prognosis of hemispatial neglect (HSN) in stroke patients. @*Methods@#Data on stroke patients with HSN were prospectively collected. After patient recruitment and eligibility screening, the LBT, Motor-Free Visual Perception Test 3rd edition, and Korean version of Mini-Mental State Examination were performed at the time of admission and 4 weeks thereafter. The LBT performance time was also measured. All patients received conventional rehabilitation for 4 weeks. Based on the improvements in their LBT grades, the patients were divided into improved and non-improved groups. The evaluation results of the two groups were compared using Mann–Whitney U-tests and logistic regression was performed to predict the independence of each outcome. @*Results@#In total, 26 stroke patients with HSN were included, with 13 patients in each group. Significant differences were observed in the baseline LBT performance times between the improved and non-improved groups (p<0.05). Logistic regression analysis revealed associations between HSN prognosis, and baseline LBT performance time (odds ratio=0.95; 95% confidence interval, 0.90–1.00; p<0.05) and baseline Motor-Free Visual Perception Test 3rd edition (odds ratio=1.20; 95% confidence interval, 1.01–1.43; p<0.05). @*Conclusion@#A significant relationship was observed between the baseline LBT performance time and HSN prognosis.

Short-Term Pain Relief by Repetitive Peripheral Magnetic Stimulation in Patients with Musculoskeletal Pain: A Pilot Study

Objective@#Recent studies have shown that repetitive peripheral magnetic stimulation (rPMS) reduces pain in various conditions. This pilot study aimed to investigate the effects of rPMS depending on the pain characteristics. Method: Adult patients aged 19∼85 years evaluated at our institution between September 1, 2017 and February 28, 2018 for subacute to chronic musculoskeletal pain equivalent to a numeric rating scale of 3 or higher for at least one month were enrolled. Pain scores as determined using a numeric rating scale at baseline and at the end of treatment were set as the primary outcome. Additionally, we classified the pain into nociceptive, intermediate, or neuropathic pain using the PainDETECT questionnaire and compared the responsiveness to rPMS according to the type of pain. @*Results@#The average pain scores significantly decreased after the 2-week rPMS treatment in all enrolled subjects (p＜0.001). There was no statistically significant difference in pain reduction between groups divided by PainDETECT questionnaire. @*Conclusion@#This study suggests that rPMS could safely relieve various types of pain.

Short-Term Pain Relief by Repetitive Peripheral Magnetic Stimulation in Patients with Musculoskeletal Pain: A Pilot Study

Objective@#Recent studies have shown that repetitive peripheral magnetic stimulation (rPMS) reduces pain in various conditions. This pilot study aimed to investigate the effects of rPMS depending on the pain characteristics. Method: Adult patients aged 19∼85 years evaluated at our institution between September 1, 2017 and February 28, 2018 for subacute to chronic musculoskeletal pain equivalent to a numeric rating scale of 3 or higher for at least one month were enrolled. Pain scores as determined using a numeric rating scale at baseline and at the end of treatment were set as the primary outcome. Additionally, we classified the pain into nociceptive, intermediate, or neuropathic pain using the PainDETECT questionnaire and compared the responsiveness to rPMS according to the type of pain. @*Results@#The average pain scores significantly decreased after the 2-week rPMS treatment in all enrolled subjects (p＜0.001). There was no statistically significant difference in pain reduction between groups divided by PainDETECT questionnaire. @*Conclusion@#This study suggests that rPMS could safely relieve various types of pain.

Intensive Rehabilitation Therapy Following Brain Tumor Surgery: A Pilot Study of Effectiveness and Long-Term Satisfaction

OBJECTIVE: To evaluate the effectiveness of intensive rehabilitation to support recovery of neurological function after brain tumor surgery and assess long-term satisfaction. METHODS: This retrospective study included patients with neurological impairment after brain tumor surgery who underwent intensive rehabilitation therapy between December 2013 and May 2017. To assess effectiveness of rehabilitation, functional outcomes (motor, cognition, and activities of daily living [ADL]) were compared between brain tumor group and a control group enrolling stroke patients who received equivalent rehabilitation during the study period. Long-term satisfaction with rehabilitation was evaluated by surveying family caregivers. RESULTS: This study included 21 patients with benign brain tumor, 14 with malignant brain tumor, and 108 with stroke. Significant and similar improvement in motor, cognition, and ADL function were noted in both the brain tumor group and the stroke group. Malignancy status did not influence the extent of functional improvement. According to medical records and surveys, 9 (69.2%) patients with malignant tumor and 2 (11.8%) with benign tumor had expired by the time of the survey. Most family caregivers confirmed that rehabilitation was effective for functional improvement (>60%), expressing overall satisfaction and stating they would recommend such therapy to patients with similar conditions (approximately 70%). CONCLUSION: Intensive rehabilitation may help promote functional improvement following brain tumor surgery regardless of malignancy compared with stroke patients. Family caregivers expressed overall satisfaction with rehabilitation at long-term follow-up. These findings support the provision of intensive rehabilitation therapy for neurologic function recovery following brain tumor surgery.

Obese Subjects with Non-Alcoholic Fatty Liver Disease Have a Higher Risk of Thyroid Dysfunction / 고신대학교의과대학학술지

OBJECTIVES: The effects of obesity on thyroid function have not been well established. The aim of this study was to investigate the effects of body mass index (BMI) and/or non-alcoholic fatty liver disease (NAFLD) on thyroid function.METHODS: A retrospective longitudinal analysis was conducted among subjects who underwent comprehensive health check-ups at least four times between 2008 and 2017. Thyroid function was investigated according to BMI or presence of NAFLD at the end of follow-up. The subjects were divided into four groups: control (n = 216), subjects with obese (n = 94), subjects with NAFLD (n = 48), and subjects with obese + NAFLD (n = 93). Obesity was defined as BMI ≥ 25 kg/m².RESULTS: During the mean follow-up of 6.8 years (6.8 ± 1.2 years), 42 of the 451 subjects (9.3%) had subclinical hypothyroidism (SCH) but no subjects developed overt hypothyroidism. In multivariate Cox proportional hazard analysis, after adjustment for age, sex, smoking, and baseline thyroid stimulating hormone level, obese subjects with NAFLD had a higher risk of SCH than the control group.CONCLUSIONS: The obese subjects with NAFLD had a higher risk for SCH in the future.

Comparative evaluation of the efficacy, safety, and hemostatic effect of 2% lidocaine with various concentrations of epinephrine

BACKGROUND: We evaluated the changes in mean arterial pressure (MAP) and heart rate (HR), and the anesthetic and hemostatic effects, after injection of 2% lidocaine containing various concentrations of epinephrine in rats and mice to determine the appropriate concentration of epinephrine in various anesthetic mixtures. METHODS: Rats and mice were randomly allocated to experimental groups: 2% lidocaine without epinephrine (L0), 2% lidocaine with epinephrine 1:200,000 (L200), 1:100,000 (L100), and 1:80,000 (L80). Changes in MAP and HR after administration of the anesthetic mixture were evaluated using a physiological recording system in rats. Onset and duration of local anesthesia was evaluated by pricking the hind paw of mice. A spectrophotometric hemoglobin assay was used to quantify the hemostatic effect. RESULTS: MAP increased in response to epinephrine in a dose-dependent manner; it was significantly higher in the L80 group than in the L0 group at 5 min post-administration. The HR was relatively lower in the L0 group than in the L80 group. The time required for onset of action was < 1 min in all evaluation groups. The duration of action and hemostatic effect of the local anesthetic were significantly better in the L200, L100, and L80 groups than in the L0 group. CONCLUSION: L200 demonstrated relatively stable MAP and HR values with satisfactory efficacy and hemostatic effect. L200 might be a better local anesthetic for dental patients in terms of anesthetic efficacy and safety.

Cost-Benefit Analysis of Malaria Chemoprophylaxis and Early Diagnosis for Korean Soldiers in Malaria Risk Regions

BACKGROUND: Chemoprophylaxis has been used to prevent malaria among soldiers and secondary transmission, as it effectively facilitates a decline in disease occurrence and secondary prevention. However, poor compliance and decreased risk of exposure to malaria necessitate that control strategies be reestablished. METHODS: To predict the incidence of malaria according to a control strategy, we proposed a mathematical model for its transmission using epidemiological data from 2010 to 2012. The benefit component included in the analyses was the averted cost with each control strategy, and the cost components were the cost of implementing chemoprophylaxis and early diagnosis. RESULTS: The chemoprophylaxis regimen with hydroxychloroquine sulfate and primaquine was Intervention 1, the regimen with primaquine only was Intervention 2, and diagnosis with a rapid diagnostic test (RDT) kit within 5 days of fever was Intervention 3. The simulation indicated that the combined control program with chemoprophylaxis and early diagnosis would be the most effective strategy, whereas sole early diagnosis would be the least effective strategy. However, the cost-benefit ratio of chemoprophylaxis was less than Intervention 1, irrespective of the varying range of chemoprophylaxis compliance, and that of early diagnosis was more than Intervention 1, regardless of the varying early diagnosis rate and demand for the RDT kit. Although chemoprophylaxis would be more effective at reducing the incidence of malaria than early diagnosis, it is less economical due to the higher cost. CONCLUSION: Our results support the introduction of early diagnosis with a RDT kit to control malaria in the Republic of Korea Army.

Peripheral Blood Mononuclear Cells and Growth Factor Therapy for Cerebral Palsy

No abstract available.

Needle Entry Angle to Prevent Carotid Sheath Injury for Fluoroscopy-Guided Cervical Transforaminal Epidural Steroid Injection

OBJECTIVE: To suggest rotation angles of fluoroscopy that can bypass the carotid sheath according to vertebral levels for cervical transforaminal epidural steroid injection (TFESI). METHODS: Patients who underwent cervical spine magnetic resonance imaging (MRI) from January 2009 to October 2017 were analyzed. In axial sections of cervical spine MRI, three angles to the vertical line (α, angle not to insult carotid sheath; β, angle for the conventional TFESI; γ, angle not to penetrate carotid artery) were measured. RESULTS: Alpha (α) angles tended to increase for upper cervical levels (53.3° in C6-7, 65.2° in C5-6, 75.3° in C4-5, 82.3° in C3-4). Beta (β) angles for conventional TFESI showed a constant value of 45° to 47° (47.5° in C6-7, 47.4° in C5-6, 45.7° in C4-5, 45.0° in C3-4). Gamma (γ) angles increased at higher cervical levels as did α angles (25.2° in C6-7, 33.6° in C5-6, 43.0° in C4-5, 56.2° in C3-4). CONCLUSION: The risk of causing injury by penetrating major vessels in the carotid sheath tends to increase at upper cervical levels. Therefore, prior to cervical TFESI, measuring the angle is necessary to avoid carotid vessels in the axial section of CT or MRI, thus contributing to a safer procedure.

Reliability and Validity of the Korean Kessler Foundation Neglect Assessment Process

OBJECTIVE: To develop the Korean version of the Kessler Foundation Neglect Assessment Process (KF-NAP), which enables a more functional assessment of unilateral spatial neglect, by first translating it into Korean and then statistically standardizing it. METHODS: Two rehabilitation specialists translated the KF-NAP into Korean. The entire process of administering the Korean KF-NAP to 30 patients with brain disease was video-recorded. Five occupational therapists from 4 university hospitals nationwide evaluated the 30 video-recorded examination cases. We analyzed inter- and intra-reliabilities of the Korean KF-NAP using the intraclass coefficient and Pearson correlation coefficient. Internal consistency reliability of the assessment categories was also examined using Cronbach's alpha coefficient. RESULTS: For the construct validation study, the Korean KF-NAP was strongly correlated with the Albert's test and letter cancellation test (r ≥ 0.8; p < 0.05). The intraclass correlation coefficients for the first and second assessments of the Korean KF-NAP were 0.973 and 0.982, respectively, showing high reliability (p < 0.05). The intra-rater reliabilities exceeded 0.9 (p < 0.05), and Cronbach's alpha coefficient exceeded 0.8, showing internal consistency reliability. CONCLUSION: The Korean KF-NAP is a reliable and valid instrument for assessing hemispatial neglect symptoms in patients with brain diseases.

Decrement of Serum Vitamin D Level After Stroke

OBJECTIVE: To investigate the serum vitamin D level and its determinant factors in stroke patients. METHODS: Fifty-one stroke patients who had documented serum level of 25-hydroxyvitamin D(25(OH)D) were included. Patients were divided into subacute (n=23) and chronic groups (n=28). The mean levels of 25(OH)D of the two groups were compared. Correlations between each 25(OH)D level and post-stroke duration were also analyzed. To assess other possible influencing factors, patients were subdivided by ambulation ability and feeding methods for comparison of 25(OH)D level. RESULTS: The mean level of 25(OH)D was significantly lower in the chronic group than in the subacute group (12.3 vs. 16.3 ng/mL; p < 0.05). The serum 25(OH)D level decreased according to the duration after stroke (r=−0.52, p=0.01). Patients with a history of total parenteral nutrition had lower 25(OH)D levels than subjects who had enteral nutrition in the subacute group (7.3 vs. 18.8 ng/mL; p < 0.01). However, the levels of 25(OH)D were not different between the oral feeding and tube feeding groups. Among the chronic group subjects, patients who could walk without assistance had higher 25(OH)D levels than non-ambulatory patients (ambulatory vs. non-ambulatory group; 18.3 vs. 11.3 ng/mL; p < 0.05). CONCLUSION: After stroke onset, serum vitamin D level decreases with time regardless of feeding methods, and total parenteral nutrition may aggravate its deficiency. In terms of long-term care, non-ambulatory patients might be at a higher risk of vitamin D deficiency. Supplementation of vitamin D should be considered especially for stroke patients who are non-ambulatory and on total parenteral nutrition.

Decrement of Serum Vitamin D Level After Stroke

OBJECTIVE: To investigate the serum vitamin D level and its determinant factors in stroke patients. METHODS: Fifty-one stroke patients who had documented serum level of 25-hydroxyvitamin D(25(OH)D) were included. Patients were divided into subacute (n=23) and chronic groups (n=28). The mean levels of 25(OH)D of the two groups were compared. Correlations between each 25(OH)D level and post-stroke duration were also analyzed. To assess other possible influencing factors, patients were subdivided by ambulation ability and feeding methods for comparison of 25(OH)D level. RESULTS: The mean level of 25(OH)D was significantly lower in the chronic group than in the subacute group (12.3 vs. 16.3 ng/mL; p < 0.05). The serum 25(OH)D level decreased according to the duration after stroke (r=−0.52, p=0.01). Patients with a history of total parenteral nutrition had lower 25(OH)D levels than subjects who had enteral nutrition in the subacute group (7.3 vs. 18.8 ng/mL; p < 0.01). However, the levels of 25(OH)D were not different between the oral feeding and tube feeding groups. Among the chronic group subjects, patients who could walk without assistance had higher 25(OH)D levels than non-ambulatory patients (ambulatory vs. non-ambulatory group; 18.3 vs. 11.3 ng/mL; p < 0.05). CONCLUSION: After stroke onset, serum vitamin D level decreases with time regardless of feeding methods, and total parenteral nutrition may aggravate its deficiency. In terms of long-term care, non-ambulatory patients might be at a higher risk of vitamin D deficiency. Supplementation of vitamin D should be considered especially for stroke patients who are non-ambulatory and on total parenteral nutrition.

Degree of Contribution of Motor and Sensory Scores to Predict Gait Ability in Patients With Incomplete Spinal Cord Injury

OBJECTIVE: To identify different contributions of motor and sensory variables for independent ambulation of patients with incomplete spinal cord injury (SCI), and reveal the most significant contributors among the variables. METHODS: The retrospective study included 30 patients with incomplete SCI and lesions were confirmed by magnetic resonance imaging. Motor and sensory scores were collected according to the International Standards for Neurological Classification of Spinal Cord Injury. The variables were analyzed by plotting ROC (receiver operating characteristic) curves to estimate their differential contributions for independent walking. The most significant functional determinant was identified through the subsequent logistic regression analysis. RESULTS: Motor and sensory scores were significantly different between the ambulators and non-ambulators. The majority was associated to the function of lower extremities. Calculation of area under ROC curves (AUC) revealed that strength of hip flexor (L2) (AUC=0.905, p < 0.001) and knee extensor (L3) (AUC=0.820, p=0.006) contributed the greatest to independent walking. Also, hip flexor strength (L2) was the single most powerful predictor of ambulation by the logistic regression analysis (odds ratio=6.3, p=0.049), and the model fit well to the data. CONCLUSION: The most important potential contributor for independent walking in patients with incomplete SCI is the muscle strength of hip flexors, followed by knee extensors compared with other sensory and motor variables.

Changes in Activation of Serratus Anterior, Trapezius and Latissimus Dorsi With Slouched Posture

OBJECTIVE: To compare quantitative muscle activation between erect and slouched sitting postures in the muscles around the scapula, and to investigate the correlation between the angle of thoracic kyphosis and the alteration of muscle activity depending on two different sitting postures. METHODS: Ten healthy males participated in the study. Unilateral surface electromyography (SEMG) was performed for serratus anterior, middle trapezius (MT), and lower trapezius (LT), which are scapular stabilizer muscles, as well as latissimus dorsi. Participants elevated their shoulders for 3 seconds up to 90° abduction in the scapular plane, tilting 30° anterior in the coronal plane. They were told to hold the position for 10 seconds and voluntary isometric contractions were recorded by SEMG. These movement procedures were conducted for three times each for erect and slouched sitting postures and data were averaged. RESULTS: Activities of MT and LT increased significantly more in the slouched sitting posture than in the erect one. There was no significant correlation between kyphotic angle and the area under curve of each muscle. CONCLUSION: Because MT and LT are known as prime movers of scapular rotation, the findings of this study support the notion that slouched sitting posture affects scapular movement. Such scapular dyskinesis during arm elevation leads to scapular stabilizers becoming overactive, and is relevant to muscle fatigue. Thus, slouched sitting posture could be one of the risk factors involved in musculoskeletal pain around scapulae.

Energy Expenditures for Activities of Daily Living in Korean Young Adults: A Preliminary Study

OBJECTIVE: To investigate the energy expenditure (EE) of Korean young adults based on activities refined to a deskbound lifestyle. METHODS: Sixty-four healthy office workers aged between 25 and 46 years participated in this study. EE was expressed as metabolic equivalent of task (MET). Participants were evaluated in terms of their EE during physical activities of sleeping (n=22), typing (n=37), folding laundry (n=34), dishwashing (n=32), studying (n=18), mopping (n=35), walking (n=33), stair climbing (n=23), and running (n=29). Volume of oxygen consumption was measured by indirect calorimetry K4b² (COSMED). The results were compared to the established Compendium MET. RESULTS: The MET of activities were: sleeping, 1.24±0.43; typing, 1.35±0.25; folding laundry, 1.58±0.51; dishwashing, 2.20±0.51; studying, 2.11±0.90; mopping, 2.72±0.69; walking at 4 km/hr, 3.48±0.65; stair climbing of five stories, 6.18±1.08; and running at 8 km/hr, 7.57±0.57. The values of typing and mopping were similar to those in the Compendium, whereas those of sleeping, folding laundry, dishwashing, studying, walking, stair climbing and running were different. CONCLUSION: To our knowledge, this estimation of EE in MET during activities of daily living is the first data of young adults in Korea. These data could be used as a reference to modify the guidelines of physical activities for the age group examined in this study.

Gross Motor Function Outcome After Intensive Rehabilitation in Children With Bilateral Spastic Cerebral Palsy

OBJECTIVE: To compare gross motor function outcomes in children with moderate to severe degrees of bilateral spastic cerebral palsy (CP) who received either intensive inpatient rehabilitation or intermittent rehabilitation on an outpatient basis. METHODS: A non-biased retrospective chart review was done for patients diagnosed with bilateral spastic CP who received rehabilitation therapy. The intensive rehabilitation group (inpatient group) agreed to be hospitalized to receive 22 sessions of physical and occupational therapy per week for 1 month. The intermittent rehabilitation group (outpatient group) received four sessions of physical and occupational therapy per week for 3 months in an outpatient setting. Changes in the total score on the Gross Motor Function Measure (GMFM) between baseline and the follow-up period were analyzed. RESULTS: Both groups showed significant improvements in total GMFM scores at the follow-up assessment compared to that at baseline (p=0.000 for inpatient group, p=0.001 for outpatient group). The increase in mean total GMFM score after 1 month was significantly greater in the inpatient group than that in the outpatient group (p=0.020). Higher increase in GMFM score was observed in younger subjects as revealed by the negative correlation between age and the increase in GMFM score after 1 month (p=0.002, r=-0.460). CONCLUSION: Intensive inpatient rehabilitation therapy for patients with bilateral spastic CP of moderate to severe degree was more effective for improving gross motor function than intermittent rehabilitation therapy on an outpatient basis.

MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report

Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.