• Clinical Nutrition Research
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• v.12 no.3
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• pp.169-176
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• 2023

Glucose transporter type 1 (GLUT1) deficiency syndrome (DS) is a metabolic brain disorder caused by a deficiency resulting from SLC2A1 gene mutation and is characterized by abnormal brain metabolism and associated metabolic encephalopathy. Reduced glucose supply to the brain leads to brain damage, resulting in delayed neurodevelopment in infancy and symptoms such as eye abnormalities, microcephaly, ataxia, and rigidity. Treatment options for GLUT1 DS include ketogenic diet (KD), pharmacotherapy, and rehabilitation therapy. Of these, KD is an essential and the most important treatment method as it promotes brain neurodevelopment by generating ketone bodies to produce energy. This case is a focused study on intensive KD nutritional intervention for an infant diagnosed with GLUT1 DS at Gangnam Severance Hospital from May 2022 to January 2023. During the initial hospitalization, nutritional intervention was performed to address poor intake via the use of concentrated formula and an attempt was made to introduce complementary feeding. After the second hospitalization and diagnosis of GLUT1 DS, positive effects on the infant's growth and development, nutritional status, and seizure control were achieved with minimal side effects by implementing KD nutritional intervention and adjusting the type and dosage of anticonvulsant medications. In conclusion, for patients with GLUT1 DS, it is important to implement a KD with an appropriate ratio of ketogenic to nonketogenic components to supply adequate energy. Furthermore, individualized and intensive nutritional management is necessary to improve growth, development, and nutritional status.

• Clinical and Experimental Pediatrics
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• v.48 no.5
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• pp.527-533
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• 2005

Purpose : Long-term administration of anticonvulsants in children with epilepsy may cause short stature, hypocalcemia and low bone mineral density. This study was performed for the early detection of abnormal bone metabolism in children with epilepsy on taking anticonvulsants. Methods : Thirty children aged 5 to 16 years who were diagnosed with epilepsy were enrolled in this study. All had taken anticonvulsants for more than one year. Bone mineral density of lumbar vertebra was measured by dual-energy X-ray absorptiometry. Serum calcium, phosphorous, alkaline phosphatase, 25-hydroxycholecalciferol[$25(OH)D_3$], parathyroid hormone, and urine deoxypyridinoline were measured as biochemical bone markers. Bone age and body mass index were also calculated. Results : Bone minreal density, body mass index, bone age, and height were significantly decreased in two female patients who had taken two antiepileptic drugs for more than four years and they also had chronic diseases such as cerebral palsy with microcephaly, encephalomalacia, and microcephaly with atrial septal defect. Bone mineral density had significant positive correlations with body mass index(P<0.01) and bone age(P<0.01). Conclusion : This study showed chronic medication of anticonvulsants in children may cause low bone mineral density and short stature. Bone age and body mass index could be the important surrogate markers to find the population at risk. More studies, including a large study population and long term cohort study, will be required.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.14 no.12
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• pp.6413-6419
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• 2013

This study examined the irradiation effect of high energy x-rays on the hatching process of fertilized eggs, particularly with regard to malformation and blood cells change. The experimental groups were five day old fertilized eggs irradiated with x rays at doses of 5, 7.5, 10 Gyusing alinear accelerator. The control group was not irradiated. After three weeks, hatched chicks were sacrificed and examined for blood sampling. The survival rate of the x-ray irradiated groups were significantly lower than that of the control group (46.7vs 80%). The malformation rate of the experimental groups was60%, whereas no congenital malformations were observed in the control group. The experimental groups had a significantly higher malformation rate. The types of malformation were left wing defect, proptosis, microcephaly, cervical spine, and feet anomaly. The incidence of malformation increased with increasing radiation dose. The white blood cell count of control group and eachexperimental groups (5 and 7.5 Gy) were 87.64, 100.76 and 81.42 ($10^3/{\mu}L$), respectively. X-ray irradiation of 5 day old chick embryos increased the rate of death and malformation significantly.The malformations were estimated to have occurred by chromosomal abnormalities. Further genetic studies will be needed to confirm the correlation between high energy X-rays and the cause of malformations.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.1
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• pp.166-170
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• 2001

Rubinstein-Tabyi syndrome(RTS) is a congenital multisystem dysmorphic syndrome with many non-specific features, making diagnosis occasionally difficult. The major features of this syndrome include mental retardation, characteristic facial appearance, short stature, microcephaly, and broad thumbs and halluces. This syndrome was first described by Rubinstein and Tabyi in 1963, and many studies have been continued about this syndrome, but specific pathogenesis of the Rubinstein-Tabyi syndrome phenotype is still not clear. High arched palate, micrognathia and multiple caries etc have been reported in Rubinstein-Tabyi syndrome. In this report, a 6-year and 5-month-old boy visited at our department due to multiple dental caries, who showed broad thumbs, mental and physical development retardation, and characteristic facial appearance including both ptosis and ear deformity. This patient was diagnosed as a Rubinstein-Tabyi syndrome, and treated the multiple dental caries under general anesthesia. This study was aimed to observe the relationship between medical and dental characteristics.

• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.546-550
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• 2008

In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals- like the mother of this case- who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels. A number of studies have now demonstrated considerable variability in blood vs. brain phenylalanine levels in phenylketonuria patients. Outcome of phenylketonuria appears to be related to brain phenylalanine levels. We report a case of "undiagnosed" maternal phenylketonuria syndrome. A female infant had low birth weight (2,400 g) with microcephaly. We examined her family and discovered that her mother was an undiagnosed phenylketonuria patient with a borderline intelligence quotient (IQ). The infant's sister, six years old, was diagnosed with phenylketonuria at the age of four years was mentally retarded and had received an operation for cleft lip and palate. the sister had also had a low birth weight (2,300 g). Her sister and mother were compound heterozygotes (mother: R243Q/Y325X; sister: Y325X/P407S). The infant and father were heterozygous carriers (baby: R243Q/ -; father: P407S/ - ).

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.91-94
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• 2003

Raine syndrome was described as an unknown syndrome in 1989. It is characterized by severe craniofacial anomalies with microcephaly, hypoplastic nose, depressed nasal bridge, exophthamos/protosis, gum hypertrophy, cleft palate, low-set ears, small mandible, narrow chest, wide cranial sutures and choanal atresia or stenosis, by generalized osteosclerosis with subperiosteal thickening of ribs, clavicles and diaphysis of long bones, and by intracranial calcifications in the particularly periventricular area. It undergoes an autosomal recessive inheritance. Twelve cases of Raine syndrome have been reported in the literature. However, a case of Raine syndrome in Korea has not been reported yet. Therefore, we describe a female newborn with Raine syndrome with a brief review of the literatures.

• Pediatric Infection and Vaccine
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• v.24 no.1
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• pp.65-70
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• 2017

Cytomegalovirus (CMV) infection is one of the most common congenital infections. The first case of discordant congenital CMV infection in twins occurred in Korea. A 31-year-old woman became pregnant with twins (dichorionic-diamniotic). An elective caesarean section was performed at 37 weeks. The first baby was male, weighing 2,410 g with an Apgar score of 8/9. The second baby was female, weighing 1,380 g with an Apgar score of 5/8. She had experienced intrauterine growth retardation, and presented with microcephaly, micrognathia, and joint stiffness. During the work-up for discordant twins, the second baby's serum test was positive for CMV immunoglobulin M. Her urine, blood, and cerebrospinal fluid (CSF) were CMV polymerase chain reaction positive. The first baby's CMV tests were negative. Ophthalmologic exam and audiometry performed on the second baby showed CMV retinitis and bilateral sensorineural hearing loss. She was treated with intravenous ganciclovir. Currently, she is bed-ridden and has significant developmental delay. Although the causes of discordant congenital CMV infection in twins are unclear, this case shows that discordant congenital CMV infection should be considered in twins with significant differences in intrauterine growth or clinical symptoms after birth.

• Journal of Microbiology and Biotechnology
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• v.29 no.10
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• pp.1665-1674
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• 2019

Zika virus (ZIKV) is a mosquito-transmitted, emerging Flavivirus that causes Guillain-$Barr{\acute{e}}$ syndrome and microcephaly in adults and fetuses, respectively. Since ZIKV was first isolated in 1947, severe outbreaks have occurred at various places worldwide, including Yap Island in 2007, French Polynesia in 2013, and Brazil in 2015. Although incidences of ZIKV infection and dissemination have drastically increased, the mechanisms underlying the pathogenesis of ZIKV have not been sufficiently studied. In addition, despite extensive research, the exact roles of individual ZIKV genes in the viral evasion of the host innate immune responses remain elusive. Besides, it is still possible that more than one ZIKV-encoded protein may negatively affect type I interferon (IFN) induction. Hence, in this study, we aimed to determine the modulations of the IFN promoter activity, induced by the MDA5/RIG-I signaling pathway, by over-expressing individual ZIKV genes. Our results show that two nonstructural proteins, NS2A and NS4A, significantly down-regulated the promoter activity of IFN-${\beta}$ by inhibiting multiple signaling molecules involved in the activation of IFN-${\beta}$. Interestingly, while NS2A suppressed both full-length and constitutively active RIG-I, NS4A had inhibitory activity only on full-length RIG-I. In addition, while NS2A inhibited all forms of IRF3 (full-length, regulatory domain-deficient, and constitutively active), NS4A could not inhibit constitutively active IRF3-5D. Taken together, our results showed that NS2A and NS4A play major roles as antagonists of MDA5/RIG-I-mediated IFN-${\beta}$ induction and more importantly, these two viral proteins seem to inhibit induction of the type I IFN responses in differential mechanisms. We believe this study expands our understanding regarding the mechanisms via which ZIKV controls the innate immune responses in cells and may pave the way to development of ZIKV-specific therapeutics.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.133-141
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• 2007

Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.