• Journal of Genetic Medicine
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• 제17권1호
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• pp.43-46
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• 2020

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

• Annals of Pediatric Endocrinology and Metabolism
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• 제23권4호
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• pp.220-225
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• 2018

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent $M{\ddot{u}}llerian$ duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권3호
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• pp.217-224
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• 2019

Purpose: Various publications on the use of sedation and anesthesia for diagnostic procedures in children have demonstrated that no ideal agent is available. Although propofol has been widely used for sedation during esophagogastroduodenoscopy in children, adverse events including hypoxia and hypotension, are concerns in propofol-based sedation. Propofol is used in combination with other sedatives in order to reduce potential complications. We aimed to analyze whether the administration of midazolam would improve the safety and efficacy of propofol-based sedation in diagnostic esophagogastroduodenoscopies in children. Methods: We retrospectively reviewed the hospital records of children who underwent diagnostic esophagogastroduodenoscopies during a 30-month period. Demographic characteristics, vital signs, medication dosages, induction times, sedation times, recovery times, and any complications observed, were examined. Results: Baseline characteristics did not differ between the midazolam-propofol and propofol alone groups. No differences were observed between the two groups in terms of induction times, sedation times, recovery times, or the proportion of satisfactory endoscopist responses. No major procedural complications, such as cardiac arrest, apnea, or laryngospasm, occurred in any case. However, minor complications developed in 22 patients (10.7%), 17 (16.2%) in the midazolam-propofol group and five (5.0%) in the propofol alone group (p=0.010). Conclusion: The sedation protocol with propofol was safe and efficient. The administration of midazolam provided no additional benefit in propofol-based sedation.

• Investigative Magnetic Resonance Imaging
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• 제25권2호
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• pp.101-108
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• 2021

Purpose: To identify characteristic magnetic resonance imaging (MRI) features to differentiate between Krabbe disease and metachromatic leukodystrophy (MLD) in young children. Materials and Methods: We collected all confirmed cases of Krabbe disease and MLD between October 2004 and September 2020 at Seoul National University Children's Hospital. Patients with initial MRI available were included. Their initial MRIs were retrospectively reviewed for the following: 1) presence of white matter signal abnormality involving the periventricular and deep white matter, subcortical white matter, internal capsule, brainstem, and cerebellum; 2) presence of volume decrease and signal alteration in the corpus callosum and thalamus; 3) presence of the tigroid sign; 4) presence of optic nerve hypertrophy; and 5) presence of enhancement or diffusion restriction. Results: Eleven children with Krabbe disease and 12 children with MLD were included in this study. There was no significant difference in age or symptoms at onset. Periventricular and deep white matter signal alterations sparing the subcortical white matter were present in almost all patients of the two groups. More patients with Krabbe disease had T2 hyperintensities in the internal capsule and brainstem than patients with MLDs. In contrast, more patients with MLD had T2 hyperintensities in the splenium and genu of the corpus callosum. No patient with Krabbe disease showed T2 hyperintensity in the corpus callosal genu. A decrease in volume in the corpus callosum and thalamus was more frequently observed in patients with Krabbe disease than in those with MLD. Other MRI findings including the tigroid sign and optic nerve hypertrophy were not significantly different between the two groups. Conclusion: Signal abnormalities in the internal capsule and brainstem, decreased thalamic volume, decreased splenial volume accompanied by signal changes, and absence of signal changes in the callosal genu portion were MRI findings suggestive of Krabbe disease rather than MLD based on initial MRI. Other MRI findings such as the tigroid sign could not help differentiate between these two diseases.

• Journal of Genetic Medicine
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• 제9권2호
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• pp.98-100
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• 2012

Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving radial-ray, thenar, and carpal bones, and congenital heart malformations including atrial septal defect and ventricular septal defect. It is caused by mutations in the TBX5 gene. In this report, a Korean case with HOS is described, which is inherited from her father. A novel nonsense mutation, $p.Glu294^*$, was identified. This is the first Korean case with HOS confirmed by genetic testing.

• Clinical and Experimental Pediatrics
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• 제56권7호
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• pp.308-311
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• 2013

In this report, we present a pediatric case of severe symptomatic hypermagnesemia resulting from the use of magnesium oxide as a laxative in a child undergoing continuous cyclic peritoneal dialysis for end-stage renal disease. The patient showed abnormal electrocardiography (ECG) findings, such as tall T waves, a widened QRS complex, and irregular conduction, which were initially misdiagnosed as hyperkalemia; later, the correct diagnosis of hypermagnesemia was obtained. Emergent hemodialysis successfully returned the serum magnesium concentration to normal without complications. When abnormal ECG changes are detected in patients with renal failure, hypermagnesemia should be considered.

• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.242-246
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• 2016

Craniosynostosis is the premature fusion of calvarial sutures, resulting in deformed craniofacial appearance. Hence, for a long time, it has been considered an aesthetic disorder. Fused sutures restrict growth adjacent to the suture, but compensatory skull growth occurs to accommodate the growing brain. The primary goal for the management of this craniofacial deformity has been to release the constricted skull and reform the distorted shape of the skull vault. However, the intellectual and behavioral prognosis of affected children has also been taken into consideration since the beginning of the modern era of surgical management of craniosynostosis. A growing body of literature indicates that extensive surgery, such as the whole-vault cranioplasty approach, would result in better outcomes. In addition, the age at treatment is becoming a major concern for optimal outcome in terms of cosmetic results as well as neurodevelopment. This review will discuss major concerns regarding neurodevelopmental issues and related factors.

• Journal of Acupuncture Research
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• 제19권5호
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• pp.73-91
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• 2002

Objective : The purpose of this study is to assess treatment of children's bell's palsy based on physiological and pathological character. Methods : At the age of 0 to 15, 30 bell's palsy out-patients who visited and treated more than 3weeks at the Department of Acupuncture & Moxibustion, Dong-indang Oriental Medicine Hospital, from 07-01-2001 to 06-30-2002. They were treated with Acupuncture, Herb, Aqua-acupuncture, Physical therapy and measured by HBGS(House-Brackmann Grading System) and DEFS(Detailed of Facial Symmetry of Phillsbury and Fisch) at visit and 3 weeks after. Result and Conclusion : Children's bell's palsy is mostly caused by recent upper respiratory infection and developed most frequently on March, September, seasonally in Spring, Autumn. A group of children's bell's palsy was marked much higher than a group of adult's bell's palsy conducted by Kim's report with oriental medicine in treatment outcome. But we discovered that there was not the signifcant difference between two groups.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.27-30
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• 2014

Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5) gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized by brachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variability of the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics of this condition in the Korean population.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권4호
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• pp.329-335
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• 2018

Loss of response to anti-tumor necrosis factor (anti-TNF) agents in the treatment of inflammatory bowel disease (IBD) is a major consideration to maintain sustained response. Reversal of immunogenicity can re-establish response and increase the durability of these agents. Strategies to reverse immunogenicity include dose-intensification and/or the addition of an immunomodulator. However, there is a relative paucity of data on the efficacy of such interventions in pediatric IBD patients. Available reports have not strictly utilized homogenous mobility shift assay, which reports on anti-drug antibodies even in the presence of detectable drug, whereas prior studies have been confounded by the use of drug sensitive assays. We report four pediatric inflammatory bowel disease patients with successful reversal of immunogenicity on an anti-TNF agent using dose intensification and/or addition of an immunomodulator.