• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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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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• v.22 no.3
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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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• v.25 no.2
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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.

• Childhood Kidney Diseases
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• v.21 no.2
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• pp.89-93
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• 2017

Purpose: Virus-associated rhabdomyolysis is very rare. We report 15 patients with rhabdomyolysis caused by various viruses. Methods: Fifteen patients who were diagnosed with rhabdomyolysis and a viral infection were included in this study. Clinical, laboratory, and radiologic findings were evaluated through retrospective chart reviews. Results: Chief complaints were severe bilateral lower leg pain and leg weakness. The median age was 5.7 years. The male:female ratio was 2:5. The viral infections were caused by influenza virus B, parainfluenza virus, and rhinovirus. One patient with influenza virus B had coinfection with coronavirus. Median initial laboratory values and ranges were as follows: serum creatinine, 0.4 (0.1-0.5) mg/dL; serum aspartate transaminase, 124 (48-1,098) IU/L; serum alanine transaminase, 30 (16- 1,455) IU/L; serum creatine kinase, 2,965 (672-16,594) IU; serum lactate dehydrogenase, 400 (269-7,394) IU/L; serum myoglobin, 644 (314-3,867) ng/mL; urine myoglobin, 3 (3-10,431) ng/mL. All patients recovered without complications. Conclusion: This is the first report of the simultaneous occurrence of rhabdomyolysis caused by various viruses. This is also the first report of rhinovirus-associated rhabdomyolysis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.6
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• pp.565-570
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• 2019

Benign biliary strictures are uncommon in children. Classically, these cases are managed surgically, however less invasive approaches with interventional radiology and or endoscopy may have similar results and improved safety profiles While benign biliary strictures have been described in literature on several occasions in young children, (most older than 1 year and once in an infant 3 months of age), all reported cases were managed surgically. We present two cases of benign biliary strictures in infants less than 6 months of age that were managed successfully with novel non-invasive procedures and a review of all current pediatric cases reported in the literature. Furthermore, we describe the use of a Rendezvous procedure, which has not been reported as a treatment approach for benign biliary strictures.

• Journal of Korean Neurosurgical Society
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• v.63 no.3
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• pp.338-341
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• 2020

Cases of syringomyelia associated with spinal dysraphism are distinct from those associated with hindbrain herniation or arachnoiditis in terms of the suspected pathogenetic mechanism. The symptoms of terminal syringomyelia are difficult to differentiate from the symptoms caused by spinal dysraphism. Nonetheless, syringomyelia has important clinical implications, as it is an important sign of cord tethering. The postoperative assessment of syringomyelia should be performed with caution.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.3
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• pp.310-310
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• 2020

• Clinical and Experimental Pediatrics
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• v.61 no.8
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• pp.258-263
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• 2018

Purpose: Macrolide-resistant Mycoplasma pneumoniae pneumonia (MPP) is characterized by prolonged fever and radiological progression despite macrolide treatment. Few studies have examined serum procalcitonin (PCT) level in children with MPP. We aimed to investigate the association of acute inflammation markers including PCT with clinical parameters in children with MPP. Methods: A total of 147 children were recruited. The diagnosis of MPP relied on serial measurement of IgM antibody against mycoplasma and/or polymerase chain reaction. We evaluated the relationships between C-reactive protein (CRP), PCT, and lactate dehydrogenase (LDH) levels and white blood cell (WBC) counts, and clinical severity of the disease. We used multivariate logistic regression analysis to estimate the odds ratio for prolonged fever (>3 days after admission) and hospital stay (> 6 days), comparing quintiles 2-5 of the PCT levels with the lowest quintile. Results: The serum PCT and CRP levels were higher in children with fever and hospital stay than in those with fever lasting ${\leq}3days$ after admission and hospital stay ${\leq}6days$. CRP level was higher in segmental/lobar pneumonia than in bronchopneumonia. The LDH level and WBC counts were higher in children with fever lasting for >3 days before compared to those with fever lasting for ${\leq}3days$. The highest quintile of PCT levels was associated with a significantly higher risk of prolonged fever and/or hospital stay than the lowest quintile. Conclusion: Serum PCT and CRP levels on admission day were associated with persistent fever and longer hospitalization in children with MPP.

• Clinical and Experimental Pediatrics
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• v.59 no.12
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• pp.483-489
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• 2016

Purpose: We investigated the number of test takers of the Korean-Developmental Screening Test (K-DST) in a single children's hospital within a year, according to age, referral rate, and follow-up percentage. Methods: For this study, 4,062 children who visited and received K-DST at Woorisoa Children's Hospital between January and December 2015 were enrolled. Seven test sets were used according to the Korean National Health Screening Program for infants and children in the following age groups: 4 to 6, 9 to 12, 18 to 24, 30 to 36, 42 to 48, 54 to 60, and 66 to 71 months. The results of the K-DST were categorized into 4 groups as follows: further evaluation (<-2 standard deviation [-2SD]), follow-up test (-2SD to -1SD), peer level (-1SD to 1SD), and high level (>1SD). Results: The test participants' population and follow-up population were concentrated before the age of 24 months (2,532, 62.3%). The children most commonly referred for further evaluation were those in the 30- to 41-month age group. A mismatch was found between the results of the K-DST and the additional questions. Most of the infants and children with suspicious developmental delays showed catch-up development in their follow-up tests (43 of 55, 78.2%). Conclusion: The use of K-DST should be encouraged, especially among children aged over 24 months. Multiple-choice question format for the additional questions is recommended to avoid confusion. We suggest a nationwide study to evaluate and revise the K-DST.

• The Korean Journal of Pain
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• v.27 no.3
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• pp.253-259
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• 2014

Background: Caudal block is a common technique in children for reducing postoperative pain, and there have been several reports on the variations of the sacral canal in children. However, previous studies have mainly focused on the needle trajectory for caudal block, and there is limited information on the structural variations of the sacrum in children. The purpose of this study was to analyze the anatomic variations of sacral canals in children. Methods: Three-dimensional computed tomographic images were analyzed. The data from the images included (1) fusion of the sacral vertebral laminae and the sacral intervertebral space (2) existence of the sacral cornua and (3) the types of sacral hiatus. The types of sacral hiatus were classified into 3 groups: group I (fusion of S3 or S4 vertebral laminae), group II (unfused vertebral arch with the distance of the S3 and S4 vertebral laminae < 50% of the distance between the cornua), and group III (unfused vertebral arch with the distance of the S3 or S4 vertebral laminae ${\geq}50%$ of the distance between the cornua). Results: A total of 143 children were included in this study. All of the sacral vertebral arches were not fused in 22 children (15.4%). Cornua were not identified bilaterally in 5 (3.5%) and unilaterally in 6 (4.2%) children. In the sacral hiatus, group II and group III were identified in 22 (15.4%) and 31 (21.7%) children, respectively. Conclusions: The sacral canal has various anatomical variations in children. Careful attention must be paid to identify the correct anatomic landmark.