• Childhood Kidney Diseases
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• v.27 no.2
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• pp.105-110
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• 2023

Purpose: To analyze electrocardiograms (ECGs) of patients with a salt-losing tubulopathy (SLT) and to determine the frequency and risk factors for long QT and arrhythmia. Methods: A total of 203 patients aged <19 years with SLT, specifically Bartter syndrome and Gitelman syndrome, who had a 12-lead ECG were included in this retrospective study. We analyzed the presence of an arrhythmia or prolonged corrected QT (QTc) on ECGs obtained for these patients. Demographic and laboratory data were compared between patients with abnormal and normal ECG findings. Results: Out of the 203 SLT patients, 38 (18.7%) underwent electrocardiography and 10 (40.0%) of 25 patients with inherited SLT had abnormal ECG findings, including prolonged QTc and arrhythmias. The abnormal ECG group had significantly lower serum potassium levels than the normal group (median [interquartile range]: 2.50 mmol/L [2.20-2.83] vs. 2.90 mmol/L [2.70-3.30], P=0.036), whereas other serum chemistry values did not show significant differences. The cutoff level for a significant difference in QTc interval was serum potassium level <2.50 mmol/L. One cardiac event occurred in a 13-year-old boy, who developed paroxysmal supraventricular tachycardia and underwent cardiac ablation. No sudden cardiac deaths occurred in this cohort. Conclusions: The incidence of ECG abnormalities in patients with inherited SLT was 40.0%, whereas the ECG screening rate was relatively low (18.7%). Therefore, we recommend ECG screening in patients with inherited SLT, especially in those with serum potassium level <2.50 mmol/L.

• Journal of Korean Neurosurgical Society
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• v.66 no.6
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• pp.735-742
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• 2023

Nephrotic syndrome (NS) is associated with cerebral venous sinus thrombosis (CVST), which is a rare cerebrovascular disorder in children. Systemic anticoagulation with heparin is the standard therapy for CVST, and mechanical thrombectomy (MT) has been described as a salvage treatment for adult anticoagulant refractory CVST, However, it has never been reported in children. We describe a case of MT for refractory CVST in a child with NS. A 13-year-old boy with newly diagnosed NS presented to an emergency department with acute headache. A head computed tomography showed acute thrombus in the superior sagittal sinus, straight sinus and transverse sinus. The child was started on heparin therapy, but clinically deteriorated and became unresponsive. In view of the rapid deterioration of the condition after anticoagulation treatment, the patient received intravascular treatment. Several endovascular technologies, such as stent retriever and large bore suction catheter have been adopted. After endovascular treatment, the patient's neurological condition was improved within 24 hours, and magnetic resonance venography of the head demonstrated that the CVST was reduced. The child recovered with normal neurological function at discharge. This case highlights the importance of considering MT for refractory CVST, and we suggest that MT may be considered for refractory CVST with NS in children.

• Pediatric Infection and Vaccine
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• v.31 no.1
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• pp.140-146
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• 2024

Multisystem inflammatory syndrome in children (MIS-C) is a rare complication of coronavirus disease 2019 (COVID-19), causing multi-organ damage affecting the heart, lungs, kidneys, digestive tract, and nervous system. As the cases of MIS-C have been increasing following the COVID-19 pandemic, the importance of appropriate management for MIS-C is becoming increasingly apparent. Immunomodulating agents such as anakinra, infliximab, and steroids are regarded as supplementary therapy to the first-line treatment with intravenous immunoglobulin. However, these immunomodulating therapies can potentially precipitate opportunistic infections, including those caused by cytomegalovirus (CMV), Epstein-Barr virus, and tuberculosis, or increase the risk of co-infections. Herein, we report a case of a 3-year-old boy who was treated with immunoglobulin, infliximab, and high-dose methylprednisolone for MIS-C, and subsequently developed a persistent fever lasting 32 days caused by a CMV infection.

• Pediatric Infection and Vaccine
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• v.31 no.1
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• pp.136-139
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• 2024

Rhabdomyolysis is a syndrome that causes various complications due to the release of substances from muscle cells, often associated with preceding infectious diseases. We report the case of a 7-year-old Korean boy with recent severe acute respiratory syndrome coronavirus 2 infection, presenting with fever, chills, and generalized body aches, diagnosed as rhabdomyolysis. Additionally, we conducted a systematic review with the aim of delineating the disease spectrum, treatment, and outcomes. We identified seven reports that met the inclusion criteria. Among the cases, 5 had fever, with creatine kinase levels ranging from 3,717 and 274,664 IU/L. Two individuals received treatment in intensive care unit, 2 underwent renal replacement therapy, and 1 case has deceased. For children with coronavirus disease 2019 infection and muscle pain, a thorough examination of urine color and an assessment of muscle enzymes through blood tests can help diagnose and treat rhabdomyolysis, a condition that might otherwise be overlooked.

• Pediatric Infection and Vaccine
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• v.31 no.1
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• pp.147-152
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• 2024

There have been several case reports of neurological manifestations in pediatrics as severe acute respiratory syndrome coronavirus-2 infection in children is being increased. We report a case of a 4-year-old boy who presented febrile seizure during follow-up in a negative pressure isolation room after confirmed coronavirus disease 2019, which has not yet been reported in Korea. He has no symptoms other than fever. The seizure was controlled after one dose of intravenous lorazepam, and there was no respiratory support during the hospitalization. He was discharged 12 days later without neurological sequelae.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Journal of the Korean Society of Radiology
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• v.81 no.1
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• pp.237-242
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• 2020

Giant cell fibroblastoma (GCF) is a rare soft-tissue sarcoma of fibroblastic origin. To the best of our knowledge, only one brief description of the MRI findings of GCF exists in the pathologic literature. Herein, we report a case of histologically proven GCF in a 3-year-old boy who underwent ultrasonography and MRI of a superficial mass in the abdominal wall.

• Journal of the Korean Society of Radiology
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• v.83 no.3
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• pp.724-729
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• 2022

A duodenal web is an incomplete diaphragm of the duodenal lumen that causes a partial or (intermittent) complete obstruction. The size of a duodenal web's aperture determines the degree of obstruction, age at presentation, and radiologic findings. We report a case of duodenal web incidentally diagnosed in a 14-month-old boy who presented to the hospital after ingesting a foreign body. We provide a comprehensive report of multiple studies through abdominal radiograph, upper gastrointestinal study, endoscopy, and surgical findings. We emphasize that the duodenum should be considered as the location of the obstruction when infants exhibit delayed discharge or dynamic positioning of a foreign body in a radiologic examination.

• Journal of the Korean Society of Radiology
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• v.82 no.5
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• pp.1274-1280
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• 2021

Acute necrotizing encephalopathy (ANE) is a rare but distinctive type of influenza-associated encephalopathy characterized by symmetric multiple lesions with an invariable thalamic involvement. Although the exact pathogenesis of ANE remains unclear, the most prevalent hypothesis is the "cytokine storm," which results in blood-brain-barrier breakdown. We present the case of a 10-year-old boy with fulminant ANE confirmed with serial MRI studies, including diffusion-weighted imaging and susceptibility-weighted imaging. A comparison of these serial images demonstrated detailed and longitudinal changes in MRI findings during the clinical course corresponding to pathophysiological changes. Our case clarifies the pathogenesis of ANE brain lesions using serial imaging studies and suggests that early immunomodulatory therapy reduces brain damage.

• Pediatric Infection and Vaccine
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• v.30 no.3
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• pp.165-172
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• 2023

Pyogenic liver abscess is a rare condition in healthy children in developed countries, but it can have severe consequences if diagnosis and treatment are delayed. Staphylococcus aureus is the most commonly identified cause of pyogenic liver abscess worldwide, while Klebsiella pneumoniae is the predominant causative agent in Korea. However, cases of pyogenic liver abscess caused by anaerobic bacteria have also been rarely reported. A 14-year-old boy presented to the emergency room with fever and pain in the upper right abdomen. He exhibited tenderness in the right upper quadrant, elevated white blood cell count, anemia, and elevated liver enzyme levels. Abdominal computed tomography with contrast revealed pyogenic liver abscess. The patient underwent percutaneous catheter drainage for two weeks and received a 4-week course of antibiotic therapy. Prevotella intermedia, an anaerobic bacterium commonly found in the oral flora, was isolated from the drained pus. However, no evidence was found suggesting that the infection originated from a dental source. This case highlights the importance of considering the possibility of pyogenic liver abscess even in otherwise healthy children.