Juvenile rheumatoid arthritis (JRA) is the most common rheumatic childhood disease; its onset is before 16 years of age and it persists for at least 6 weeks. JRA encompasses a heterogeneous group of diseases that is classified according to 3 major presentations: oligoarthritis, polyarthritis, and systemic onset diseases. These presentations may originate from the same or different causes that involve...

Although milky nipple discharge appears frequently in infants, bloody nipple discharge is a very rare finding. We experienced a 4-month-old, breast-fed infant who showed bilateral bloody nipple discharge with no signs of infection, engorgement, or hypertrophy. The infant's hormonal examination and coagulation tests were normal, and an ultrasound examination revealed mammary duct ectasia. The symptoms resolved spontaneously within 6 weeks...

Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder. Bleeding manifestations and clinical findings vary widely, ranging from asymptomatic subjects to patients with hemorrhages that may cause significant handicaps. Treatment has traditionally involved factor VII(FVII) replacement therapy using fresh frozen plasma, prothrombin complex concentrates or plasma-derived FVII concentrates. Recombinant activated FVII (NovoSeven®) is currently considered the first-line treatment for...

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium...

Obstructive sleep apnea (OSA) in children is a frequent disease for which optimal diagnostic methods are still being defined. Treatment of OSA in children should include providing space, improving craniofacial growth, resolving all symptoms, and preventing the development of the disease in the adult years. Adenotonsillectomy (T&A) has been the treatment of choice and thought to solve young patient's OSA...

The prevalence of pediatric obstructive sleep apnea syndrome (OSAS) is approximately 3% in children. Adenotonsillar hypertrophy is the most common cause of OSAS in children, and obesity, hypotonic neuromuscular diseases, and craniofacial anomalies are other major risk factors. Snoring is the most common presenting complaint in children with OSAS, but the clinical presentation varies according to age. Agitated sleep with...

Transient magnetic resonance (MR) signal changes in the splenium of the corpus callosum (SCC) arise from many different conditions, including encephalopathy or encephalitis caused by infection, seizures, metabolic derangements, and asphyxia. Few case reports exist on reversible SCC lesions associated with rotavirus infection. A benign convulsion with mild gastroenteritis (CwG) is frequently associated with rotaviral infections. This entity is characterized...

Kawasaki disease (KD) causes multisystemic vasculitis but infrequently manifests with deep neck infections, such as a peritonsillar abscess, peritonsillar or deep neck cellulitis, suppurative parapharyngeal infection, or retropharyngeal abscess. As its etiology is still unknown, the diagnosis is usually made based on typical symptoms. The differential diagnosis between KD and deep neck infections is important, considering the variable head and...

Testicular torsion is rare in newborn infants. However, its frequency has increased, most of which are reported in full-term infants. We diagnosed and treated testicular torsion in an extremely low birth weight infant (ELBWI). A 2×2 cm red mass was palpable in the left groin of a 24-week-old, 745 g, male newborn at 23 days of age. Left testicular torsion...

Crohn's disease is characterized by chronic inflammation involving any portion of the gastrointestinal tract. Treating Crohn's disease is a major challenge for clinicians, as no curative therapy currently exists. Pediatric Crohn's disease is characterized by frequent relapses, a wide extent of disease, a high prevalence of extraintestinal manifestations, and a severe clinical course. The classic therapeutic approach is known as...

The safety and effectiveness of colonoscopy in the investigation of lower gastrointestinal tract pathology in children has been established for more than 2 decades in Korea. Skill and experience have since advanced to the point that both diagnostic and therapeutic colonoscopy are now routinely performed by most pediatric gastroenterologists. Pediatric colonoscopy differs significantly from its adult parallels in nearly every...

Gastrointestinal and colonic endoscopic examinations have been performed in pediatric patients in Korea for 3 decades. Endoscopic procedures are complex and may be unsafe if special concerns are not considered. Many things have to be kept in mind before, during, and after the procedure. Gastrointestinal endoscopy is one of the most frequently performed procedure in children nowadays, Since the dimension...

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset...

Although sodium nitroprusside (SNP) is often used in pediatric intensive care units, cyanide toxicity can occur after SNP treatment. To treat SNP-induced cyanide poisoning, antidotes such as amyl nitrite, sodium nitrite, sodium thiosulfate, and hydroxycobalamin should be administered immediately after diagnosis. Here, we report the first case of a very young infant whose SNP-induced cyanide poisoning was successfully treated by...

Induced pluripotent stem (iPS) cells are generated by epigenetic reprogramming of somatic cells through the exogenous expression of transcription factors. Recently, the generation of iPS cells from patients with a variety of genetic diseases was found to likely have a major impact on regenerative medicine, because these cells self-renew indefinitely in culture while retaining the capacity to differentiate into any...

In pre-surgical evaluation of pediatric epilepsy, the combined use of multiple imaging modalities for precise localization of the epileptogenic focus is a worthwhile endeavor. Advanced neuroimaging by high field Magnetic resonance imaging (MRI), diffusion tensor images, and MR spectroscopy have the potential to identify subtle lesions. ¹⁸F-FDG positron emission tomography and single photon emission tomography provide visualization of metabolic alterations...

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome....

A 13-year-old girl was diagnosed with non-cystic fibrosis (CF)-related multifocal bronchiectasis accompanied by nephrotic-range proteinuria of unknown cause. On renal biopsy, there were many segmental homogeneous deposits of amyloid tissue with positive Congo red staining in the glomeruli and interstitium. On electron microscopy, relatively straight, non-branching, randomly arranged amyloid fibrils were showed in the mesangium of the glomeruli. These fibrils...

Dense deposit disease (DDD) is a rare disorder characterized by the deposition of abnormal electron-dense material within the glomerular basement membrane of the kidneys. The diagnosis is made in most patients between 5 and 15 years of age, and within 10 years, approximately half of the affected patients progress to end-stage renal disease. We report a rare case of regressive...