Moyamoya disease (MMD) is the most common pediatric cerebrovascular disease in Far Eastern countries. In children, MMD frequently manifests as ischemic symptomatology. Cerebral perfusion gradually decreases as the disease progresses, which often leads to cerebral infarction. The benefits of revascularization surgery, whether direct or indirect, have been well established in MMD patients with ischemic symptoms. In adults, the increase in...

Noninferiority trials test whether a new experimental treatment is not unacceptably less efficacious than an active control treatment already in use. With continuous improvements in health technologies, standard care, and clinical outcomes, the incremental benefits of newly developed treatments may be only marginal over existing treatments. Sometimes assigning patients to a placebo is unethical. In such circumstances, there has been...

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental...

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive...

Urinary tract infection (UTI) is a common bacterial illness in children. Acute pyelonephritis in children may lead to renal scarring with the risk of later hypertension, preeclampsia during pregnancy, proteinuria, and renal insufficiency. Until now, vesicoureteral reflux (VUR) has been considered the most important risk factor for post-UTI renal scar formation in children. VUR predisposes children with UTI to pyelonephritis,...

Although most enterovirus infections are not serious enough to be life threatening, several enteroviruses such as enterovirus 71 are responsible for severe, potentially life-threatening disease. The epidemic patterns of enteroviruses occur regularly during the year, but they may change due to environmental shifts induced by climate change due to global warming. Therefore, enterovirus epidemiological studies should be performed continuously as...

Behçet disease (BD) is rare in childhood. We report a 9-year-old boy with neuro-Behçet disease who presented diplopia and weakness on the left side after a cerebral concussion. Brain magnetic resonance imaging (MRI) revealed hyperintensity of the right mesodiencephalic junction on T2-weighted and fluid attenuated inversion recovery images. Prednisolone administration resulted in complete remission and normalization of abnormal MRI finding....

An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons...

The ketogenic diet has been widely used and proved to be effective for intractable epilepsy. Although the mechanisms underlying its anti-epileptic effects remain to be proven, there are increasing experimental evidences for its neuroprotective effects along with many researches about expanding use of the diet in other neurologic disorders. The first success was reported in glucose transporter type 1 deficiency...

Human respiratory syncytial virus (HRSV) is a major cause of severe respiratory tract illnesses in infants and young children worldwide. Despite its importance as a respiratory pathogen, there is currently no licensed vaccine for HRSV. Following failure of the initial trial of formalin-inactivated virus particle vaccine, continuous efforts have been made for the development of safe and efficacious vaccines against...

Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the...

Symptomatic pulmonary arterial hypertension (PAH) in patients with isolated atrial septal defect (ASD) is rare during infancy. We report a case of isolated ASD with severe PAH in an infant who developed airway obstruction as cardiomegaly progressed. The patient presented with recurrent severe respiratory insufficiency and failure to thrive before the repair of the ASD. Echocardiography confirmed volume overload on...

Ménétrier's disease is a rare form of acquired gastropathy characterized by giant rugal folds in the stomach and protein-losing gastropathy. Children with Ménétrier's disease tend to follow a benign self-limited course with symptoms typically completely resolving within 2 to 10 weeks in contrast to the chronic course in adults. A 9-year-old girl presented with a history of gradually worsening abdominal...

Phytoestrogen is an estrogenic compound that occurs naturally in plants. The most common sources of phytoestrogen are soybean products, which contain high levels of isoflavones. This compound, which has structural similarity with estrogen, can act as an estrogen receptor agonist or antagonist. Animal studies provide evidence of the significant effects of phytoestrogen on sexual development, including altered pubertal timing, impaired...

Wheezing is one of the most frequent complaints that lead to the use of medical resources in younger children. Generally, wheezing is caused by bronchiolitis and resolves spontaneously without recurrence, but sometimes, wheezing can progress into asthma. Early data on the natural history of childhood wheezing was mostly obtained from retrospective reviews of medical records or from questionnaires, which made...

Takayasu arteritis is a chronic inflammatory disease of unknown etiology primarily affecting the aorta and its major branches and usually occurring in the second or third decade of life. Here, we report a case of Takayasu arteritis in a 10-month-old patient. The infant presented with signs of congestive heart failure and severe aortic regurgitation. Echocardiography and computed tomography angiography showed...

We report a case of a 13-year-old girl with acute lymphoblastic lymphoma-leukemia, who presented with a cardiac metastasis in the right ventricle, resulting in a pulmonary embolism. At the time of her leukemia diagnosis, a cardiac mass was incidentally found. The differential diagnosis for this unusual cardiac mass included cardiac tumor, metastasis, vegetation, and thrombus. Empirical treatment was initiated, including...