A 4-year-old girl with Panayiotopoulos syndrome presented with a history of 4 prolonged autonomic seizures. The clinical features of her seizures included, in order of occurrence, blank staring, pallor, vomiting, hemi-clonic movement on the right side, and unresponsiveness. A brain magnetic resonance imaging (MRI) showed a slightly high T₂ signal in the left hippocampus. Interictal electoencephalogram revealed spikes in the...

Carnitine (β-hydroxy-γ-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and the removal of potentially toxic acylcarnitine esters. Transient carnitine transport defect is a rare condition in newborns reported in 1/90,000 live births. In this paper, we describe a case of transient carnitine transport defect found in a premature baby who had prolonged cholestatic...

Mycoplasma pneumoniae (MP), the smallest self-replicating biological system, is a common cause of upper and lower respiratory tract infections, leading to a wide range of pulmonary and extra-pulmonary manifestations. MP pneumonia has been reported in 10 to 40% of cases of community-acquired pneumonia and shows an even higher proportion during epidemics. MP infection is endemic in larger communities of the...

Passive exposure to tobacco smoke significantly contributes to morbidity and mortality in children. Children, in particular, seem to be the most susceptible population to the harmful effects of environmental tobacco smoke (ETS). Paternal smoking inside the home leads to significant maternal and fetal exposure to ETS and may subsequently affect fetal health. ETS has been associated with adverse effects on...

PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE association in a premature infant showing facial, intracranial, and oropharyngeal hemangiomas with evidence of the Dandy-Walker variant and complicated cardiovascular anomalies, including a right-sided aortic arch and...

Partial anomalous pulmonary vein connection (PAPVC) is a rare congenital abnormal cardiac defect involving the pulmonary veins draining into the right atrium (RA) directly or indirectly by venous connection. Ninety percent of PAPVCs are accompanied by atrial septal defect (ASD). To our knowledge, there is no previous report of PAPVC with ventricular septal defect (VSD) without ASD in Korea, and...

Human puberty is a complex, coordinated biological process with multiple levels of regulations. The timing of puberty varies greatly in children and is influenced by both environmental and genetic factors. The key genes of pubertal onset, KISS1, GPR54, GNRH1 and GNRHR, may be major causal factors underlying gonadotropin-releasing hormone-dependent precocious puberty (GDPP). Two gain-of-function mutations in KISS1 and GPR54 have...

The need for evidence-based decision making in immunization programs has increased due to the presence of multiple health priorities, limited human resources, expensive vaccines, and limited funds. Countries should establish a group of national experts to advise their Ministries of Health. So far, many nations have formed their own National Immunization Technical Advisory Groups (NITAGs). In the Republic of Korea,...

Hypoglossal nerve palsy (HNP) is an uncommon neurological abnormality that can provoke characteristic clinical signs, including unilateral atrophy of the tongue musculature. We present the case of a healthy 11-year-old Korean male who was admitted to the outpatient department of our institution with acute onset dysarthria, tongue fasciculations, and right-sided tongue weakness upon awakening. His evaluation included a virology work-up,...

Congenital syphilis is one of the most well-known congenital infections, yet it remains a worldwide public health problem. Congenital syphilis can involve any organ system and present with various symptoms. However, early diagnosis of congenital syphilis is difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Here,...

Compared to the past decades, in recent decades, environmental and hygienic conditions in the Republic of Korea have improved along with socioeconomic developments, and the incidence of most infectious diseases, especially vaccine-preventable diseases, has greatly decreased due to active immunization with the developed level of health care. However, the incidence of some diseases has been increasing, and new diseases have...

In the current era of low-birth rate in Korea, it is important to improve our neonatal intensive care and to establish an integrative system including a regional care network adequate for both high-risk pregnancies and high-risk newborn infants. Therefore, official discussion for nation-wide augmentation, proper leveling, networking, and regionalization of neonatal and perinatal care is urgently needed. In this report,...

In order to care for an ill or injured child, it is crucial that every emergency department (ED) has a minimum set of personnel and resources because the majority of children are brought to the geographically nearest ED. In addition to adequate preparation for basic pediatric emergency care, a comprehensive, specialized healthcare system should be in place for a critically-ill...

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the...

Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the...

Neonatal mortality rate (NMR) or infant mortality rate (IMR) are the rate of deaths per 1,000 live births at which babies of either less than four weeks or of one year of age die, respectively. The NMR and IMR are commonly accepted as a measure of the general health and wellbeing of a population. Korea's NMR and IMR fell significantly...

An anthropometric survey is one of the most important approaches to use when evaluating the health status of children. Secular trends in body sizes, such as height, weight, head circumference, chest circumference, and body mass index showed significant changes over 40 years in Korea. A series of periodic surveys were conducted in 1967, 1975, 1985, 1997, and 2005 by the...

Although Korean population has been growing steadily during the past four decades, the nation is rapidly becoming an aging society because of its declining birth rate combined with an increasing life expectancy. In addition, Korea has one of the lowest fertility rates in the world due to fewer married couples, advanced maternal age, and falling birth rate. The prevalence of...

Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level...

Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disease of the central nervous system that typically follows an infection or vaccination and has a favorable long-term prognosis. We describe the first reported case of ADEM after vaccination against novel influenza A (H1N1). A previously healthy 34-month-old boy who developed ADEM presented with a seizure and left-sided weakness 5 days after...