Hepatic glycogenosis in type 1 diabetes mellitus (DM) can be caused by poor glycemic control due to insulin deficiency, excessive insulin treatment for diabetic ketoacidosis, or excessive glucose administration to control hypoglycemia. Mauriac syndrome, which is characterized by hepatomegaly due to hepatic glycogenosis, growth retardation, delayed puberty, and Cushingoid features, is a rare diabetic complication. We report a case of...

Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a...

Severe aplastic anemia (SAA) is a life-threatening disorder for which allogeneic hematopoietic stem cell transplantation (HSCT) is the current available curative treatment. HSCT from matched sibling donors (MSDs) is the preferred therapy for children with acquired SAA. For patients who lack MSDs, immunosuppressive therapy (IST) is widely accepted as a first-line treatment before considering HCT from an unrelated donor (URD)....

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing symmetric sensorimotor disorder presumed to occur because of immunologic antibody-mediated reactions. To understand the clinical courses of CIDP, we report variable CIDP courses in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval. Four patients who were diagnosed with acute-onset and relapsing CIDP courses at...

Allergic bronchopulmonary aspergillosis (ABPA) is a hypersensitivity lung disease due to bronchial colonization of Aspergillus fumigatus that occurs in susceptible patients with asthma or cystic fibrosis. A 10-year-old girl was referred to the Department of Pediatric Pulmonology for persistent consolidations on chest radiography. Pulmonary consolidations were observed in the right upper and left lower lobes and were not resolved with...

Most guidelines for chronic urticaria (CU) in infants and children are based on limited pediatric evidence. Current evidence used to guide treatment in children is extrapolated from data focusing on older age groups. CU in children is a different and complex condition than that in adults. Furthermore, there is little published information regarding urticaria in Korean children. The aim of...

Plastibell is one of the three most common devices used for neonatal circumcision in the United States, with a complication rate as low as 1.8%. The Plastibell circumcision device is commonly used under local anesthesia for religious circumcision in male neonates, because of cosmetic reasons and ease of use. Occasionally, instead of falling off, the device may get buried under...

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the...

Osteosarcoma is the most frequent primary bone tumor. Advances in combination chemotherapy and surgical technique have greatly improved the survival of patients with osteosarcoma. In Korea, improvements in osteosarcoma treatment have been made over the past two decades. The 5-year event-free survival rate of Korean children and adolescents with localized disease is 64.6%, comparable to that of American or European...

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of...

Hand, foot, and mouth disease (HFMD) is an acute, mostly self-limiting infection. Patients usually recover without any sequelae. However, a few cases are life threatening, especially those caused by enterovirus 71 (EV71). A 12-month-old boy was admitted to a primary hospital with high fever and vesicular lesions of the mouth, hands, and feet. After 3 days, he experienced 3 seizure...

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing...

Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects children, and can result in coronary artery lesions (CAL). A patient with KD who is resistant to treatment with intravenous immunoglobulin (IVIG) has a higher risk of developing CAL. Incomplete KD has increased in prevalence in recent years, and is another risk factor for the development of CAL. Although...

Relative to a fetus of the same gestational age, very low birth weight (VLBW) infants are more likely to be underfed and to undergo growth restriction during their early hospital stay. The current trend towards "early and aggressive" nutritional strategies in VLBW infants aims to overcome the early nutritional deficiency and thereby boost postnatal catch-up growth, simultaneously improving long-term neurodevelopmental...

Isolated sphenoid sinusitis is a rare disease in children, and its symptoms are often nonspecific and confusing. Rarely, severe headache can be the first or only symptom of isolated sphenoid sinusitis. New daily persistent headache (NDPH) is a form of chronic daily headache that may have features of both migraines and tension-type headaches. NDPH is difficult to diagnose and requires...