Iron deficiency affects approximately one-third of the world's population, occurring most frequently in children aged 6 months to 3 years. Mechanisms of iron absorption are similar to those of other divalent metals, particularly manganese, lead, and cadmium, and a diet deficient in iron can lead to excess absorption of manganese, lead, and cadmium. Iron deficiency may lead to cognitive impairments...

Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping is often a critical means of establishing a diagnosis. Current advances in the field of IBMFSs have identified multiple genes associated with IBMFSs...

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The...

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although...

Benign convulsion with mild gastroenteritis (CwG) is a type of afebrile seizure that occurs in children. CwG is defined as a convulsion in a previously healthy child with no known central nervous system infection or encephalopathy, accompanying mild diarrhea without fever, electrolyte imbalance, or moderate to severe dehydration. Convulsions in CwG are characterized by multiple brief episodes of generalized or...

Transcatheter closure of atrial septal defects has become a popular procedure. The availability of a preprocedural imaging study is crucial for a safe and successful closure. Both the anatomy and morphology of the defect should be precisely evaluated before the procedure. Three-dimensional (3D) echocardiography and cardiac computed tomography are helpful for understanding the morphology of a defect, which is important...

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently...

Moyamoya disease is a cerebrovascular condition that results in the narrowing of the vessels of the circle of Willis and collateral vessel formation at the base of the brain. Although relationships between Graves' disease and cerebrovascular accidents in Moyamoya disease are obscure, the coexistence of the two diseases is noteworthy. Moyamoya disease has been rarely reported in adolescent patients with...

The incidence of people living with congenital heart disease (CHD) has been increasing every year owing to remarkable advances in surgical and catheter intervention techniques and devices, and improved knowledge of critical care for patients with CHD. However, these patients continue to face physical, psychosocial, and environmental challenges, and a number of studies have shown higher rates of depression and...

Severe intraventricular hemorrhaging (IVH) in premature infants and subsequent posthemorrhagic hydrocephalus (PHH) causes significant mortality and life-long neurological complications, including seizures, cerebral palsy, and developmental retardation. However, there are currently no effective therapies for neonatal IVH. The pathogenesis of PHH has been mainly explained by inflammation within the subarachnoid spaces due to the hemolysis of extravasated blood after IVH. Obliterative...

Gastrointestinal (GI) hemangiomas are relatively rare benign vascular tumors. The choice of an appropriate diagnostic method depends on patient age, anatomic location, and presenting symptoms. However, GI hemangiomas are not a common suspected cause of GI bleeding in children because of their rarity. Based on medical history, laboratory results, and imaging study findings, the patient could be treated with either...

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly...

Asthma comprises a heterogeneous group of disorders characterized by airway inflammation, airway obstruction, and airway hyperresponsiveness (AHR). Airway inflammation, which induces AHR and recurrence of asthma, is the main pathophysiology of asthma. The fractional exhaled nitric oxide (FeNO) level is a noninvasive, reproducible measurement of eosinophilic airway inflammation that is easy to perform in young children. As airway inflammation precedes...

Atopic sensitization is a complex phenomenon that changes dynamically with age throughout childhood; its prevalence increases with age in young children. Additionally, with increasing age, the prevalence of sensitization to inhalant allergens and the prevalence of polysensitization to allergens increase. It is also well established that the development of atopic sensitization is the result of a complex interplay of genetic...

Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS), a very rare disease that is caused by the presence of antifactor II antibodies, is usually counterbalanced by the prothrombotic effect of lupus anticoagulant (LAC). Patients with LAHPS are treated using fresh frozen plasma, steroids, immunosuppressive agents, and immunoglobulins for managing the disease and controlling hemorrhages. Notably, steroids are the important treatment for treating hypoprothrombinemia and...

Iatrogenic pseudoaneurysms are extremely rare in children. Conventional management of pseudoaneurysms in adults has included surgical repair, ultrasound-guided compression, and more recently, endovascular embolization. However, in infants and children, there is little information regarding the applicability of such treatment modalities, which have been effective in adults, because of its rarity. Here, we present the case of a 6-month-old infant who...