A case of esophagitis and mediastinitis developed in an infant with an esophageal duplication cyst

An esophageal duplication cyst (EDC) is a congenital anomaly of the foregut. EDCs are often asymptomatic, so they are found incidentally on chest radiographs. In symptomatic patients, EDCs present with cough, dyspnea, vomiting, dysphagia, and chest pain. Potential complications of EDCs include perforation, obstruction, bleeding, and infection. The rarity of this condition may hinder timely diagnosis, which may lead to life-threatening complications. This article describes a case of esophagitis and mediastinitis developed in a 12-month-old infant with an EDC. We emphasize that although rare, EDCs should be considered in the differential diagnosis of non-specific respiratory signs such as cough, dyspnea, and stridor.

Intravenous cidofovir as an adjuvant therapy for recurrent upper airway papillomatosis with lung involvement in a child

Recurrent respiratory papillomatosis (RRP) is a chronic disease related to human papillomavirus infection. The standard treatment of RRP is surgical resection of the lesion, but due to frequent recurrence, a combination of various adjuvant therapies has been attempted. Herein, we present the first case of RRP to whom intravenous cidofovir was administered as an adjuvant therapy in Korea. A 9-year-old boy was admitted due to hoarseness, stridor and breathing difficulty. At 10 months of age, he was diagnosed with RRP in the upper airway and thereafter he had repeatedly undergone surgical removal. During this hospitalization, papilloma was found again from the superior glottis to the inferior glottis and surrounding the trachea at the age of 9 years. In addition, well-defined nodular lesions were newly found on both lung fields, and a pathologic examination revealed a squamous papilloma with highgrade dysplasia, human papilloma virus types 6, 11, and 40 (low-risk type). Because of the frequent recurrence of papilloma in the upper airway as well as lung involvement, he underwent 38 injections of intravenous cidofovir for 2 years. During treatment, the intervals required for surgical removal of the mass causing upper airway obstruction were prolonged from an average of 37.3 to 74.6 days without serious side effects. However, intravenous cidofovir treatment had no effect on the lung lesion. This case shows that an intravenous cidofovir administration can be used as an adjuvant therapy in a child with RRP to relieve the upper airway obstruction, although this treatment does not cure the disease.

Comparison of Clinical and Radiologic Findings Between Perforated and Non-Perforated Choledochal Cysts in Children

Objective@#To compare the clinical and radiologic findings between perforated and non-perforated choledochal cysts in children. @*Materials and Methods@#Fourteen patients (mean age ± standard deviation, 1.7 ± 1.2 years) with perforated choledochal cysts (perforated group) and 204 patients (3.6 ± 3.8 years) with non-perforated choledochal cysts (non-perforated group) were included between 2000 and 2019. All patients underwent choledochal cyst excision after ultrasound, CT, or MR cholangiopancreatography. Relevant data including demographics, clinical symptoms, laboratory findings, imaging findings, and outcomes were analyzed. Statistical differences were compared using the Mann-Whitney U test and Fisher’s exact test. @*Results@#Choledochal cyst perforation occurred only in children under the age of 4 years. Acute symptoms, including fever (p < 0.001), were more common in the perforated group than in the non-perforated group. High levels of white blood cells (p = 0.004), C-reactive protein (p < 0.001), and serum amylase (p = 0.002), and low levels of albumin (p < 0.001) were significantly associated with the perforated group. All 14 patients with perforated choledochal cysts had ascites, whereas only 16% (33/204) of patients in the non-perforated group had ascites (p < 0.001). In the subgroup of patients who had ascites, a large amount of ascites (p = 0.001), increase in the amount of ascites in a short time (p < 0.001), complex ascites (p < 0.001), and perihepatic pseudocysts (p < 0.001) were more common in the perforated group than in the non-perforated group. @*Conclusion@#Children with perforated choledochal cysts have characteristic clinical and radiologic findings compared to those with non-perforated choledochal cysts. In young children with choledochal cysts, perforation should be differentiated in cases with acute symptoms, laboratory abnormalities, and characteristic ascites findings.

A case of food-induced acute pancreatitis in a child with egg white allergy

Acute pancreatitis (AP) rarely occurs in association with food allergy (FA), and the mechanism is not clearly explored. We herein report a rare case of egg protein-induced AP. A 5-year-old girl was brought to the hospital because of tongue pruritus and an increased level of egg white-specific immunoglobulin E. During an oral food challenge, she developed hives, abdominal pain and vomiting after ingestion of a cumulative of 610 mg of boiled egg white (70 mg of protein). After management with intramuscular injection of epinephrine and orally administered prednisolone and levocetirizine, her skin symptoms improved. The next day, blood tests showed elevated levels of amylase and lipase, and computed tomography revealed a swollen pancreas with a low-attenuated necrotic portion. She was diagnosed with AP and treated with food restriction, intravenous methylprednisolone and gabexate mesilate. The serum levels of amylase and lipase were reduced to normal levels on day 5 and her symptoms completely resolved on day 10. A suspicion of food-induced AP is required for correct diagnosis and proper management in children with FA when they manifest severe abdominal pain.

A Case with Multiple Fungal Coinfections in a Patient who Presented with Pancoast Syndrome

Invasive fungal infection (IFI) is a serious threat to pediatric patients with cancer given high morbidity and mortality. We present an 18-year-old male with precursor T-cell lymphoblastic leukemia who developed Pancoast syndrome, presented with paresthesia and numbness in the right shoulder and arm during a neutropenic fever period. He was diagnosed with pneumonia in the right upper lung field. He was later found to have an invasive pulmonary fungal infection caused by multiple fungi species, including Rhizomucor, confirmed by histology and polymerase chain reaction (PCR) (proven infection), Penicillium decumbens diagnosed by PCR, and Aspergillus suspected from galactomannan assay (probable infection). Unfortunately, the patient's condition further worsened owing to the aggravation of leukemia, chemotherapy-induced neutropenia, and bacterial coinfection, leading to multiorgan failure and death. Here, we report a case of IFI caused by multiple fungal species that presented as Pancoast syndrome.

A Case with Multiple Fungal Coinfections in a Patient who Presented with Pancoast Syndrome

Invasive fungal infection (IFI) is a serious threat to pediatric patients with cancer given high morbidity and mortality. We present an 18-year-old male with precursor T-cell lymphoblastic leukemia who developed Pancoast syndrome, presented with paresthesia and numbness in the right shoulder and arm during a neutropenic fever period. He was diagnosed with pneumonia in the right upper lung field. He was later found to have an invasive pulmonary fungal infection caused by multiple fungi species, including Rhizomucor, confirmed by histology and polymerase chain reaction (PCR) (proven infection), Penicillium decumbens diagnosed by PCR, and Aspergillus suspected from galactomannan assay (probable infection). Unfortunately, the patient's condition further worsened owing to the aggravation of leukemia, chemotherapy-induced neutropenia, and bacterial coinfection, leading to multiorgan failure and death. Here, we report a case of IFI caused by multiple fungal species that presented as Pancoast syndrome.

Lymphomatoid Granulomatosis Involving the Lung and Brain in a Child: A Case Report

Lymphomatoid granulomatosis (LG) is a rare B-cell type angiocentric lymphoproliferative disease that can progress to extranodal lymphoma with high mortality. It most commonly affects the lungs, although extrapulmonary systems, including the brain and skin, can also be involved. LG in pediatric patients has been very rarely reported in the literature with limited imaging features. Herein, we report a pediatric case of LG involving the lung and brain with characteristic imaging findings.

Botryoid Wilms Tumor in a Neonate Presenting with Fetal Hydronephrosis: A Case Report

Botryoid Wilms tumor, a very rare variant of Wilms tumor, arises from the pelvocalyceal system, and its occurrence in the fetal or neonatal period has never been reported in the literature. Herein, we report an exceedingly rare and challenging case of botryoid Wilms tumor in a neonate who initially presented with fetal hydronephrosis. Postnatal ultrasonography revealed multiple lobulating hypoechoic masses with varying degrees of intralesional vascularity within the dilated pelvocalyceal system. To our knowedge, this is a case report of botryoid Wilms tumor of the youngest child in English literature.

Diagnostic Imaging for Physical Abuse in Children

Physical abuse is a significant cause of morbidity and mortality in the pediatric population. Young children, particularly in the first year of life, are most vulnerable to physical abuse. To evaluate suspected physical abuse, radiologists play a vital role by detecting radiological findings suggestive of physical abuse and differentiating them from other pathologies. This review focuses on radiologic findings, including those for fractures, abusive head trauma, spinal injury, and thoracoabdominal injury, commonly discovered in physically abused children, with special emphasis on biomechanical forces that produce injuries.

Ultrasonography of Pediatric Superficial Soft Tissue Tumors and Tumor-Like Lesions

Ultrasonography (US) is usually the first imaging examination performed to evaluate palpable or visible superficial soft tissue lesions that are common in children. Although clinical assessments, such as age at presentation, clinical course, and overlying skin discoloration, are important for the differentiation of pediatric soft tissue lesions, US allows a specific diagnosis of some typical benign lesions and helps in guiding further investigation since it provides detailed information about the lesion location, characterization including solid versus cystic, vascularity, and compressibility. Therefore, sufficient knowledge of the normal anatomy, proper ultrasonographic techniques, and the imaging findings of common and uncommon soft tissue lesions in children are crucial for accurate assessment and management of patients. In this article, we review the techniques and imaging findings focusing on the ultrasonographic features of a variety of superficial soft tissue lesions detected in children.

A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.

A contact investigation after exposure to a child with disseminated tuberculosis mimicking inflammatory bowel disease / 소아과

PURPOSE: Tuberculosis (TB) is one of the most important diseases that cause significant mortality and morbidity in young children. Data on TB transmission from an infected child are limited. Herein, we report a case of disseminated TB in a child and conducted a contact investigation among exposed individuals. METHODS: A 4-year-old child without Bacille Calmette-Guérin vaccination was diagnosed as having culture-proven disseminated TB. The child initially presented with symptoms of inflammatory bowel disease, and nosocomial and kindergarten exposures were reported. The exposed individuals to the index case were divided into 3 groups, namely household, nosocomial, or kindergarten contacts. Evaluation was performed following the Korean guidelines for TB. Kindergarten contacts were further divided into close or casual contacts. Chest radiography and tuberculin skin test or interferon-gamma-releasing assay were performed for the contacts. RESULTS: We examined 327 individuals (3 household, 10 nosocomial, and 314 kindergarten contacts), of whom 18 (5.5%), the brother of the index patient, and 17 kindergarten children were diagnosed as having latent TB infection (LTBI). LTBI diagnosis was more frequent in the children who had close kindergarten contact with the index case (17.1% vs. 4.4%, P=0.007). None of the cases had active TB. CONCLUSION: This is the first reported case of TB transmission among young children from a pediatric patient with disseminated TB in Korea. TB should be emphasized as a possible cause of chronic diarrhea and failure to thrive in children. A national TB control policy has been actively applied to identify Korean children with LTBI.

Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI

OBJECTIVE: To evaluate the value of repeat brain magnetic resonance imaging (MRI) in identifying potential epileptogenic lesions in children with initial MRI-negative focal epilepsy. MATERIALS AND METHODS: Our Institutional Review Board approved this retrospective study and waived the requirement for informed consent. During a 15-year period, 257 children (148 boys and 109 girls) with initial MRI-negative focal epilepsy were included. After re-evaluating both initial and repeat MRIs, positive results at repeat MRI were classified into potential epileptogenic lesions (malformation of cortical development and hippocampal sclerosis) and other abnormalities. Contributing factors for improved lesion conspicuity of the initially overlooked potential epileptogenic lesions were analyzed and classified into lesion factors and imaging factors. RESULTS: Repeat MRI was positive in 21% (55/257) and negative in 79% cases (202/257). Of the positive results, potential epileptogenic lesions comprised 49% (27/55) and other abnormalities comprised 11% of the cases (28/257). Potential epileptogenic lesions included focal cortical dysplasia (n = 11), hippocampal sclerosis (n = 10), polymicrogyria (n = 2), heterotopic gray matter (n = 2), microlissencephaly (n = 1), and cortical tumor (n = 1). Of these, seven patients underwent surgical resection. Contributing factors for new diagnoses were classified as imaging factors alone (n = 6), lesion factors alone (n = 2), both (n = 18), and neither (n = 1). CONCLUSION: Repeat MRI revealed positive results in 21% of the children with initial MRI-negative focal epilepsy, with 50% of the positive results considered as potential epileptogenic lesions. Enhanced MRI techniques or considering the chronological changes of lesions on MRI may improve the diagnostic yield for identification of potential epileptogenic lesions on repeat MRI.

Acute Necrotizing Pancreatitis Associated with Mycoplasma pneumoniae Infection in a Child / 대한소아소화기영양학회지

Mycoplasma pneumoniae is responsible for approximately 20% to 30% of community-acquired pneumonia, and is well known for its diverse extrapulmonary manifestations. However, acute necrotizing pancreatits is an extremely rare extrapulmonary manifestation of M. pneumoniae infection. A 6-year-old girl was admitted due to abdominal pain, vomiting, fever, and confused mentality. Acute necrotizing pancreatitis was diagnosed according to symptoms, laboratory test results, and abdominal computed tomography scans. M. pneumoniae infection was diagnosed by a 4-fold increase in antibodies to M. pneumoniae between acute and convalescent sera by particle agglutination antibody assay. No other etiologic factors or pathogens were detected. Despite the occurrence of a large infected pseudocyst during the course, the patient was able to discharge without morbidity by early aggressive supportive care. This is the first case in Korea of a child with acute necrotizing pancreatitis associated with M. pneumoniae infection.

Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA / 소아과

This erratum is being published to correct of page 435 and Table 4.

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA / 소아과

PURPOSE: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. METHODS: MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. RESULTS: Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. CONCLUSION: An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.

Diffusion and Perfusion Characteristics of MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episode) in Thirteen Patients

OBJECTIVE: We analyzed the diffusion and perfusion characteristics of acute MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) lesions in a large series to investigate the controversial changes of the apparent diffusion coefficient (ADC) that were reported in prior studies. MATERIALS AND METHODS: We analyzed 44 newly appearing lesions during 28 stroke-like episodes in 13 patients with MELAS. We performed a visual assessment of the MR images including the ADC and perfusion maps, comparison of the ADC between the normal and abnormal areas, comparison of % ADC between the 44 MELAS lesions and the 30 acute ischemic infarcts. In addition, the patterns of evolution on follow-up MR images were analyzed. RESULTS: Decreased, increased, and normal ADCs were noted in 16 (36%), 16 (36%), and 12 (27%) lesions, respectively. The mean % ADC was 102 +/- 40.9% in the MELAS and 64 +/- 17.8% in the acute vascular infarcts (p < 0.001), while perfusion imaging demonstrated hyper-perfusion in six acute MELAS lesions. On follow-up images, resolution, progression, and tissue loss were noted in 10, 4, and 17 lesions, respectively. CONCLUSION: The cytotoxic edema gradually evolves following an acute stroke-like episode in patients with MELAS, and this may overlap with hyper-perfusion and vasogenic edema. The edematous swelling may be reversible or it may evolve to encephalomalacia, suggesting irreversible damage.

Erratum

No abstract available.

Prevalence of Unruptured Intracranial Aneurysm on MR Angiography

OBJECTIVE: To evaluate the prevalence of incidentally found unruptured intracranial aneurysms (UIAs) on the brain MR angiography (MRA) from a community-based general hospital. MATERIALS AND METHODS: This was a prospectively collected retrospective study, carried out from January 2004 to December 2004. The subjects included 3049 persons from a community-based hospital in whom MRA was performed according to a standardized protocol in an outpatient setting. Age- and sex-specific prevalence of UIAs was calculated. The results by MRA were compared with intra-arterial digital subtraction angiography (DSA) findings. RESULTS: Unruptured intracranial aneurysms were found in 137 (5%) of the 3049 patients (M:F = 43:94; mean age, 60.2 years). The prevalence of UIAs was 5% (n = 94) in women and 4% (n = 43) in men, respectively (p = 0.2046) and showed no age-related increase. The most common site of aneurysm was at the distal internal carotid artery (n = 64, 39%), followed by the middle cerebral artery (n = 40, 24%). In total, 99% of aneurysms measured less than 12 mm, and 93% of aneurysms measured less than 7 mm. Direct comparisons between MRA and DSA were available in 70 patients with 83 UIAs; the results revealed two false positive and two false negative results. CONCLUSION: This community-hospital based study suggested a higher prevalence of UIAs observed by MRA than previously reported. These findings should be anticipated in the design and use of neuroimaging in clinical practice.

Hypointense Hepatic Lesions Depicted on Gadobenate Dimeglumine-Enhanced Three-Hour Delayed Hepatobiliary-Phase MR Imaging: Differentiation between Benignancy and Malignancy

Gadobenate dimeglumine-enhanced magnetic resonance (MR) imaging simultaneously provides both morphological and functional information by the acquisition of dynamic and hepatobiliary-phase imaging. Focal lesions with no functioning hepatocytes, where hepatobiliary metabolism is blocked or inhibited, are generally unable to uptake and excrete gadobenate dimeglumine into the bile. Such lesions are typically malignant and usually appear hypointense as compared to the normal liver parenchyma as seen on hepatobiliary-phase imaging. However, various benign hepatic lesions may also be hypointense due to (a) the presence of no functioning hepatocytes, (b) damage to the functioning hepatocytes or (c) impairment of biliary function as depicted on hepatobiliary-phase imaging. All of these imaging features may result in recognition of the benign hepatic lesions as hepatic malignancies. As depicted on three-hour delayed hepatobiliary-phase imaging, peripheral iso/hyperintensity due to fibrotic tissue compared to the hypointense center with a fuzzy margin may be a clue for the presence of a benign hepatic lesion. In contrast, peripheral hypointensity due to rich tumoral cellularity compared to the center with a clear margin may favor an indication of the presence of a malignant hepatic lesion.