Imaging Diagnosis for Intradiaphragmatic Pulmonary Sequestration: A Pilot Study.

OBJECTIVES: Extrapulmonary sequestration (EPS) within the diaphragm (ID-EPS) is rare and requires additional procedures such as incision or detachment of the diaphragm from the lesion for diagnosis. This study aimed to describe the imaging findings and evaluate the diagnostic accuracy of ultrasonography and computed tomography (CT) for ID-EPS. MATERIAL AND METHODS: Split diaphragm sign, shape of lesion edge, drainage vein into intra-abdomen on ultrasound and CT, and lesion characteristics on ultrasound were compared between patients with ID-EPS and with above-diaphragm EPS (AD-EPS) using Fisher's exact test. RESULTS: Three and nine patients were diagnosed with ID-EPS and AD-EPS, respectively. Significant differences were observed between the two groups in the split diaphragm sign on ultrasound (presence/absence in patients with ID-EPS vs AD-EPS, 2/1 vs 0/9, P = .046), shape of lesion edge on ultrasound/CT (round/beak in patients with ID-EPS vs AD-EPS, 3/0 vs 0/9, P = .005 on both CT and ultrasound), lesion characteristics on ultrasound (presence/absence of cystic area within lesion in patients with ID-EPS vs AD-EPS, 0/3 vs 7/2, P = .046), and the drainage vein into the abdomen on CT (presence/absence in patients with ID-EPS vs AD-EPS; 2/1 vs 0/9, P = .046). No drainage veins were visualized in the abdomen on ultrasonography and no significant differences in the presence/absence of the split-diagram sign on CT (presence/absence in patients with ID-EPS vs AD-EPS and ID-EPS; 0/3 vs 0/9, P > .999; 1/2 vs 0/9, P = .250) were observed between the two groups. CONCLUSION: A combination of postnatal ultrasonography and CT was useful in predicting EPS located within the diaphragm.

Early chemotherapeutic intervention to avoid thyroidectomy in pediatric Langerhans cell histiocytosis with thyroid involvement accompanying tracheal stenosis: a report of two cases.

Thyroid involvement is rare in pediatric Langerhans cell histiocytosis (LCH). It may cause airway narrowing, leading to acute-onset respiratory distress. Severe cases may require emergent surgical interventions such as thyroidectomy, which should be avoided in children due to higher rates of complication, particularly in infancy. There is currently no consensus on the indications for surgical treatment in LCH with thyroid involvement. In this report, we describe the cases of two children who presented with tracheal stenosis caused by thyroid LCH, both of which were successfully treated by early induction of chemotherapy, and one of which was also treated for a shorter duration. Mutation analysis detected in-frame deletions of BRAF exon 12 in both cases. These cases suggest that timely diagnosis and administration of chemotherapy may alleviate severe airway obstruction and reduce the need for thyroidectomy in pediatric patients with thyroid LCH.

Assessing the Usefulness of Ultrasonography for the Diagnosis and Evaluation of Intra-Orbital Lesions in Pediatric Patients: A Retrospective Analysis.

OBJECTIVES: To assess the usefulness of ultrasonography in the diagnosis and evaluation of extraocular intra-orbital lesions in pediatric patients. METHODS: Twenty-three pediatric patients with intra-orbital lesions who underwent both ultrasound and computed tomography/magnetic resonance imaging (CT/MRI) were included. The following parameters were evaluated using ultrasound: 1) lesion detection rate (presence or absence of lesions), 2) lesion characteristics, 3) lesion location (extraconal or intraconal), and 4) the lesion longest linear dimensions, and these were compared using Fisher's exact test and Mann-Whitney U test. RESULTS: Two lesions could not be detected using ultrasound; in the other 21 cases, the lesion characteristics diagnosed by ultrasound were correct. Diagnostic accuracy of detection and characteristics assessment using ultrasound were 91.3% and 91.3%, respectively. The lesion location was not significantly different between the two groups (intraconal/extraconal in those detected using ultrasound versus those in the absence on ultrasound = 7/14 versus 0/2, P > .999); however, in two cases that were not detected on ultrasound, the lesions were located at extraconal. Lesions that were small in longest linear dimensions on CT/MRI were not detected using ultrasound (the longest linear dimensions in lesions detected using ultrasound versus that in the absence of ultrasound: 29.5 ± 8.2 [range, 13-46] versus 10 and 11 mm, P = .043). CONCLUSIONS: Ultrasonography proved to be useful for visualizing and evaluating intra-orbital lesions except for lesions that were relatively small in size. Therefore, although ultrasound could not detect lesions located behind bone and bone invasion, it could be used for diagnosing and selecting treatment strategies for intra-orbital lesions.

Sonographic Findings of Cervical Chondrocutaneous Branchial Remnants-A Comparison With Dermal Lesions/Cysts and a Literature Review: A Pilot Study.

OBJECTIVES: Cervical chondrocutaneous branchial remnants (CCBRs) and dermal lesions, such as epidermoid cysts or brachial anomalies, including lateral cervical cysts/sinuses or dermal sinuses of anterior chest lesions, are usually located at the lower neck at the anterior or posterior border of the sternocleidomastoid muscle (SCM). We aimed to demonstrate the usefulness of ultrasonography in the differential diagnosis and evaluation of CCBRs. METHODS: We evaluated 22 lesions of 20 pediatric patients, classified into CCBR and dermal lesion groups. We used Fisher's exact test to evaluate differences between these groups in terms of lesion shape (low-echoic mass- or tubular-like), whether the lesion was adjacent to/in contact with the SCM or not, and the presence or absence of a concave SCM caused by the lesion. RESULTS: Of the 22 lesions, 8 were CCBRs, and 14 were dermal lesions. We found a significant difference in the presence/absence of adjacency to or contact with the SCM (presence/absence of adjacency to or contact with the SCM in CCBRs vs that in dermal lesions: 6/2 vs 1/13, P = .002) and presence/absence of lesion-induced concavity of the SCM (presence/absence of lesion-induced concavity of the SCM in CCBRs vs that in dermal lesions: 3/5 vs 0/14, P = .036). The lesion shape (low-echoic mass-like/tubular-like lesions) did not significantly differ between the two study groups (low-echoic mass-like/tubular-like lesions in CCBRs vs that in dermal lesions: 5/3 vs 11/6, P = .624). CONCLUSIONS: CCBRs have a strong association with the SCM. These sonographic findings may be useful in the differential diagnosis of dermal cervical lesions.

A single-center experience of using milk scintigraphy in 251 pediatric patients: A retrospective study.

To report our experience with milk gastroesophageal scintigraphy and the management of gastroesophageal reflux (GER) in children. In 251 pediatric patients we recorded age, underlying disease, central nervous system (CNS) disorders, and GER management. GER management was classified based on treatment plans: grade 0, non-pharmacological treatment; grade 1, non-pharmacological but using a nasogastric tube; grade 2, pharmacological treatment; grade 3, transpyloric feeding; and grade 4, Nissen fundoplication surgery. Patients were included in classified groups with (grades 2, 3, and 4) and without (grades 0 and 1) GER treatment. We evaluated the GER height (classified based on the height of GER, grade 0; no GER, 1; GER in the lower esophagus, 2; GER in the upper esophagus), GER duration in the lower and upper esophagus, presence or absence of massive GER amounts in the lower and upper esophagus, and gastric emptying time. We compared milk scintigraphy results and patient characteristics between groups with (grades 2, 3, and 4) and without (grades 0 and 1) GER treatment. We treated 121 patients for GER. CNS disorders (presence/absence: 46/74 with vs 21/110 without treatment, P < .001). The GER height grade (1.7 ±â€…0.5 [range, 0-2] with vs 1.5 ±â€…0.7 [range, 0-2] without treatment, P = .002), massive GER amount (present/absent: 21/99 with vs 9/122 without treatment, P = .011), and duration of GER (seconds) (324.5 ±â€…508.3 [range, 0-1800] vs 125.0 ±â€…291.9 [range, 0-1750], P < .001) in the upper esophageal half differed significantly. Similarly massive GER amount (present/absent: 54/66 with vs 34/97 without treatment, P = .002) and GER duration (621.3 ±â€…601.0 [range, 0-1800] vs 349.8 ±â€…452.4 [range, 0-1800], P < .001) in the lower esophageal half differed significantly. Additionally, CNS disorders, age, and massive GER in the upper esophageal half differed significantly among grades 2 and 4 in treated patients (P < .05, P < .001, P < .05, respectively). Milk scintigraphy is useful for deciding whether GER treatment is indicated. However, the treatment plan needs to be decided based on each patient's condition.

Useful sonographic findings for diagnosing dermal metastases of rhabdomyosarcoma.

Rhabdomyosarcoma developing in deep locations, such as the genitourinary tract, and perianal and perineal regions, symptoms may be obscure. Dermal rhabdomyosarcoma metastases may be first symptom of that and those arise in the subcutaneous fat tissue, presenting as a high echoic area surrounded by a low echoic area, accompanied by a high echoic peripheral area. These sonographic findings might indicate an aggressive malignant disease, and that would be useful to differentiate from other dermal lesions.

Association between the dynamic movement of hyperechoic foci and patients'/sonographic outcomes among pediatric patients with portal venous gas following a cardiac event.

OBJECTIVES: To demonstrate the association between the dynamic movements of hyperechoic foci in portal venous gas (PVG) and patients'/sonographic outcomes after congenital heart disease or cardiac events. METHODS: Thirty-one pediatric patients requiring management of congenital heart diseases or cardiac events who had PVG on ultrasound were included in this retrospective study. The patient outcome was prognosis: dead or alive. The sonographic outcome was recovery from PVG, measured as days from PVG detection to when it diminished on ultrasound. The following sonographic findings of hyperechoic foci in PVG were compared between patients: detection within the mesenteric vein, having to-and-fro movements within the intrahepatic portal vein, distribution (left segment or both left and right segments) and shape (line or punctate) in the liver, and detection within the portal and hepatic veins. Comparisons were made using Fisher's exact/Mann-Whitney U test. RESULTS: Four patients died without having recovered from PVG. A significant difference was observed in terms of the to-and-fro movement (with/without to-and-fro movement in dead vs. alive patients: 3/1 vs. 1/26, respectively; P = 0.003). Furthermore, a significant difference in sonographic outcomes was observed regarding patients with/without hyperechoic foci within the mesenteric vein (days with vs. without this finding: 2.0 ± 1.24(1-5) vs.1 ± 0(1), respectively; P = 0.011). CONCLUSIONS: In our small limited cohort, when PVG was visualized on ultrasound, close evaluation of the dynamic movement of hyperechoic foci, especially their to-and-fro movement within the intrahepatic portal vein and detection of hyperechoic foci within the mesenteric vein, were useful in predicting patients' outcomes and the time to PVG diminishment.

Incidence of renal scarring on technetium-99 m dimercaptosuccinic acid renal scintigraphy after acute pyelonephritis, acute focal bacterial nephritis, and renal abscess.

OBJECTIVE: To evaluate the association between the incidence of renal scarring on technetium-99 m dimercaptosuccinic acid (DMSA) renal scintigraphy and the severity of renal parenchymal infections, such as acute pyelonephritis (APN), acute focal bacterial nephritis (AFBN), and renal abscess, based on computed tomography (CT) diagnosis. METHODS: Sixty-one children with renal parenchymal infections were included and classified into two groups: those with (renal scarring group) and without renal scarring (non-renal scarring group) on chronic-phase DMSA renal scintigraphy. The severity of renal parenchymal infection was classified into three grades using CT: APN, AFBN, and renal abscess as grades 1, 2, and 3, respectively. The severity of renal parenchymal infection, vesicoureteral reflux (VUR) grade, and intrarenal reflux occurrence during voiding cystourethrography (VCUG) were evaluated between the renal and non-renal scarring groups. Fisher's exact test and Mann-Whitney U test were used for statistical analysis. RESULTS: Renal scars were detected in 28 (45.9%) of the 61 patients. We found that 2/9 (22.2%), 18/41 (43.9%), and 8/11 (72.7%) patients with APN (grade 1), AFBN (grade 2), and renal abscess (grade 3) had renal scarring, respectively. There was a significant difference in the grade of severity of renal parenchymal infection between the renal (median = 2 [interquartile range, 2-3]) and non-renal (median = 2 [interquartile range, 2-2]) scarring groups (p = 0.023). There was a significant difference in the grade of VUR between the renal (median = 3 [interquartile range, 0-4]) and non-renal (median = 0 [interquartile range, 0-2]) scarring groups (p = 0.004). No significant difference in intrarenal reflux occurrence was observed between the renal (present/absent: 3/25) and non-renal (present/absent: 0/29) scarring groups (p = 0.112). CONCLUSION: Our results showed that pediatric patients with renal scarring on chronic-phase DMSA renal scintigraphy tended to have a more severe renal infection.

Optimal timing of liver transplantation for liver cirrhosis caused by sclerosing cholangitis in a patient with Langerhans cell histiocytosis: a case report.

Liver cirrhosis due to secondary sclerosing cholangitis caused by Langerhans cell histiocytosis (LCH) has a poor prognosis, and liver transplantation is the definitive treatment. However, the optimal timing has not been established. We report a 2-year-old girl with LCH-related liver cirrhosis who successfully underwent liver transplantation before progressing to severe liver dysfunction. Physical examination revealed a tumor on her palate. Biopsy was performed, and a diagnosis of LCH was established, together with hepatomegaly, splenomegaly, and rashes. Percutaneous liver biopsy before treatment revealed extreme fibrosis and absence of LCH cells. After beginning chemotherapy, she experienced several delays in treatment and dose reductions because of unacceptable bone marrow suppression, worsening liver dysfunction, and cholangitis. However, tumor shrinkage was observed in both magnetic resonance imaging and BRAF V600E mutant allele titers in her plasma. Given the good treatment response, liver transplantation was conducted. The postoperative course was uneventful, and chemotherapy was resumed 34 days after liver transplantation. Subsequent maintenance treatment was completed with no severe adverse effects. To prevent perioperative complications due to exacerbation of liver dysfunction and possible discontinuation of chemotherapy, liver transplantation should be considered before development of end-stage liver failure, provided that the original disease is well controlled.

Usefulness of central radiologic review in clinical trials of children with hepatoblastoma.

BACKGROUND: No previous research papers have reported a comparative survey of local radiologic diagnoses and central review in children with hepatoblastoma. OBJECTIVE: To evaluate the utility of central review of children with hepatoblastoma enrolled in a clinical trial. MATERIALS AND METHODS: The study included 91 children enrolled in a clinical trial conducted by the Japanese Study Group for Pediatric Liver Tumor. We compared the results of the initial pre-treatment extent of tumor (PRETEXT) disease staging performed at local sites with the results obtained on central review to determine the concurrence rates for tumor staging and additional criteria. RESULTS: The concurrence rate for PRETEXT staging was 70%. As the stage increased, the concurrence rate decreased. Using additional criteria, central review identified 143 lesions (157.1%), about 1.8 times higher than the number identified for the local site diagnoses. The additional criterion found most often on central review was "multifocal lesion" (n=19). The concurrence rate for lung metastases was high. However, our central review found many false-positive assertions of hepatic vein lesions, portal vein invasion and extrahepatic lesions among the local site diagnoses. CONCLUSION: In a clinical trial of hepatoblastoma, central review provided a more precise diagnosis than local site diagnoses with respect to severe PRETEXT stages III and IV cases and other cases including hepatic and portal vein invasion. The central review process appears to be effective and essential for improving the quality of clinical trials.

Insufficient hepatic uptake in pediatric patients on lymphoscintigraphy.

BACKGROUND: To demonstrate the association between pediatric outcomes and tracer hepatic uptake as a marker of systemic circulation in lymphoscintigraphy. METHODS: We included 31 initial lymphoscintigraphic studies. We compared the presence or absence of hepatic uptake between deceased and survived patients in both early and delayed images using Fisher's exact test. Kaplan-Meier survival analysis was performed based on imaging results, and these curves were compared using the log-rank test. The primary endpoint was death and the survival period was defined from the day of examination to the day of the last visit or death. RESULTS: Of 31 patients, six died. Hepatic uptake was significantly different in both early and delayed images (early images, died [with/without visualization] vs. survived [with/without visualization], 0/6 vs. 13/12, P = 0.028; delayed images, died [with/without visualization] vs. survived [with/without visualization], 2/4 vs. 22/3, P = 0.014) between deceased and survived patients. Survival periods were significantly different between the two groups with and without hepatic uptake in early and delayed images (with/without visualization in early imags = 1,177.1 ± 773.8 days/426.7 ± 419.8 days, P = 0.008 and with/without visualization in delayed images = 821.3 ± 738.0 days/467.4 ± 452.4 days, P = 0.003). CONCLUSIONS: Visualization of hepatic uptake in both early and delayed lymphoscintigraphy is associated with patient outcomes. Hepatic uptake could represent tracer inflow into the systemic circulation, indicating preservation of the connection between the lymphatic system and the systemic circulation. Physicians should evaluate these findings carefully on lymphoscintigraphy.

Prognostic impact of the multimodal treatment approach in patients with C19MC-altered embryonal tumor with multilayered rosettes.

OBJECTIVE: Embryonal tumor with multilayered rosettes (ETMR) is one of the childhood central nervous system tumors with the poorest prognosis; thus, establishing an optimal treatment strategy is essential, However, because of the low incidence and molecular heterogeneity of the tumor, the optimal treatment has not yet been determined. In this study the authors evaluated the prognostic impact of a multimodal treatment approach in patients with ETMR. METHODS: The authors evaluated 4 patients with ETMR at their institution who showed varied clinical features and also conducted clinical characterization and prognostic analysis of previously reported cases of the ETMR-presenting locus 19q13.42 with a chromosome 19 microRNA cluster (C19MC) amplification, which is known to be a diagnostic hallmark of the tumor. RESULTS: Of the 4 patients with ETMR in the authors' institution, in 1 case the patient's tumor showed a neuroblastoma-like appearance without multilayered rosettes; however, the diagnosis was confirmed by the presence of amplified C19MC. From a clinical standpoint, 2 patients who underwent gross-total resection (GTR) of the tumor and chemotherapy followed by high-dose chemotherapy (HDC) had long-term complete remission with or without local irradiation. In the multivariate analysis of 43 cases with C19MC-altered ETMR reported in the literature, HDC and local irradiation were significantly correlated with better event-free survival (HR 0.17, p = 0.0087; HR 0.17, p = 0.010) and overall survival (OS) (HR 0.29, p = 0.023; HR 0.28, p = 0.019), respectively. GTR was also correlated with better OS (HR 0.40, p = 0.039). CONCLUSIONS: This case series demonstrated pathological and clinical heterogeneity among ETMR cases and the diagnostic importance of the molecular genetic approach among embryonal tumors, particularly during infancy. Based on the results of the analysis of molecularly uniformed ETMR cases, multimodal treatment may play a significant role in the prognosis of these tumors.

Prognostic Implication of DNA Methylation Signature in Atypical Choroid Plexus Papilloma With Intracranial Dissemination.

An underestimation of pathologic diagnosis could be expected if disseminated choroid plexus tumors (CPTs) are diagnosed as lower grade tumors. Thus, molecular diagnosis using genome-wide DNA methylation profiling may be useful for clarifying the malignant potential of the tumor entity. Herein, we report a 2.7-year-old girl of pathologically atypical choroid plexus papilloma with intracranial dissemination. She was treated without radiotherapy and has been well, without recurrence for 32 months following the diagnosis. Subsequently, after a year from the diagnosis, T-stochastic neighbor embedding analysis was performed on methylation data of the case and compared with those of reference data of CPTs, revealing that the case was separated from the cluster of "Plexus tumor subclass pediatric B," which includes a majority of choroid plexus carcinomas with the worst prognosis of these entities, and was categorized into the cluster of "Plexus tumor subclass pediatric A" consisting of choroid plexus papilloma and atypical choroid plexus papillomas diagnosed pathologically. Our case indicates the clinical significance of molecular confirmation for diagnosis among CPTs, particularly lower grade tumors with dissemination.

Ultrasound evaluation of inflammation in patients with chronic recurrent multifocal osteomyelitis involving the mandible: report of three cases.

Chronic recurrent multifocal osteomyelitis (CRMO) is aseptic and can be diagnosed by excluding other diseases, such as bacterial osteomyelitis, scurvy, metabolic disorders, and malignant diseases; therefore, bone biopsy is usually performed to confirm the diagnosis. To prevent misdiagnosis, the appropriate timing and location for biopsy should be determined from an active phase of inflammation. We presented 3 cases of CRMO involving the mandible: Case 1: A 2-year-old girl diagnosed with CRMO in the chronic phase. A sonogram showed a slightly low echoic area adjacent to the bone cortex. Pathological examination revealed a slight accumulation of leukocytes and plasma cells, as well as predominant fibrous stroma. Case 2: A 9-year-old girl diagnosed with CRMO with massive new osteoid formation. A sonogram showed a massive inhomogeneous low echoic area adjacent to the bone cortex. Pathological examination revealed massive osteoid formation and scattered inflammatory cells infiltration. Case 3: A 3-year-old girl diagnosed with CRMO in the active phase. A sonogram showed a massive hypoechoic area adjacent to the bone cortex and hyperechogenicity associated with a muscular and subcutaneous edema. Pathological examination revealed massive bone destruction and neutrophils infiltration within damaged osteoid. Ultrasound was able to visualize the degree of inflammation in the mandible corresponding to that of the surrounding soft tissue in all 3 cases. Therefore, ultrasound would be useful in determining the appropriate timing and location for bone biopsy.

The diagnostic accuracy of ultrasound and upper gastrointestinal contrast studies for locating atresia/stenosis and intestinal malrotation and detecting annular pancreas in pediatric patients with duodenal atresia/stenosis.

PURPOSE: This study aimed to evaluate the diagnostic performance of ultrasound to locate atresia/stenosis and other abdominal anomalies in pediatric patients with duodenal atresia/stenosis, including intestinal malrotation and annular pancreas. METHODS: We classified 36 retrospective cases of duodenal atresia/stenosis based on intestinal malrotation status, and evaluated the diagnostic performance of ultrasound/upper gastrointestinal contrast studies to locate atresia/stenosis and intestinal malrotation, as well as ultrasound for detecting additional anomalies such as annular pancreas. The incidence of annular pancreas was compared between groups using Fisher's exact test. RESULTS: Atresia/stenosis was correctly located by ultrasound in 33 (91.7%) cases and by upper gastrointestinal contrast study in 36 (100%) cases. Of the eight cases with intestinal malrotation, five and two were correctly diagnosed by ultrasound and upper gastrointestinal contrast study, respectively. Ultrasound correctly diagnosed annular pancreas in 6/14 cases. The incidence of annular pancreas was significantly different between the groups (present/absent in groups with vs. without intestinal malrotation: 6/2 vs. 8/20, P = 0.036). CONCLUSIONS: Ultrasound has a relatively high capability in locating atresia/stenosis. However, some cases are misdiagnosed. In clinical practice, upper gastrointestinal contrast studies should be used complementarily during diagnosis. Additional anomalies may not be detected by preoperative examinations; therefore, surgeons should carefully evaluate for additional anomalies during surgery, especially coexisting intestinal malrotation and annular pancreas.