A quantitative image analysis using MRI for diagnosis of biliary atresia.

PURPOSE: Biliary atresia is a life-threatening disease that needs early diagnosis and management. Recently, MRI images have been used for the diagnosis of biliary atresia with improved accuracy of diagnosis when other imaging modalities such as ultrasonography are equivocal. This study aimed to evaluate the juxta-hilar extrahepatic biliary tree using MRI images to determine a quantitative value for diagnosing biliary atresia. MATERIALS AND METHODS: This retrospective study was approved by the Ethical Committee at Mackey Memorial Hospital (IRB Number: 15MMHIS149e). Between January 2010 and December 2015, twenty-five patients with surgically confirmed biliary atresia were enrolled (age 18-65 days). Another 25 patients with clinically or surgically diagnosed idiopathic neonatal hepatitis (age 6-64 days) and 20 patients with non-hepatobiliary disease (age 6-65 days) were considered control group and normal subjects, respectively. The diameter of the enlarged, T2-hyperintense structure was measured using MRI images by two radiologists both blinded. The cut-off value for a biliary atresia diagnosis was obtained by area under the curve analysis. RESULTS: The diameter of the T2-hyperintense structure at porta hepatis in biliary atresia (4.79 ±â€¯1.14 mm) is larger than in idiopathic neonatal hepatitis (1.72 ±â€¯0.42 mm) or in non-hepatobiliary disease (1.72 ±â€¯0.35 mm) (p < 0.05). The optimum cut-off value for diagnosing biliary atresia was 3.1 mm with 98% sensitivity and 98% specificity. CONCLUSION: The value of the enlarged, T2-hyperintense structure measured on MRI images was significantly increased in biliary atresia and may be useful in diagnosing biliary atresia.

A 7-Year-Old Girl with Early Developed Pseudocyst After Acute Pancreatitis: A Case Report and Literature Review.

We report a 7-year-old Taiwanese girl with acute pancreatitis (AP) complicated with pseudocyst (PC). The girl was found to have a PC by ultrasonograpgy (USG) and magnetic resonance imaging 14 days after the onset of AP. The girl was discharged 21 days after management with an asymptomatic PC. The diagnostic criteria of AP included abdominal pain, serum amylase or lipase level, and imaging findings. Transabdominal USG after appropriate preparation with adequate fasting, intake of some liquids during the scanning, and right decubitus position enhance the demonstration of pancreas and peripancreatic structures. PC could be seen in up to 38% of pediatric AP patients. It can form within 2 weeks after the onset of symptoms, although most are late complications. Pancreatic PCs have to be differentiated from other intra-abdominal cysts on USG according to their image character and anatomic location. A well-prepared USG examination in combination with liquid intake and right decubitus position is of value in the diagnosis and follow-up of PC. Abbreviations: ANC, acute necrotic collection; AP, acute pancreatitis; APFC, acute peripancreatic fluid collection; CECT, contrast-enhanced computed tomography; CRP, C-reactive protein; CT, computed tomography; MRI, magnetic resonance imaging; PAP, pediatric acute pancreatitis; PC, pseudocyst; USG, ultrasonography.

VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia.

We describe a neonate with VACTERL association and right-sided congenital diaphragmatic hernia (CDH). Such coexistence is rare. The lack of symptoms during the early neonatal period, the absence of bowel loops herniated into the right thoracic cavity, and an unfinished surgery led to clinical and radiological diagnostic difficulties. Respiratory distress occurred when the patient was 2 months old. Chest radiology plain film revealed typical findings of right-sided CDH. The diagnosis was confirmed after surgical exploration.

Potential Role of Tc-99m DTPA Diuretic Renal Scan in the Diagnosis of Calyceal Diverticulum in Children.

The aim of the study was to assess the usefulness of Technetium-99m diethylene triamine pentaacetic acid (Tc-99m DTPA) diuretic scan to diagnose calyceal diverticulum (CD). From January 2000 to June 2014, children with evidence of renal cystic lesions of undetermined diagnosis on ultrasound were enrolled. Computed tomography urography (CTU) and Tc-99m DTPA diuretic scan were performed to characterize the precise anatomy. The diagnosis of CD depended on visualization of a renal cystic lesion with filling of contrast material or radiotracer from the collecting system on CTU or diuretic renal scan. Children who had positive findings of CD on 1 or both imaging studies were selected and analyzed. Both CTU and Tc-99m DTPA diuretic renal scan were performed in 39 children. A total of 9 (23.1 %) children with CD were diagnosed. All 9 children had positive diagnosis of CD on diuretic renal scan. Only 6 (66.7%) children could be diagnosed by CTU, and CD was missed by CTU in 3 subjects. The differential renal functions in patients with CD were 46% to 55%. The time of radiotracer appearance in the CD ranged from the 8th to the 24th minute. Seven patients had persistent accumulation of radiotracer in their CD at the end of the study. Tc-99m DTPA diuretic renal scan seems to be more sensitive than CTU in diagnosing CD. The possible reasons of higher sensitivity are discussed. Additional advantages that Tc-99m DTPA diuretic renal scan provides include the following: continuous monitoring, less radiation doses, and information on renal function, making it an attractive alternative to CTU for diagnosis of CD.

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

An inactivating mutation in the GNAS gene causes either pseudohypoparathyroidism 1a (PHP1A) when it is maternally inherited or pseudopseudohypoparathyroidism (PPHP) when it is paternally inherited. We investigated clinical manifestations and mutations of the GNAS gene in ethnic Chinese patients with PHP1A or PPHP. Seven patients from 5 families including 4 girls and 2 boys with PHP1A and 1 girl with PPHP were studied. All PHP1A patients had mental retardation. They were treated with calcitriol and CaCO3 with regular monitoring of serum Ca levels, urinary Ca/Cr ratios, and renal sonography. Among them, 5 patients also had primary hypothyroidism suggesting TSH resistance. One female patient had a renal stone which was treated with extracorporeal shockwave lithotripsy. She had an increased urinary Ca/Cr ratio of 0.481 mg/mg when the stone was detected. We detected mutations using PCR and sequencing as well as analysed a splice acceptor site mutation using RT-PCR, sequencing, and minigene construct. We detected 5 mutations: c.85C>T (Q29*), c.103C>T (Q35*), c.840-2A>G (R280Sfs*21), c.1027_1028delGA (D343*), and c.1174G>A (E392K). Mutations c.840-2A>G and c.1027_1028delGA were novel. The c.840-2A>G mutation at the splice acceptor site of intron 10 caused retention of intron 10 in the minigene construct but skipping of exon 11 in the peripheral blood cells. The latter was the most probable mechanism which caused a frameshift, changing Arg to Ser at residue 280 and invoking a premature termination of translation at codon 300 (R280Sfs*21). Five GNAS mutations in ethnic Chinese with PHP1A and PPHP were reported. Two of them were novel. Mutation c.840-2A>G destroyed a spice acceptor site and caused exon skipping. Regular monitoring and adjustment in therapy are mandatory to achieve optimal therapeutic effects and avoid nephrolithiasis in patients with PHP1A.

Primary hepatic leiomyosarcoma in a 5-month-old female infant.

Leiomyosarcoma is a malignant mesenchymal neoplasm deriving from the smooth muscle cells. Primary hepatic leiomyosarcoma is very rare. Its onset is always during middle and old age. Herein, we present a case of primary hepatic leiomyosarcoma in a 5-month-old girl who may be the youngest patient reported in the known published English literature.

Recurrent Intussusception: when Should Surgical Intervention be performed?

OBJECTIVE: To determine the optimal timing of surgery for recurrent intussusception. METHODS: We retrospectively reviewed medical records of patients aged from 0 to 18 years old with diagnosis of intussusception in the Pediatric Department at Mackay Memorial Hospital between January 1995 and May 2010. RESULTS: During the study period, there were 686 children (divided into three age groups: 367 < 2 years, 289 aged 2 to 5 years, 30 > 5 years) with diagnoses of intussusception. Eighty-five of the 686 patients had recurrent intussusception, of whom 56 had two, 16 had three, 11 had four, and 2 had five episodes. The recurrence rate after the first, second, third, and fourth barium enema reductions were 15.7%, 37.7%, 68.4%, and 100.0%, respectively. The incidence of recurrence and failure rate of barium enema reduction did not differ significantly among these three age groups. Surgery was performed in 177 children (146 during the first episode and 31 in recurrent cases). The probability of eventual surgery after first enema reduction was 21.8%, after the second 35.7%, and after the third 70.0%. Lead points were found in 15 children, and all of them were found during surgery for the first episode of intussusception. CONCLUSION: The probability of recurrence was 100% after the fourth episode of intussusception in our study. After the third episode of intussusception, the probability of recurrence and eventual surgery were 68% and 70%, respectively. From this study, surgical intervention should be considered at the third episode of intussusception.

Usefulness of magnetic resonance cholangiopancreatography in pancreatobiliary abnormalities in pediatric patients.

BACKGROUND: Magnetic resonance cholangiopancreatography (MRCP) is an innovative and noninvasive technique for evaluating the biliary tree and pancreatic duct in children. The aim of this study was to assess the usefulness of MRCP as a noninvasive method to evaluate the biliary system in children. METHODS: We retrospectively reviewed the records of patients undergoing MRCP between October 2002 and May 2007 for suspected biliary system abnormalities. MRCP findings were compared with other imaging modalities, operative findings, and clinical endpoints. RESULTS: Complete data were available for 60 patients (35 girls, 25 boys; mean age 2 years, 33 children less than 1 year old). Ultrasound was performed in all 60 patients. Twenty-two patients had choledochal cyst, and 19 had a thin or invisible gall bladder. Endoscopic retrograde cholangiopancreatography was done in two patients. The sensitivities and specificities of MRCP for diagnosing choledochal cyst and biliary atresia were 100.0% and 100.0% and 86.7% and 100.0%, respectively. Surgery was performed in 37 patients, including 21 with a choledochal cyst, 14 with biliary atresia, and 1 with a pancreatic duct stone. CONCLUSION: MRCP is useful method for evaluation of the pancreaticobiliary system in pediatric patients. It yields a high degree of accuracy in the diagnosis of biliary atresia and choledochal cyst.

Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings.

OBJECTIVE: To present prenatal ultrasound and perinatal magnetic resonance imaging (MRI) findings of Galloway-Mowat syndrome. CASE REPORT: A 31-year-old woman, gravida 3, para 2, was referred for genetic counseling at 29 weeks of gestation because of abnormal ultrasound findings and a previous child with Galloway-Mowat syndrome. During this pregnancy, microcephaly, intrauterine growth restriction (IUGR), and oligohydramnios were first noted at 27 weeks of gestation. Repeated ultrasounds showed microcephaly, IUGR, and oligohydramnios. MRI performed at 32 weeks of gestation showed reduced sulcation of the brain, pachygyria, poor myelination of the white matter, and cerebellar atrophy. A diagnosis of recurrent Galloway-Mowat syndrome was made. At 40 weeks of gestation, a 2,496-g female baby was delivered with microcephaly, a narrow slopping forehead, epicanthic folds, microphthalmos, a highly arched palate, a small midface, a beaked nose, thin lips, large low-set floppy ears, clenched hands, and arachnodactyly. Postnatal MRI findings were consistent with the prenatal diagnosis. Renal ultrasound showed enlarged bilateral kidneys with increased echogenicity. At the age of 2 weeks, the infant became edematous and developed nephrotic syndrome. CONCLUSION: Microcephaly, IUGR, and oligohydramnios are significant ultrasound triad of fetal Galloway-Mowat syndrome. Prenatal ultrasound diagnosis of microcephaly, IUGR, and oligohydramnios in late second trimester or in early third trimester should alert clinicians to the possibility of Galloway-Mowat syndrome and prompt a detailed search of abnormal sulcation, cortical gyral maldevelopment, and cerebellar atrophy by fetal ultrafast MRI.

Fetal cystic lung lesions: evaluation with magnetic resonance imaging.

OBJECTIVES: To investigate the contribution of magnetic resonance imaging (MRI) to the diagnosis of fetal cystic lung lesions found on routine prenatal ultrasound (US). STUDY DESIGN: Experienced radiologists retrospectively reviewed 34 fetal MRI studies performed in 20 fetuses (from 20 to 35 gestational weeks; including 14 repeat studies 10 weeks after the initial MRI), focusing on shape, signal characteristics, feeding artery, volume change, and location of the cystic lesions. Diagnoses were confirmed after birth by postnatal multidetector computed tomography (MDCT) and/or surgery. RESULTS: Bronchopulmonary sequestration (BPS) in the second trimester appeared as a well-defined, homogeneous, hyperintense mass (pure BPS) in eight cases or as a lobulated, inhomogeneous hyperintense mass (BPS mixed with congenital cystic adenomatoid malformation (CCAM)) in three cases. The feeding artery was visible in all 11 cases in the initial MRI, and regression of the mass was seen in 7 cases. As the mass regressed in the third trimester, the signal intensity decreased, becoming inhomogeneous, and the margins became lobulated. The mean initial ratio of the volume of the BPS lesion to the ipsilateral lung in lesions with partial regression was 82%; the mean initial ratio in lesions with nearly complete regression was 61%. CCAM (6) cases also appeared as a hyperintense lobulated mass, and as the lesions regressed, they decreased in size and signal intensity. As with BPS, the larger the lesion on initial MRI, the less likely it was to regress completely. Congenital lobar fluid overload in three cases appeared as a hyperintense, homogeneous lobe with stretched hilar vessels. CONCLUSION: Prenatal MRI is useful as a diagnostic tool complementary to US for evaluating fetal cystic lung lesions. Smaller lung lesions (<60%) may regress completely.

Evaluation of arterial phase MDCT for the characterization of lower gastrointestinal bleeding in infants and children: Preliminary results.

OBJECTIVE: The purpose of this study was to prospectively evaluate the accuracy of MDCT for the characterization of occult lower gastrointestinal bleeding in infants and children. SUBJECTS AND METHODS: MDCT examinations were prospectively performed on 27 patients (2l boys, six girls; age range, 2 months-18 years). Patients with known causes of lower gastrointestinal bleeding were excluded from the study. Nonionic contrast medium was administered in an amount based on body weight. Images were obtained with a 16-MDCT scanner. For the arterial phase the section thickness was 1 mm; beam pitch, 1; and reconstruction interval, 0.7 mm. The scans were examined for abnormal vessels and extravasation of contrast medium. Two radiologists independently reviewed the images. The sensitivity, specificity, and diagnostic accuracy of MDCT were assessed with the pathologic findings or the final diagnosis as the reference standard. RESULTS: Twenty of 27 patients had abnormal MDCT findings: arteriovenous malformation in 17 patients and Meckel's diverticulum in three patients. Contrast extravasation was identified in four patients. Surgery was performed on 13 of the 27 patients, and the diagnosis was otherwise confirmed in two additional patients. In these 15 cases, the sensitivity, specificity, and diagnostic accuracy of MDCT were 82%, 50%, and 74%. The interobserver difference was not significant (McNemar exact test, p = 0.063). CONCLUSION: MDCT can be used to identify the location and source of lower gastrointestinal bleeding in infants and children.

A 4-year-old boy presenting with recurrent croup.

Croup is common in children but recurrent croup is unusual. A 4-year-11-month-old boy presented with recurrent croup. Physical examination revealed decreased breath sounds over left lower chest. Chest x-ray disclosed segmental atelectasis over left lower chest and a mass shadow over mediastinum.

Acute urinary retention in a 7-year-old girl: an unusual complication of cytomegalovirus cystitis.

Acute urinary retention in children is rare. There are a variety of causes about the disease. We report a case of a 7-year-old girl with acute urinary retention and hematuria. Pelvic sonogram revealed an isoechoic mass in the urinary bladder that appeared as a lobulated filling defect over the bladder neck on intravenous urography and computed tomography studies. The surgical specimen from cystoscopic examination showed reactive changes on pathologic analysis. Cytomegalovirus was isolated from urine culture. The girl recovered after supportive treatment.