Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the EMD gene encoding emerin, and the autosomal EDMD2, due to mutations in the LMNA gene encoding lamin A/C. A clear definition of the magnetic resonance imaging (MRI) pattern in the two forms, and especially in the rarer EDMD1, is still lacking, although a preferential involvement of the medial head of the gastrocnemius has been suggested in EDMD2. We report a 13-year-old boy with mild limb girdle muscle weakness, elbow and ankle contractures, with absence of emerin at muscle biopsy, carrying a hemizygous frameshift mutation on the EMD gene (c.153dupC/p.Ser52Glufs*9) of maternal inheritance. Minor cardiac rhythm abnormalities were detected at 24-hour Holter electrocardiogram and required ß-blocker therapy. MRI scan of the thighs showed a mild diffuse involvement, while tibialis anterior, extensor digitorum longus, peroneus longus, and medial gastrocnemius were the most affected muscles in the leg. We also provide a review of the muscular MRI data in EDMD patients and highlight the relative heterogeneity of the MRI patterns found in EDMDs, suggesting that muscle MRI should be studied in larger EDMD cohorts to better define disease patterns and to cover the wide disease spectrum.

Practical approach for the diagnosis of biliary atresia on imaging, part 2: magnetic resonance cholecystopancreatography, hepatobiliary scintigraphy, percutaneous cholecysto-cholangiography, endoscopic retrograde cholangiopancreatography, percutaneous liver biopsy, risk scores and decisional flowchart.

We aim to present a practical approach to imaging in suspected biliary atresia, an inflammatory cholangiopathy of infancy resulting in progressive fibrosis and obliteration of extrahepatic and intrahepatic bile ducts. Left untreated or with failure of the Kasai procedure, biliary atresia progresses to biliary cirrhosis, end-stage liver failure and death within the first years of life. Differentiating biliary atresia from other nonsurgical causes of neonatal cholestasis is difficult as there is no single method for diagnosing biliary atresia and clinical, laboratory and imaging features of this disease overlap with those of other causes of neonatal cholestasis. In this second part, we discuss the roles of magnetic resonance (MR) cholecystopancreatography, hepatobiliary scintigraphy, percutaneous biopsy and percutaneous cholecysto-cholangiography. Among imaging techniques, ultrasound (US) signs have a high specificity, although a normal US examination does not rule out biliary atresia. Other imaging techniques with direct opacification of the biliary tree combined with percutaneous liver biopsy have roles in equivocal cases. MR cholecystopancreatography and hepatobiliary scintigraphy are not useful for the diagnosis of biliary atresia. We propose a decisional flowchart for biliary atresia diagnosis based on US signs, including elastography, percutaneous cholecysto-cholangiography or endoscopic retrograde cholangiopancreatography and liver biopsy.

Intracavitary contrast-enhanced ultrasonography in children: review with procedural recommendations and clinical applications from the European Society of Paediatric Radiology abdominal imaging task force.

Contrast-enhanced ultrasonography (US) has become an important supplementary tool in many clinical applications in children. Contrast-enhanced voiding urosonography and intravenous US contrast agents have proved useful in routine clinical practice. Other applications of intracavitary contrast-enhanced US, particularly in children, have not been widely investigated but could serve as a practical and radiation-free problem-solver in several clinical settings. Intracavitary contrast-enhanced US is a real-time imaging modality similar to fluoroscopy with iodinated contrast agent. The US contrast agent solution is administered into physiological or non-physiological body cavities. There is no definitive list of established indications for intracavitary US contrast agent application. However, intracavitary contrast-enhanced US can be used for many clinical applications. It offers excellent real-time spatial resolution and allows for a more accurate delineation of the cavity anatomy, including the internal architecture of complex collections and possible communications within the cavity or with the surrounding structures through fistulous tracts. It can provide valuable information related to the insertion of catheters and tubes, and identify related complications such as confirming the position and patency of a catheter and identifying causes for drainage dysfunction or leakage. Patency of the ureter and biliary ducts can be evaluated, too. US contrast agent solution can be administered orally or a via nasogastric tube, or as an enema to evaluate the gastrointestinal tract. In this review we present potential clinical applications and procedural and dose recommendations regarding intracavitary contrast-enhanced ultrasonography.

Standardization of pediatric uroradiological terms: a multidisciplinary European glossary.

To promote the standardization of nephro-uroradiological terms used in children, the European Society of Paediatric Radiology uroradiology taskforce wrote a detailed glossary. This work has been subsequently submitted to European experts in pediatric urology and nephrology for discussion and acceptance to improve the quality of radiological reports and communication between different clinicians involved in pediatric urology and nephrology.

European Society of Paediatric Radiology abdominal imaging task force recommendations in paediatric uroradiology, part IX: Imaging in anorectal and cloacal malformation, imaging in childhood ovarian torsion, and efforts in standardising paediatric uroradiology terminology.

At the occasion of the European Society of Paediatric Radiology (ESPR) annual meeting 2015 in Graz, Austria, the newly termed ESPR abdominal (gastrointestinal and genitourinary) imaging task force set out to complete the suggestions for paediatric urogenital imaging and procedural recommendations. Some of the last missing topics were addressed and proposals on imaging of children with anorectal and cloacal malformations and suspected ovarian torsion were issued after intense discussions and a consensus finding process that considered all evidence. Additionally, the terminology was adapted to fit new developments introducing the term pelvicalyceal dilatation/distension (PCD) instead of the sometimes misunderstood hydronephrosis. The present state of paediatric urogenital radiology was discussed in a dedicated minisymposium, including an attempt to adapt terminology to create a standardised glossary.

Carpal erosions in children with juvenile idiopathic arthritis: repeatability of a newly devised MR-scoring system.

BACKGROUND: Juvenile idiopathic arthritis (JIA) is characterized by synovial inflammation, with potential risk of developing progressive joint destruction. Personalized state-of-the-art treatment depends on valid markers for disease activity to monitor response; however, no such markers exist. OBJECTIVE: To evaluate the reliability of scoring of carpal bone erosions on MR in children with JIA using two semi-quantitative scoring systems. MATERIALS AND METHODS: A total of 1,236 carpal bones (91 MR wrist examinations) were scored twice by two independent pediatric musculoskeletal radiologists. Bony erosions were scored according to estimated bone volume loss using a 0-4 scale and a 0-10 scale. An aggregate erosion score comprising the sum total carpal bone volume loss was calculated for each examination. RESULTS: The 0-4 scoring system resulted in good intra-reader agreement and moderate to good inter-observer agreement in the assessment of individual bones. Fair and moderate agreement were achieved for inter-reader and intra-reader agreement, respectively, using the 0-10 scale. Intra- and particularly inter-reader aggregate score variability were much less favorable, with wide limits of agreement. CONCLUSION: Further analysis of erosive disease patterns compared with normal subjects is required, and to facilitate the development of an alternative means of quantifying disease.

ESPR Uroradiology Taskforce--imaging recommendations in paediatric uroradiology, part VIII: retrograde urethrography, imaging disorder of sexual development and imaging childhood testicular torsion.

Three new consensus-based recommendations of the European Society of Paediatric Radiology Uroradiology Taskforce and the European Society of Urogenital Radiology Paediatric Working Group on paediatric uroradiology are presented. One deals with indications and technique for retrograde urethrography, one with imaging in the work-up for disorders of sexual development and one with imaging workflow in suspected testicular torsion. The latter is subdivided to suggest a distinct algorithm to deal with testicular torsion in neonates. These proposals aim to outline effective imaging algorithms to optimise diagnostic accuracy and to harmonize diagnostic imaging among institutions and practitioners.

ESPR uroradiology task force and ESUR Paediatric Work Group--Imaging recommendations in paediatric uroradiology, part VI: childhood renal biopsy and imaging of neonatal and infant genital tract. Minutes from the task force session at the annual ESPR Meeting 2012 in Athens on childhood renal biopsy and imaging neonatal genitalia.

The European Society of Paediatric Radiology Uroradiology Task Force and the ESUR Paediatric Work Group jointly publish guidelines for paediatric urogenital imaging. Two yet unaddressed topics involving patient safety and imaging load are addressed in this paper: renal biopsy in childhood and imaging of the neonatal genital tract, particularly in girls. Based on our thorough review of literature and variable practice in multiple centers, procedural recommendations are proposed on how to perform renal biopsy in children and how to approach the genital tract in (female) neonates. These are statements by consensus due to lack of sufficient evidence-based data. The procedural recommendation on renal biopsy in childhood aims at improving patient safety and reducing the number of unsuccessful passes and/or biopsy-related complications. The recommendation for an imaging algorithm in the assessment of the neonatal genital tract focuses on the potential of ultrasonography to reduce the need for more invasive or radiating imaging, however, with additional fluoroscopy or MRI to be used in selected cases. Adherence to these recommendations will allow comparable data and evidence to be generated for future adaptation of imaging strategies in paediatric uroradiology.

ESPR uroradiology task force imaging recommendations in paediatric uroradiology, part VII: standardised terminology, impact of existing recommendations, and update on contrast-enhanced ultrasound of the paediatric urogenital tract.

Our purpose is to harmonise and standardise terminology in paediatric uroradiology, to provide and update recommendations for contrast-enhanced US to standardise imaging and encourage further research, and to assess the impact of the existing recommendations in paediatric urogenital imaging. Based on thorough review of literature and variable practice at several centres and after discussion within urogenital imaging groups as well as with other subspecialties, we propose a standardisation of terminology in urogenital imaging. An update with recommendations on paediatric contrast-enhanced US has been issued based on available literature and reports. Finally, a questionnaire has been used to assess the knowledge, applicability and usefulness of, and the adherence to existing recommendations of the European Society of Paediatric Radiology (ESPR) Uroradiology Task Force. In conclusion, the ESPR is working to improve patient safety and optimise paediatric urogenital imaging. Standardisation of terminology and provision of updated knowledge on contrast-enhanced US in childhood will contribute to this task, ideally reducing the need for invasive or radiating imaging. Not all existing recommendations are commonly known, which limits adherence to these recommendations and the availability of comparable data and evidence for future adaptation of imaging strategies in paediatric uroradiology.

MRI of the wrist in juvenile idiopathic arthritis: erosions or normal variants? A prospective case-control study.

BACKGROUND: Bony depressions at the wrist resembling erosions are frequently seen on MRI in healthy children. The accuracy of MRI in detecting early bony destruction is therefore questionable. We compared findings on MRI of the wrist in healthy children and those with juvenile idiopathic arthritis (JIA) to investigate markers for true disease. MATERIALS AND METHODS: We compared the number and localisation of bony depressions at the wrist in 85 healthy children and 68 children with JIA, ages 5-15 years. The size of the wrist was assessed from a radiograph of the wrist performed on the same day as the MRI. RESULTS: No significant difference in the number of bony depressions in the carpal bones was seen between healthy children and children with JIA at any age. Depressions are found in similar locations in the two groups, except for a few sites, where bony depressions were seen exclusively in the JIA group, particularly at the CMC joints. The wrist was significantly smaller in children with JIA (P < 0.001). CONCLUSIONS: Using adult scoring systems and standard MR sequences in the assessment of bone destruction in children may lead to overstaging or understaging of disease. At present, standard MRI sequences cannot easily be used for assessment of early signs of erosions in children.

Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients.

INTRODUCTION: POMT2-related limb girdle muscular dystrophy (LGMDR14) is a rare muscular dystrophy caused by mutations in the POMT2 gene. Thus far only 26 LGMDR14 subjects have been reported and no longitudinal natural history data are available. CASE REPORT: We describe two LGMDR14 patients followed for 20 years since infancy. Both patients presented a childhood-onset, slowly progressive pelvic girdle muscular weakness leading to loss of ambulation in the second decade in one patient, and cognitive impairment without detectable brain structural abnormalities. Glutei, paraspinal, and adductor muscles were the primarily involved muscles at MRI. DISCUSSION: This report provides natural history data on LGMDR14 subjects, with a focus on longitudinal muscle MRI. We also reviewed the LGMDR14 literature data, providing information on the LGMDR14 disease progression. Considering the high prevalence of cognitive impairment in LGMDR14 patients, a reliable application of functional outcome measures can be challenging, therefore a muscle MRI follow-up to assess disease evolution is recommended.

Standardization of pediatric uroradiological terms: A multidisciplinary European glossary.

To promote the standardization of nephro-uroradiological terms used in children, the European Society of Pediatric Radiology uroradiology taskforce wrote a detailed glossary. This work has been subsequently submitted to European experts in pediatric urology and nephrology for discussion and acceptance to improve the quality of radiological reports and communication among different clinicians involved in pediatric urology and nephrology.

Prevalence of fasting hypercalciuria associated with increased citraturia in the ambulatory evaluation of nephrolithiasis.

BACKGROUND: Nephrolithiasis is a common, high costing pathology of the urinary tract. The most common urinary abnormalities are fasting hypercalciuria, hypercalciuria and hypocitraturia. This study aimed to identify the principal urinary abnormalities in our patients. METHODS: Ninety-eight patients (pts) (43 females, 55 males) with recurrent calcium nephrolithiasis underwent metabolic evaluation. In two 24-hr urine collections the following parameters were evaluated: calcium, phosphate, sodium, potassium, chloride, magnesium, citrate, oxalate, uric acid, creatinine (Cr), urea, ammonium and pH; blood measurement of calcium, phosphate, sodium, potassium, chloride, magnesium, uric acid, Cr, urea, acid-base balance ionized calcium and intact parathyroid hormone (iPTH) were also performed. A first morning voided urine sample was collected for measuring the urinary cross-links and fasting calciuria. The tubular threshold of phosphate (TmP) was calculated according to Walton and Bijovet. Metabolic evaluation was repeated in 63/98 pts after 7 days on a low calcium diet. RESULTS: The most common urinary abnormalities were fasting hypercalciuria in 51/96 pts (53.1%), hypercalciuria in 33/97 pts (34%) and hypocitraturia in 29/98 pts (29%); 24/33 pts (73%) with hypercalciuria had fasting hypercalciuria. Hypercalciuria was partially corrected on the calcium-restricted diet, while fasting hypercalciuria was not. Urine citrate levels were significantly higher in patients with fasting hypercalciuria. CONCLUSIONS: Fasting hypercalciuria was the most frequent urinary abnormality and it was not corrected with a calcium-restricted diet. In fasting hypercalciuric patients, increased bone resorption activity could be responsible for higher citraturia levels.

Childhood-onset lupus nephritis: a single-center experience of pulse intravenous cyclophosphamide therapy.

BACKGROUND: Evidence is accumulating about the efficacy of pulse intravenous (iv) cyclophosphamide (pCy) treatment for lupus nephritis (LN), but concern still exists on the use of this drug in children, on account of its oncogenic potential and gonadal toxicity. Medical records of 33 LN children were retrospectively analysed in order to assess the effect of treatment with pCy and corticosteroids (Cs) on renal survival and child growth. PATIENTS AND METHODS: From 1974 to 1999, 33 pediatric patients with LN were admitted to our hospital. Clinical and hematological data were recorded for a mean period of eight years (range 1.5-18.9). Two groups of children who received different treatment protocols were compared: 19 were treated with Cs alone or combined with azathioprine (Aza) and 14 received Cs and pCy (0.5 g/m2 monthly); the mean number of Cy infusions was 13 (range 6-27). RESULTS: In the pCy treated group, survival was better, protection of renal function lasted longer, and there were no evident short- and long-term side effects. pCy treated children showed better growth than the other group. Many important factors could have contributed to these positive effects, such as the time of onset of the disease, its duration before referral to the pediatric nephrology unit, year at first admission (mean 1985 Cs +/- AZA group vs 1988 pCy group), renal failure at onset, degree of renal lesion (renal histology not evaluated in 36% of cases). CONCLUSION: pCy treatment in pediatric LN may improve patient and renal survival and seems safe, causing less growth impairment.

Whole-body MRI as an unconventional diagnostic tool in a pediatric patient with systemic infection.

Anaplasma phagocytophilum, an obligate intracellular bacterium, is the causative agent of human granulocytic anaplasmosis (HGA), a tickborne infection usually manifesting as fever, malaise, cytopenia, spleen enlargement, and hepatitis. Herein, we report a case of a 14-year-old girl with HGA whose whole-body magnetic resonance imaging (MRI) disclosed an unusual picture characterized by small, widespread punctuate millimetric nodules, hypointense on T1-weighted and hyperintense on STIR sequences. This firstly reported finding may represent an alternative tool for identifying atypical infectious diseases.

The worsening of left ventricular hypertrophy is the strongest predictor of sudden cardiac death in haemodialysis patients: a 10 year survey.

BACKGROUND: Although the incidence of sudden cardiac death (SCD) is high among haemodialysis (HD) patients, there are few papers available on this topic. The aim of this study on a single-centre HD population observed over a 10 year period was to identify patient- and HD-related specific factors that might be associated with a higher risk of SCD. METHODS: The study included 123 patients (76 men; age 29-79 years) undergoing renal replacement therapy at our dialysis unit for at least 6 months. For each patient, routine laboratory tests were performed monthly, blood pressure was measured both at the start and the end of each dialysis session, haemoglobin and pre-dialysis serum K(+) were determined weekly, serum iPTH was assessed thrice yearly, and an echocardiographic study was performed annually to determine the left ventricular mass index (LVMi). The prevalence of cardiovascular (CV) co-morbidities, and the incidence of new events were also recorded. RESULTS: During the 10 years, 85 patients died-16 from SCD, 30 from cardiac causes (CC) other than SCD, and 39 from other causes (OC); 38 patients were still alive (AL) at the end of the observation period. Comparative analysis of SCD, CC, OC and AL, reveals that the male prevalence (13/3) was higher in SCD than in AL, while AL were younger than the deceased patients regardless of the cause of death (P<0.0001; ANOVA), the duration of arterial hypertension was higher in SCD (129+/-104 months; P = 0.0005; ANOVA), despite similar antihypertensive therapies, and the difference between LVMi at end-point and at inception (deltaLVMi) was significantly higher in SCD [+56+/-38 g/m(2) body surface area] compared with OC (-5+/-35), AL (-17+/-25) and even CC (7+/-30) (P<0.0001; ANOVA); finally, the prevalence of patients with ischaemic heart disease (IHD) was higher in the SCD group (11/5; P<0.0001, chi(2)). Univariate Cox regression analysis demonstrated that the factors increasing the risk of SCD were IHD (P = 0.002), the worsening of left ventricular hypertrophy (LVH) (P<0.0001), and the presence of long-lasting arterial hypertension (P = 0.001). An increase in LVH was the sole risk factor for SCD when comparing SCD with CC patients (P = 0.003). By multivariate Cox regression analysis deltaLVMi was identified as the strongest predictor of SCD (P<0.0001). CONCLUSION: While confirming the role of common CV risk factors for SCD in dialysis patients such as IHD and arterial hypertension, this study is the first to demonstrate that the worsening of LVH is the strongest predictor of sudden death.