Imaging of diseases of the vagina and external genitalia in children.

A wide range of congenital or acquired conditions, some pretty rare, may affect the vulva and vagina in children. Swelling, visible or palpable masses and abnormal discharges are common symptoms of conditions affecting the vulva and/or the lower genital tract. The majority of these diseases are benign. Ultrasonography is pivotal to elucidate the anatomical origin of these conditions and make the diagnosis. Magnetic resonance imaging can be relevant to improve diagnostic confidence and, if needed, to plan more accurate surgical treatment. The aim of this pictorial essay is to review the related imaging findings to help make radiologists familiar with these conditions.

MRI in sarcoglycanopathies: a large international cohort study.

OBJECTIVES: To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. METHODS: Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well. RESULTS: Scans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of vasti muscles was a consistent finding in these patients, including the most severe ones. CONCLUSIONS: Muscle involvement on MRI is consistent in patients with LGMD2C-F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.

Critical role of STIR MRI in early detection of post-streptococcal periostitis with dysproteinaemia (Goldbloom's syndrome).

OBJECTIVES: In 1966, Goldbloom et al. described two children who developed a peculiar clinical picture characterized by intermittent daily bone pain in the lower limbs, fever spikes, increased acute phase reactants and dysproteinaemia. The syndrome occurred two weeks after a group A ß-haemolytic streptococcus infection. So far, only a few cases have been reported in the medical literature in English. METHODS: We report two further cases of Goldbloom's syndrome with a review of the literature in English. RESULTS: Our two patients lived in the same Italian region and presented their syndrome onset a week apart. Early use of STIR MRI revealed an atypical metaphyseal hyperintensity in the femurs and tibias. X-ray showed periosteal hyperostosis. A short cycle of corticosteroids led to rapid recovery of symptoms and disappearance of bone changes. CONCLUSIONS: The reported cases highlight a likely under-recognised post-streptococcal inflammatory periosteal reaction and emphasise the diagnostic utility of the newer imaging modalities.

Multimodality imaging of pediatric airways disease: indication and technique.

Congenital and acquired airway anomalies represent a relatively common albeit diagnostic and therapeutic challenge, even for the most skilled operators in dedicated centers. Airway malformations encompass a wide spectrum of pathologies involving the larynx, trachea and bronchi, esophagus, mediastinal vessels. These developmental lesions are often isolated but the association of two or more anomalies is not infrequent. From the traditional chest X-ray to the newest applications of Optical Coherence Tomography, non- or mini-invasive diagnostic techniques represent useful tools to integrate invasive procedures. Comprehensive knowledge of the characteristics of each diagnostic test is mandatory for its useful application. The aim of our paper is to analyze the clinical indications for Imaging the Airway disease in pediatric population, and describe the diagnostic techniques. Only by a close interaction between all the operators involved in diagnosis and treatment of pediatric airway, as it happens in Multidisciplinary Airway Team, the non- or mini-invasive imaging is effective.

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

We report a 14-year-old-boy with markedly elevated serum creatine kinase (CK) levels, in whom massive triglyceride storage was found in peripheral blood leukocytes and in muscle biopsy. Sequencing PNPLA2, the gene encoding the adipose triglyceride lipase (ATGL) and responsible for the neutral lipid storage disease with myopathy (NLSDM), we identified two heterozygous mutations, including a previously reported nonsense and a novel missense mutation in the patatin domain of the gene. Lipid storage myopathy can be clinically silent in childhood and presenting only with hyperCKemia.

MRI of the wrist in juvenile idiopathic arthritis: proposal of a paediatric synovitis score by a consensus of an international working group. Results of a multicentre reliability study.

BACKGROUND: MRI is a sensitive tool for the evaluation of synovitis in juvenile idiopathic arthritis (JIA). OBJECTIVE: The purpose of this study was to introduce a novel MRI-based score for synovitis in children and to examine its inter- and intraobserver variability in a multi-centre study. MATERIALS AND METHODS: Wrist MRI was performed in 76 children with JIA. On postcontrast 3-D spoiled gradient-echo and fat-suppressed T2-weighted spin-echo images, joint recesses were scored for the degree of synovial enhancement, effusion and overall inflammation independently by two paediatric radiologists. Total-enhancement and inflammation-synovitis scores were calculated. RESULTS: Interobserver agreement was poor to moderate for enhancement and inflammation in all recesses, except in the radioulnar and radiocarpal joints. Intraobserver agreement was good to excellent. For enhancement and inflammation scores, mean differences (95 % CI) between observers were -1.18 (-4.79 to 2.42) and -2.11 (-6.06 to 1.83). Intraobserver variability (reader 1) was 0 (-1.65 to 1.65) and 0.02 (-1.39 to 1.44). CONCLUSION: Intraobserver agreement was good. Except for the radioulnar and radiocarpal joints, interobserver agreement was not acceptable. Therefore, the proposed scoring system requires further refinement.

Intra-articular venous malformations of the knee.

BACKGROUND: Intra-articular venous malformations (IAVM) of the knee represent a rare group of low-flow vascular malformations, mainly reported in the literature as synovial hemangiomas, usually with an onset in early childhood. The main symptoms and signs are knee pain, swelling, and hemarthrosis. These lesions are slowly progressive and can lead to chronic synovitis and joint damage. Confusing nomenclature and classification of these lesions have often led to misdiagnosis and inappropriate treatment. We report our experience in the treatment of 14 consecutive patients affected by knee IAVM. METHODS: We carried out a retrospective study based on the review of the medical records and diagnostic imaging of the patients admitted to our department from October 1999 to June 2009, and discharged with the final diagnosis of IAVM of the knee. RESULTS: We observed 14 consecutive patients (8 boys, 6 girls); the median age at symptom onset was 5 years (range, 2.5 to 13 y). Magnetic resonance imaging was diagnostic in all cases. Surgical resection associated with a wide synoviectomy was the therapeutic procedure of choice in all cases. Within 6 months after surgery and physiotherapy, all the patients were symptom free with a full or at least acceptable knee range of motion. CD34 staining carried out in the last 7 cases of our series showed labeling of the endothelium of the thick-walled vessels, whereas the endothelium of the thin-walled vascular spaces was not stained. This finding of unstained vascular spaces suggests that a component of lymphatic vessels mixed with dysplastic blood vessels may be frequently present in these abnormalities. CONCLUSIONS: Magnetic resonance imaging plays a pivotal role in identifying the lesion. Surgical excision is always indicated and should be performed as early as possible to avoid lesion progression and to reduce the risk of chondral degeneration. According to the microscopic features of our resected specimens, we suggest that these lesions of the knee should be more properly named as IAVM instead of hemangiomas. LEVEL OF EVIDENCE: Level IV.

Comparative Study Between Functional MR Urography and Renal Scintigraphy to Evaluate Drainage Curves and Split Renal Function in Children With Congenital Anomalies of Kidney and Urinary Tract (CAKUT).

Background: Obstructive congenital anomalies of the kidney and urinary tract have a high risk of kidney failure if not surgically corrected. Dynamic renal scintigraphy is the gold standard technique to evaluate drainage curves and split renal function (SRF). Objectives: To compare functional magnetic resonance (MR) urography with dynamic renal scintigraphy in measuring volumetric SRF and in the classification of drainage curves in patients with congenital anomalies of the kidney and urinary tract. Materials and Methods: We retrospectively collected patients with hydroureteronephrosis or pelvicalyceal dilatation at renal ultrasound, who underwent both functional MR urography and dynamic renal scintigraphy (DRS) within 6 months. DRS studies were evaluated by a single nuclear medicine physician with a double reading. Functional MR urography renograms were blind evaluated twice by two radiologists. The functional MR urographyintra- and inter-reading agreements as well as the agreement between the two imaging techniques were calculated. SRF was evaluated by Area Under the Curve and Rutland-Patlak methods. Drainage curves were classified as normal, borderline or accumulation patterns by both the techniques. Results: Fifty-two children were studied, 14 with bilateral involvement. A total of 104 kidney-urinary tracts were considered: 38 normal and 66 dilated. Considering Area Under the Curve and Rutland-Patlak for SRF, the intra- and inter-reader agreements of functional MR urography had excellent and good results, respectively, and the two techniques demonstrated a good concordance (r2: 67% for Area Under the Curve and 72% for Rutland-Patlak). Considering drainage curves, the inter-readers agreement for functional MR urography and the concordance between the two techniques were moderate (Cohen's k, respectively, 55.7 and 56.3%). Conclusions: According to our results, there are no significant differences between functional MR urography and DRS in measuring volumetric SRF and in the classification of drainage curves in patients with congenital anomalies of the kidney and urinary tract.

Imaging of Childhood Vasculitis.

Pediatric vasculitides are rare conditions that can represent a diagnostic challenge because symptoms are usually aspecific and variable. Symptoms are related to the size of the involved vessel, extension of disease, and organs affected. The outcome is closely linked to an early diagnosis and proper treatment. Diagnostic imaging allows visualization of the involvement of large-size and medium-size vessels and assesses end-organ changes and response to therapy, thus playing a pivotal role in the diagnosis and treatment. This article explores the general features of pediatric vasculitis and discusses the imaging approach and the most common diagnostic findings.

Computerized tomography in pediatric oncology.

Computerized tomography (CT) is an extremely powerful imaging modality, which provides extremely valuable information for the diagnosis, staging, and management of pediatric solid tumors. In recent years, the concern of potential risks associated with ionizing radiation from diagnostic imaging - especially from CT - has greatly increased. In children with cancer the radiation burden from CT studies can easily accumulate because of repeated studies for disease staging, assessment of response to therapy, and follow up. The purpose of this article is to review the role of CT and its imaging key points for diagnosis, staging and planning surgical excision of common extracranial pediatric tumors, according to protocol specific imaging guidelines. The issue of the radiation burden from CT in children with cancer, and criteria of good practice to reduce it, will also be discussed.

A prospective observational study of associated anomalies in Hirschsprung's disease.

BACKGROUND: Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm. METHODS: After Institutional Ethical Committee approval, 106 consecutive Hirschsprung patients admitted to our Institution between January 2010 and December 2012 were included. All families were asked to sign a specific Informed Consent form and in case of acceptance each patient underwent an advanced diagnostic algorithm, including renal ultrasound scan (US), cardiologic assessment with cardiac US, cerebral US, audiometry, ENT and ophthalmologic assessments plus further specialist evaluations based on specific clinical features. RESULTS: Male to female ratio of our series of patients was 3,4:1. Aganglionosis was confined to the rectosigmoid colon (classic forms) in 74,5% of cases. We detected 112 associated anomalies in 61 (57,5%) patients. The percentage did not significantly differ according to gender or length of aganglionosis. Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% visual impairment, 20,7% congenital anomalies of the kidney and urinary tract, 4,7% congenital heart disease, 4,7% hearing impairment or deafness, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies. CONCLUSIONS: Our study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as hearing impairment and congenital anomalies of the kidney and urinary tract. Subsequently, based on our results we strongly suggest performing renal US and audiometry in all patients. Conversely, ophthalmologic assessment and cerebral and heart US can be performed according to guidelines applied to the general population or in case of patients with suspected clinical features or chromosomal abnormalities. This updated diagnostic algorithm aims at improving overall outcome thanks to better prognostic expectations, prevention strategies and early rehabilitation modalities. The investigation of genetic background of patients with associated anomalies might be the next step to explore this intriguing multifactorial congenital disease.

CT and MRI of paediatric Crohn disease.

Over the past two decades there has been considerable evolution in cross-sectional imaging modalities for the evaluation of Crohn disease (CD) in children. CT and MRI have contributed to conventional techniques so that now radiology has an even greater role in the management of CD, monitoring disease progression and detecting complications. The role of CT and MRI, their limitations, and the various imaging features that the radiologist should be aware of are discussed in this review.

Polyethylene glycol and contrast-enhanced MRI of Crohn's disease in children: preliminary experience.

OBJECTIVE: To assess the ability of MRI to detect bowel abnormalities in children affected by Crohn's disease (CD). MATERIALS AND METHODS: We studied 22 children (age range 8-18 years) referred to us with a known history of CD. MRI was carried out using a 1.5-T unit with a maximum gradient field strength of 16 mT and a phased-array body coil. The sequences performed were breath-hold coronal and axial T2-weighted, express fat saturation, followed by T1-weighted, spoiled gradient, fast fat saturation after IV injection of gadolinium chelate (0.3 mmol/kg) for contrast enhancement of the bowel wall. Bowel distension was achieved using oral administration of isosmotic polyethylene glycol solution. Ileo-colonoscopy was considered the gold standard for evaluation of superficial abnormalities and stenoses of the colon and terminal ileum. MRI findings of bowel-wall thickening, increased vascularisation and extramural involvement were compared with the findings using B-mode and Doppler US. Concordance between MRI and endoscopy, B-mode US and Doppler US findings was determined by the Kappa statistical method. RESULTS: Superficial lesions were not shown by MRI. MR enteroclysis easily detected stenoses, thickening and hyperaemia of bowel wall. Concordance of findings between MRI and endoscopy was 90% (K=0.79, substantial concordance). Concordance of findings between MRI and US concerning bowel-wall thickening and increased vascularisation was 95% (K=0.875, excellent concordance) and 80% (K=0.6, fairly good concordance), respectively. CONCLUSIONS: Our initial results show that MRI can detect intra- and extra-mural lesions of CD. The high concordance observed between MRI, endoscopy, US and Doppler US findings suggests that MRI is at least comparable for diagnostic capability with these techniques offering, thanks to multiplanar projections, an improved visualisation of the bowel without ionising radiation.