Front Pediatr
January 2020
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). 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.
View Article and Find Full Text PDFA 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.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
January 2018
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.
Radiol Clin North Am
September 2017
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.
View Article and Find Full Text PDFObjectives: 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 β-haemolytic streptococcus infection.
View Article and Find Full Text PDFCongenital 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.
View Article and Find Full Text PDFBackground: 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.
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.
View Article and Find Full Text PDFPediatr Radiol
September 2012
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.
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.
View Article and Find Full Text PDFComputerized 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.
View Article and Find Full Text PDFOver 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.
View Article and Find Full Text PDFObjective: 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.