Paratesticular Fibrous Pseudotumor in Children: A Case Report and Review of Literature.

BACKGROUND: Paratesticular fibrous pseudotumor (PFP) is a rare benign tumor that can mimic malignant tumors; thus, radical orchiectomy was the standard treatment in the past. OBSERVATION: A 15-year-old boy came to our attention for a hard right inguinal swelling. An ultrasound showed a highly vascularized mass. The boy underwent a gonadal-sparing excision of the mass that was diagnosed to be a PFP. The patient recovered well, without recurrences at the follow-up. CONCLUSIONS: PFP is mostly asymptomatic, and its diagnosis is incidental. Only further 4 pediatric cases were reported in the literature. Our case confirms that gonadal-sparing surgery is an optimal treatment.

Headache and comorbidity in children and adolescents.

Headache is one of the most common neurological symptom reported in childhood and adolescence, leading to high levels of school absences and being associated with several comorbid conditions, particularly in neurological, psychiatric and cardiovascular systems. Neurological and psychiatric disorders, that are associated with migraine, are mainly depression, anxiety disorders, epilepsy and sleep disorders, ADHD and Tourette syndrome. It also has been shown an association with atopic disease and cardiovascular disease, especially ischemic stroke and patent foramen ovale (PFO).

Spontaneous regression of cystic dysplasia of the rete testis in an 18-month-old boy: the key role of ultrasonography.

Cystic dysplasia of the rete testis (CDT) is a rare cause of scrotal swelling in children. It is a congenital disorder and it can be associated with other genitourinary abnormalities. At present, there is no clear consensus on treatment. Surgical approach has traditionally been the treatment of choice, while, more recently, conservative approach has been applied, justified by the benign nature of the lesion and after few cases of spontaneous regression have been documented. Ultrasonography, supported by negative tumor markers, plays a key role in the diagnostic work up and during observational follow-up. We report a further case of spontaneous regression of suspected CDT in an 18-month-old boy, who has been followed with clinic and ultrasonographic checks.

Contrast-enhanced ultrasonography (CEUS) in the follow-up of pediatric abdominal injuries: value and timing.

AIMS: Primary aim was to investigate the value and safety of contrast-enhanced ultrasonography (CEUS) during follow-up (FU) of splenic, hepatic and renal post-traumatic injuries in a pediatric population. Secondary aim was to extrapolate appropriate timing of FU-CEUS. METHODS: In a retrospective study, post-traumatic parenchymal injuries diagnosed with CT or CEUS, were subjected to non-operative management and followed with CEUS. RESULTS: Forty-six patients were enrolled, with isolated or combined injuries, for a total of 30 splenic, 15 hepatic and 12 renal injuries. At admission 42/46 patients underwent CT and 4/46 underwent CEUS. During FU a total of 65 CEUS were performed: 16 within 72 h to check delayed active bleeding or parenchymal rupture; 24 between 5 and 10 days post admission, to pose indication to active mobilization or to discharge; 21 between 20 and 60 days post admission to document complete healing of the lesion or pose indication to discharge in most severe injuries. No complications related to CEUS were encountered. CONCLUSIONS: CEUS is valuable and safe to follow patients with post-traumatic abdominal injuries, even if further data are needed for renal injuries. We propose a tailored approach based on injury grade and clinical course: in the first 3 days only in case of delayed bleeding or rupture suspect; between 5 and 10 days post trauma to ensure a safe active mobilization and/or pose indication to discharge, and over 20-30 days post trauma to pose indication to discharge in most severe injuries or document complete healing and permit return to sport activities.

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.

BACKGROUND: Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders. METHODS: We describe the use of high-resolution genome-wide tilepath microarrays and comparative genomic hybridization to identify copy number variants within 119 probands from multiplex autism families. We next carried out DNA methylation analysis by bisulfite sequencing in a proband and his family, expanding this analysis to methylation analysis of peripheral blood and temporal cortex DNA of autism cases and matched controls from independent datasets. We also assessed oxytocin receptor (OXTR) gene expression within the temporal cortex tissue by quantitative real-time polymerase chain reaction (PCR). RESULTS: Our analysis revealed a genomic deletion containing the oxytocin receptor gene, OXTR (MIM accession no.: 167055), previously implicated in autism, was present in an autism proband and his mother who exhibits symptoms of obsessive-compulsive disorder. The proband's affected sibling did not harbor this deletion but instead may exhibit epigenetic misregulation of this gene through aberrant gene silencing by DNA methylation. Further DNA methylation analysis of the CpG island known to regulate OXTR expression identified several CpG dinucleotides that show independent statistically significant increases in the DNA methylation status in the peripheral blood cells and temporal cortex in independent datasets of individuals with autism as compared to control samples. Associated with the increase in methylation of these CpG dinucleotides is our finding that OXTR mRNA showed decreased expression in the temporal cortex tissue of autism cases matched for age and sex compared to controls. CONCLUSION: Together, these data provide further evidence for the role of OXTR and the oxytocin signaling pathway in the etiology of autism and, for the first time, implicate the epigenetic regulation of OXTR in the development of the disorder.See the related commentary by Gurrieri and Neri: http://www.biomedcentral.com/1741-7015/7/63.

Prenatal and postnatal urinary tract dilation: advantages of a standardized ultrasound definition and classification.

Urinary tract dilatation is identified sonographically in 1-2% of fetuses and reflects a spectrum of possible nephro-uropathies. There is significant variability in the clinical management of individuals with prenatal urinary tract dilatation to postnatal urinary pathologies, because of a lack of consensus and uniformity in defining and classifying urinary tract dilation. Ultrasonography is the first step to screen and diagnose kidneys and the urinary tract diseases of the children. The need for a correct ultrasound approach led to the realization of algorithms aimed at standardizing the procedures, the parameters and the classifications. Our objective was to highlight the strengths of the Classification of Urinary Tract Dilation (UTD) suggested by the Consensus Conference which took place in 2014 with the participation of eight Scientific Societies and was subsequently published on the Journal of Pediatric Urology. Before its spread out, the definition of UTD was not uniform and the ultrasonographic measurements were not clearly defined, leading to misunderstandings between physicians. The Classification by the Consensus Conference of 2014 represents a revolutionary tool for the diagnosis and management of UTD. Furthermore, the parameters suggested by the classification proposed are applicable for both prenatal and postnatal classification, ensuring a correct follow-up in children with UTD whose diagnosis had been already made during pregnancy.

Unilateral Papillary Cystadenoma of the Epididymis as a First Presentation of Von Hippel-Lindau Disease.

Association between papillary cystadenoma of the epididymis (PCE) and Von Hippel-Lindau Disease (VHLD) is well known and stronger for bilateral tumors. Unilateral PCE occurs either as a sporadic tumor without evidence of VHLD or in the context of a known diagnosis of VHLD, indeed it has never been reported as the first manifestation of VHLD. In contrast, we report the case of a boy with an apparently isolated, unilateral PCE that resulted to be the first manifestation of an unknown VHLD. Thus, we recommend screening for VHLD in patients with a new diagnosis of unilateral PCE, especially if the patients are young.

Testicular teratoma, mimicking a simple testicular cyst, in an infant.

Prepubertal testicular tumors are rare, and teratoma is the second most frequent histologic type. Its typical features are those of a hard and painless scrotal mass at clinical examination, and nonhomogeneous, echoic, often with calcifications at ultrasonography. Rare but reported is the atypical presentation as a transilluminating scrotal mass, due to the presence of some internal cystic areas, detectable at ultrasonography. We report the case of an infant with a transilluminating scrotal mass, mimicking at ultrasonography and surgery a simple, fully liquid cyst, which the pathologic examination revealed to be mature cystic testicular teratoma.