The association of pleuropulmonary blastoma and cystic nephroma is an uncommon entity, with only 4 cases of such an association in the same patient described in English literature. We report a 5th ...histologically documented case in a 32-month-old boy. The boy underwent a pulmonary biopsy that showed a pleuropulmonary blastoma and a nephrectomy that showed a cystic nephroma. The pleuropulmonary mass showed an important regression with postbiopsy chemotherapy, allowing subsequent tumorectomy. To date very little is known about this rare entity, and a genetic link between these 2 tumors is hypothesized.
Cystic dyplasia of the rete testis (CDRT) is an uncommon, generally unilateral lesion characterized by anastomosing cystic spaces lined by a flattened simple cuboidal epithelium in the rete testis. ...In the literature this lesion often is associated with an ipsilateral urogenital lesion such as renal agenesia or multicystic dysplasia of the kidney, in order of frequency. The pathogenesis is explained by some authors by their common embryologic origin. We are reporting the finding of bilateral CDRT associated with ultrasound-diagnosed renal adysplasia in a 20-week gestational age fetus with oligohydramnios. Although CDRT has been referred to as being associated with multicystic renal dysplasia or renal agenesis, the present case appears to be unique in combining all the malformations together.
Congenital/infantile fibrosarcoma (IFS) is a relatively rare form of fibrosarcoma diagnosed at birth or during early years of life and that differs from its adult counterpart because of a more ...favorable behavior. IFS is also known as cellular congenital mesoblastic nephroma, when it affects the kidney and is often but not always characterized by the
ETV6
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NTRK3
fusion transcript. We report herein the first series of an exceptional tumor of the small intestine occurring in newborns. The four patients shared a stereotyped clinico-pathological presentation with early and acute onset, intestinal perforation, and an infiltration by a highly cellular spindle cell tumor within the dilated intestinal wall exhibiting pathologic features typical of IFS. Molecular studies for the ETV6-NTRK3 translocation were negative in the three cases tested. Patients were treated by surgical wide resection alone and are alive and well (follow-up: 36 months–25 years). Thus, this new clinico-pathological entity, even with lack of documented evidence of the
ETV6
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NTRK3
translocation, should be included in the differential diagnosis of congenital bowel perforation or obstruction and may represent an intestinal counterpart of IFS.
Hepatitis B virus (HBV) infections are responsible for the development of chronic hepatitis in 400 million people worldwide. Currently, no consensus exists as to when treatment should be initiated ...for pediatric patients.
To evaluate the risks and predictive factors of success of lamivudine treatment in children with chronic, active HBV infection.
Forty-three children (22 male, median age 9.6 years) chronically infected with HBV and treated between 1998 and 2008 at CHU Ste-Justine (Montreal, Quebec) were included in the present chart review study. Inclusion criteria were detectable hepatitis B surface antigen and hepatitis B e antigen (HBeAg), minimum serum alanine aminotransferase (ALT) level of two times the upper limit of normal and detectable serum HBV DNA for at least three months. Patients received lamivudine for a minimum of six months (median 14 months). Genotyping was performed.
Lamivudine treatment was effective in 35% of cases (15 of 43) and overall virological response (during or after treatment) was achieved in 51% of patients. Three patients harboured suspected lamivudine-resistant mutations and five progressed to HBeAg-chronic HBV. Predictive factors for success of treatment were: younger age at beginning of treatment (P=0.05), elevated ALT levels throughout treatment duration (P=0.003) and loss of HBeAg during treatment (P=0.016). Asian origin did not affect treatment success or spontaneous viral control during follow-up. HBV genotype did not influence treatment success.
Lamivudine treatment in a carefully selected cohort of HBV patients demonstrated a good rate of success and low incidence of mutation. Younger age at the beginning of treatment and high ALT levels during treatment predicted a positive outcome.
Introduction Malignant rhabdoid tumor (MRT) is defined as a high-grade sarcoma derived from an uncertain cell of origin. Its diagnosis is associated with poor prognosis and patient's life expectancy ...is greatly reduced. Material and method Here, we describe a unique case of 9-month-old boy who presented with a large MRT arising from the soft tissue of the neck. Following intensive multimodal treatment, the patient benefited from a 25 years' remission until the discovery of multiple liver metastases. Conclusion MRT of soft tissue needs to be distinguished from other soft tissue neoplasms, as MRT is highly aggressive and is usually associated with a poor outcome. In addition, this is the longest remission time reported in a patient with soft tissue MRT and this might be related to the use of early intensive multimodal treatments.
Late complications of esophageal atresia (EA), particularly esophagitis and Barrett's esophagus, are increasingly being recognized. With the exception of patients with dysphagia associated with ...esophageal stricture, it is unknown whether patient symptomatology can predict endoscopic findings.
Data regarding the digestive symptoms of patients who were referred to the EA multidisciplinary clinic from October 2005 to October 2008, and underwent upper gastrointestinal endoscopic evaluation, were systematically collected. Macroscopic and histological findings were analyzed. Endoscopy was considered normal if no esophagitis, intestinal metaplasia or gastric metaplasia (GM) was discerned.
Sixty-three patients underwent endoscopy. Eighteen had dysphagia related to an esophageal stricture needing dilation and were subsequently excluded from the analysis. Forty-five patients (26 girls) with a median age of 7.3 years (range 0.4 to 17.9 years) were evaluated. Twenty-six patients (58%) were normal at endoscopy, 14 patients (31%) had esophagitis and 16 patients (36%) had GM. No intestinal metaplasia or adenocarcinoma was detected. Six patients with abnormal endoscopy results were asymptomatic. No correlation between digestive symptoms and endoscopy results was found.
The present cross-sectional study showed that symptomatology was not predictive of abnormal endoscopy in EA patients. Esophagitis or GM may be discovered, even in the absence of symptoms, suggesting that physicians cannot rely solely on symptomatology to accurately evaluate the extent of these esophageal complications in this population.
Neonatal cystic disorders of the lungs are a heterogeneous malformative group including giant lobar hyperinflation, congenital pulmonary airway malformations, intralobar pulmonary sequestration, and ...bronchogenic cyst. Here, we describe a giant cystic pulmonary malformation in a 5-year-old girl, morphologically characterized by a highly disorganized proliferation of numerous cartilage islands, abundant mesenchymal tissue with abundant adipose differentiation, and epithelium-lined cysts. Cytogenetic analysis revealed an isolated trisomy 8, as the sole karyotype anomaly, a finding further confirmed by a whole-genome single nucleotide polymorphism array genotyping. The trisomy 8 was observed by fluorescent in situ hybridization within the malformation, and also in adjacent pulmonary parenchyma. A search of the literature revealed only 2 cases having similarities with the present case, but bearing different names. We believe that this lesion differs from congenital pulmonary airway malformations and from adult-type pulmonary hamartomas. We propose for this malformative mass the name "chondroid cystic malformation of the lung."
Caudal dysgenesis (CD) constitutes a heterogeneous spectrum of congenital caudal anomalies, including varying degrees of agenesis of the vertebral column, as well as anorectal and genitourinary ...anomalies. Sirenomelia, characterized by a fusion of the lower limbs, could represent the most severe end of this spectrum. The two main debated pathogenic hypotheses are an aberrant vascular supply versus a primary axial mesoderm defect. We present the autopsy findings of two fetuses of non-diabetic mothers, with normal karyotype. Both fetuses presented situs inversus associated with a CD, in one case consisting of sirenomelia, establishing a very rare association profile that might be random. This association also suggests the occurrence of a common pathogenic mechanism, in accordance to recent genetic data, such as displayed in the Kif3A murine mutation phenotype. Some cases of sirenomelia and CD could represent developmental field defects of blastogenesis involving the caudal mesoderm, rather than being related to vascular insufficiency.
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