RESUMO
PURPOSE: Renal vein thrombosis (RVT) is a rare cause for pediatric surgical consultation. The purpose of this study is to review the Montreal experience in the 1990s with RVT. METHODS: A retrospective chart review was conducted from 1990 through 1999. RESULTS: Twenty-three cases were identified by Duplex ultrasound scan. Mean length of follow-up was 42 months. Eighty-three percent (83%) of cases were diagnosed within the first month of life. In utero thrombosis was suspected in 22% and was associated with caval thrombosis and factor V Leiden. Known risk factors were present in 87%. The "diagnostic triad" of flank mass, gross hematuria, and thrombocytopenia was present in only 13% at the time of diagnosis. Long-term renal function impairment was detected in 100% of those who did not receive heparin, and in 33% of those who did receive heparin. No patient required dialysis. One patient required nephrectomy for recurrent pyelonephritis. CONCLUSIONS: RVT occurs more commonly than anticipated. Because the "classic" triad of signs usually is absent at presentation, the presence of either a flank mass, hematuria, or thrombocytopenia in a patient with risk factors should prompt investigation for RVT. Factor V Leiden is a risk factor for in utero RVT. Anticoagulation improves renal outcome. Patients with RVT require long-term follow-up.
Assuntos
Veias Renais , Trombose Venosa/epidemiologia , Adolescente , Distribuição por Idade , Anticoagulantes/administração & dosagem , Feminino , Seguimentos , Humanos , Incidência , Recém-Nascido , Masculino , Quebeque/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Taxa de Sobrevida , Trombose Venosa/diagnóstico , Trombose Venosa/tratamento farmacológicoRESUMO
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous polyposis condition with features of macrocephaly, intestinal juvenile polyposis, developmental delay, lipomas, and pigmentation spots of the male genitalia. An autosomal dominant pattern of inheritance exists in some families, but others appear as sporadic cases. Germ-line mutations in PTEN, a tyrosine phosphatase and putative tumor suppressor gene, have been demonstrated in two families with BRRS, and chromatin loss at the PTEN gene locus on chromosome 10q23 has been demonstrated in two BRRS patients. Germ-line mutations in PTEN have also been described in Cowden disease and in a small number of patients with juvenile polyposis syndrome. In an attempt to assess the nature of PTEN mutations in BRRS, we analyzed three sporadic BRRS patients for chromosome 10q23 deletion or PTEN germ-line mutations. All 3 patients demonstrated no loss of parental alleles at 15 chromosome 10q23 markers that encompassed the region of PTEN. In addition, analysis of mRNA and genomic DNA revealed no nonsense, missense, or insertion/deletion mutations of PTEN. Thus, other mechanisms besides mutation of PTEN must have occurred to cause BRRS in these patients. We speculate that BRRS and juvenile polyposis syndrome may have a heterogeneous etiology to cause their syndromes.
Assuntos
Mutação em Linhagem Germinativa/genética , Síndrome do Hamartoma Múltiplo/genética , Pólipos Intestinais/genética , Monoéster Fosfórico Hidrolases , Transtornos da Pigmentação/genética , Proteínas Tirosina Fosfatases/genética , Proteínas Supressoras de Tumor , DNA/genética , Deficiências do Desenvolvimento/genética , Humanos , Masculino , PTEN Fosfo-Hidrolase , RNA Mensageiro/genética , SíndromeRESUMO
BACKGROUND & AIMS: Bannayan-Riley-Ruvalcaba syndrome is a congenital syndrome with characteristic features of macrocephaly, cognitive and motor dysfunction, subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis. It has been suggested that Bannayan-Riley-Ruvalcaba syndrome may be a variant of juvenile polyposis coli because of the shared features of intestinal juvenile polyps. The aim of this study was to precisely map loss of DNA from 2 patients with intestinal juvenile polyposis and karyotypic abnormalities involving chromosome 10q. METHODS: DNA was extracted from peripheral leukocytes drawn from each patient and each patient's biological parents. The DNA was amplified by polymerase chain reaction using primers specific for microsatellites located on chromosome 10q. RESULTS: Precise mapping localized a maximal distance of 1.0 cM that was commonly deleted from each patient's genome, between D10S541 and D10S1735. This area overlaps the region for Cowden disease, a distinct hamartomatous intestinal polyposis syndrome with increased risk of breast and thyroid carcinoma. CONCLUSIONS: The three hamartomatous polyposis syndromes, Bannayan-Riley-Ruvalcaba syndrome, juvenile polyposis coli, and Cowden disease, may share the same genetic defect because of their common map localization to chromosome 10q23.
Assuntos
Polipose Adenomatosa do Colo/genética , Encéfalo/anormalidades , Mapeamento Cromossômico , Cromossomos Humanos Par 10 , Transtornos Cognitivos/genética , Lipoma/genética , Feminino , Genes Supressores de Tumor , Mutação em Linhagem Germinativa , Humanos , Masculino , Proteínas Tirosina Fosfatases/genética , SíndromeRESUMO
We present a case of a boy with potential high-voltage electrical injury. The patient sustained electrical injuries after his kite became entangled in a high-power electrical line. He presented to the emergency department with minor external electrical burns and frequent premature ventricular contractions (PVCs). The patient's clinical course is outlined. A discussion of the epidemiology of high-voltage electrical injury in children and the clinical management of electrical-injury-induced cardiac complications is provided. Although cardiac abnormalities are found in a significant proportion of high-voltage electrical injuries, the vast majority are evident within 12 h, resolve spontaneously within a few days, and cause little or no long-term sequelae. A small proportion of normal children have clinically benign PVCs.
