RESUMO
Oral-facial-digital syndrome type I is a group of X-linked dominant conditions, lethal in utero in male individuals. Internal anomalies are less well documented than are external findings. We report a case of typical phenotype and absent family history of kidney disease in a 15-year-old white girl (46,XX) who died of renal failure and massive cerebral hemorrhage. At necropsy, the kidneys were greatly enlarged but of fairly normal shape. The cortex was replaced by thin-walled spherical cysts, 0.5 to 2.0 cm in diameter; the majority of the smaller cysts were located deep in the cortex, and the medulla contained lesser numbers of larger cysts. No distal urinary tract obstruction was present. Microdissection revealed cysts and diverticula located in all segments of the nephrons and collecting ducts. Uninvolved nephrons showed diffuse hypertrophy. These findings were correlated with immunoperoxidase stains using peanut lectin, Lotus tetragonolobus agglutinin, antibodies to cytokeratins, stage-specific embryonic antigen-1, Tamm-Horsfall protein, and epithelial membrane antigen. Other visceral anomalies included biliary cystadenomatous proliferation in the liver and pancreatic cysts. The renal changes are similar to those of autosomal dominant (adult-type) polycystic disease.
Assuntos
Neoplasias dos Ductos Biliares/complicações , Cistadenoma/complicações , Síndromes Orofaciodigitais/complicações , Cisto Pancreático/complicações , Doenças Renais Policísticas/complicações , Adolescente , Dissecação/métodos , Feminino , Humanos , Imuno-Histoquímica , Rim/patologia , Síndromes Orofaciodigitais/metabolismo , Síndromes Orofaciodigitais/patologia , Doenças Renais Policísticas/patologiaRESUMO
An isolated marked transient rise in serum alkaline phosphatase levels in otherwise healthy children is a well-documented occurrence. However, in children undergoing liver transplantation, elevated alkaline phosphatase values raise the possibility of biliary obstruction, rejection, or both. During a 6-year period, 6 of 278 children undergoing liver transplantation exhibited a similar phenomenon as an isolated abnormality. None had rejection, biliary obstruction, or other allograft dysfunction during a long follow-up. Eventually and without intervention, the alkaline phosphatase levels returned to normal. These instructive cases suggest that caution be used in advocating invasive procedures if elevated alkaline phosphatase levels are an isolated abnormality, and close observation with noninvasive testing is recommended.
Assuntos
Fosfatase Alcalina/sangue , Transplante de Fígado , Criança , Pré-Escolar , Colestase/diagnóstico , Feminino , Seguimentos , Rejeição de Enxerto , Humanos , Masculino , Período Pós-OperatórioAssuntos
Doença da Arranhadura de Gato/complicações , Hepatopatias/etiologia , Esplenopatias/etiologia , Doença da Arranhadura de Gato/diagnóstico , Pré-Escolar , Granuloma/etiologia , Humanos , Hepatopatias/diagnóstico por imagem , Hepatopatias/patologia , Doenças Linfáticas/etiologia , Masculino , Esplenopatias/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
During the past several years, we treated seven children with Kawasaki disease who developed a distinctive but rarely described perineal rash. This rash began three to four days from onset of the illness and desquamated in all instances by days 5 to 7. The presence of this rash may facilitate early diagnosis of Kawasaki disease and, hence, may influence the initiation of early treatment.
Assuntos
Exantema/etiologia , Síndrome de Linfonodos Mucocutâneos/complicações , Períneo , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Síndrome de Linfonodos Mucocutâneos/patologiaAssuntos
Centros Médicos Acadêmicos , Pediatria , Encaminhamento e Consulta , Criança , Humanos , Pennsylvania , Papel do MédicoRESUMO
Cerebral CT performed in patients with Wilson disease (hepatolenticular degeneration) often reveals abnormalities of the putamen, globus pallidus, thalamocapsular region, cerebral cortex, dentate nucleus, and brain stem. We report a patient with Wilson disease who demonstrated rapid reversal of CT abnormalities following orthotopic liver transplantation.
Assuntos
Encéfalo/diagnóstico por imagem , Degeneração Hepatolenticular/terapia , Transplante de Fígado , Tomografia Computadorizada por Raios X , Encéfalo/patologia , Criança , Degeneração Hepatolenticular/patologia , Humanos , MasculinoRESUMO
Between March 3, 1981, and June 1, 1984, 216 children were evaluated for orthotopic liver transplantation. Of the 216 patients, 117 (55%) had received at least one liver transplant by June 1, 1985. Fifty-five (25%) died before transplantation. The 117 patients who received transplants were grouped according to severity of disease and degree of general decompensation at the time of transplantation. The severity of a patient's medical condition with the possible exception of deep hepatic coma, did not predict outcome following orthotopic liver transplantation. Seventy variables were assessed at the time of the evaluation. Twenty-three of the 70 variables were found to have prognostic significance with regard to death from progressive liver disease before transplantation. These 23 variables were incorporated into a multivariate model to provide a means of determining the relative risk of death among pediatric patients with end-stage liver disease. This information may allow more informed selection of candidates awaiting liver transplantation.
Assuntos
Transplante de Fígado , Assistência Ambulatorial , Pré-Escolar , Feminino , Seguimentos , Encefalopatia Hepática/etiologia , Hospitalização , Humanos , Lactente , Unidades de Terapia Intensiva , Hepatopatias/mortalidade , Hepatopatias/fisiopatologia , Hepatopatias/cirurgia , Hepatopatias/terapia , Masculino , Modelos Biológicos , Prognóstico , Fatores de RiscoRESUMO
The new immunosuppressive agent, cyclosporin A, was used with low doses of steroids to treat eight patients undergoing hepatic transplantation and three patients undergoing cadaveric renal transplantation. Seven of the eight liver recipients are well, including one who was given two livers. The three kidney recipients who had developed cytotoxic antibodies after previously rejecting grafts with conventional immunosuppressive therapy, have had good results despite conditions which usually preclude attempts at transplantation. The ability to control rejection effectively and safely without chronic high-dose steroid therapy may make the described therapeutic regimen valuable for pediatric recipients of whole organs.