RESUMO
: For patients with hepatoblastoma, a timely and complete resection of the tumor is critical to the patient's tumor recurrence-free survival. Associating liver partition and portal vein ligation for staged hepatectomy (ALPPS), a 2-stage hepatectomy procedure, has revolutionized the surgical management of large hepatic tumors with insufficient future liver remnant (FLR) at presentation. Although existing data support the utility of ALPPS in adults with primary and metastatic hepatobiliary malignancy, the literature in children is scarce. To our knowledge, this is the first report showing clinical applicability and safety of the modified ALPPS procedure in a small infant (54 days old) with hepatoblastoma who presented with insufficient FLR. Our report suggests the modified ALPPS could potentially expand the surgical treatment alternative for small infants with large hepatoblastoma.
Assuntos
Hepatectomia/métodos , Hepatoblastoma/cirurgia , Neoplasias Hepáticas/cirurgia , Veia Porta/cirurgia , Humanos , Lactente , Recém-Nascido , Ligadura/métodos , Masculino , Resultado do TratamentoRESUMO
Primary cardiac sarcomas are rare and carry a poor prognosis. The standard of care is complete resection. Outcomes for patients without complete resection are dismal, and the benefit of adjuvant therapy is uncertain. A 9-year-old girl presented with a large right-sided cardiac mass. After biopsy, the tumor was classified as an undifferentiated sarcoma. Resection was not feasible due to apparent invasion of the right ventricle and atrioventricular groove. Treatment with oral etoposide resulted in a 97% reduction in tumor volume and allowed for complete resection of residual tumor. She is alive with no evidence of disease 25 months from diagnosis.
Assuntos
Antineoplásicos Fitogênicos/administração & dosagem , Etoposídeo/administração & dosagem , Neoplasias Cardíacas/tratamento farmacológico , Sarcoma/tratamento farmacológico , Administração Oral , Biópsia , Criança , Feminino , Neoplasias Cardíacas/patologia , Humanos , Indução de Remissão , Sarcoma/patologiaAssuntos
Fusão Gênica , Glioma/genética , Neoplasias de Tecido Nervoso/genética , Proteínas Proto-Oncogênicas B-raf/genética , Deleção de Sequência , Neoplasias da Medula Espinal/genética , Adolescente , Pré-Escolar , Feminino , Seguimentos , Glioma/diagnóstico por imagem , Glioma/metabolismo , Glioma/patologia , Humanos , Masculino , Gradação de Tumores , Neoplasias de Tecido Nervoso/diagnóstico por imagem , Neoplasias de Tecido Nervoso/metabolismo , Neoplasias de Tecido Nervoso/patologia , Medula Espinal/diagnóstico por imagem , Medula Espinal/metabolismo , Medula Espinal/patologia , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/metabolismo , Neoplasias da Medula Espinal/patologia , Adulto JovemAssuntos
Febre , Pele/patologia , Síndrome de Sweet/diagnóstico , Exantema/etiologia , Humanos , Lactente , MasculinoRESUMO
Marfan syndrome is a well-described autosomal dominant syndrome with widely variable clinical manifestations. Cardiovascular complications include mitral valve prolapse with or without associated mitral valve insufficiency, aortic root dilatation, and most importantly the occasional development of aortic aneurysms or rupture. Given the inconsistent phenotype along with the potentially life-threatening implications, clinicians are increasingly turning to genetic testing for definitive diagnostic confirmation. It has been well established that mutations in the FBN1 gene encoding the structural protein Fibrillin 1 is the molecular etiology of Marfan syndrome. However, there are numerous patients who meet the Ghent clinical diagnostic criteria for Marfan syndrome who do not have identifiable FBN1 mutations. Recently, mutations in TGFBR1 and TGFBR2 (transforming growth factor beta receptors 1 and 2, respectively) have been shown to result in Loeys-Dietz syndrome, a connective tissue disorder with significant phenotypic overlap with Marfan syndrome. Individuals with this Marfanoid disorder lack the ocular findings of Marfan syndrome and often have dysmorphic features such as unusual facies, cleft palate, and contractures. In addition, Loeys-Dietz syndrome patients often present in childhood with significant cardiovascular problems. This article serves to report an illustrative case of Loeys-Dietz syndrome and reviews the phenotypic consequences of FBN1 and TGFBR1 and TGFBR2 gene mutations.
Assuntos
Síndrome de Marfan/genética , Proteínas dos Microfilamentos/genética , Proteínas Serina-Treonina Quinases/genética , Receptores de Fatores de Crescimento Transformadores beta/genética , Aorta/patologia , Criança , Códon sem Sentido , Análise Mutacional de DNA , Dilatação Patológica , Proteínas da Matriz Extracelular , Feminino , Fibrilina-1 , Fibrilinas , Humanos , Imageamento por Ressonância Magnética , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/cirurgia , Mutação , Fenótipo , Receptor do Fator de Crescimento Transformador beta Tipo I , Receptor do Fator de Crescimento Transformador beta Tipo IIRESUMO
We report a case of a patient who received a bilateral lung transplant for end-stage lung disease secondary to Gauchers type-1 disease with no evidence of recurrence of the disease in the transplanted lung.
Assuntos
Doença de Gaucher/complicações , Doenças Pulmonares Intersticiais/cirurgia , Transplante de Pulmão , Comorbidade , Feminino , Doença de Gaucher/classificação , Doença de Gaucher/epidemiologia , Doença de Gaucher/fisiopatologia , Glucosilceramidase/uso terapêutico , Humanos , Lactente , Doenças Pulmonares Intersticiais/epidemiologia , Doenças Pulmonares Intersticiais/etiologiaRESUMO
Abnormalities have been reported in the medullary arcuate nucleus (ARCN) in unexpected late fetal death. They speculated that this developmental anomaly may underlie cardioventilatory abnormalities intrapartum and postpartum. This article describes a case of an unexpected late fetal death associated with absence of the ARCN.