RESUMO
General lymphatic anomaly (GLA) is a very rare disorder, characterised by multifocal lymphatic malformations into various tissues that is due to congenital abnormalities of lymphatic development. No treatment has ever proved its efficiency.We report a 22-year-old man with recurrent bronchial casts due to thoracic involvement of GLA. After a 6-month treatment with sildenafil (20 mg three times a day), a phosphodiesterase 5 inhibitor, chest CT scan showed a complete regression of ground-glass opacities and lung function test results improved substantially and remained stable for 1 year. The treatment was well tolerated.This observation suggests that sildenafil may be a therapeutic approach to be tested in thoracic involvement of GLA.
Assuntos
Pneumopatias/congênito , Pneumopatias/tratamento farmacológico , Linfangiectasia/congênito , Linfangioleiomiomatose/tratamento farmacológico , Citrato de Sildenafila/uso terapêutico , Humanos , Pneumopatias/diagnóstico por imagem , Pneumopatias/patologia , Linfangiectasia/diagnóstico por imagem , Linfangiectasia/tratamento farmacológico , Linfangiectasia/patologia , Linfangioleiomiomatose/congênito , Linfangioleiomiomatose/diagnóstico por imagem , Anormalidades Linfáticas/diagnóstico por imagem , Masculino , Inibidores da Fosfodiesterase 5/uso terapêutico , Doenças Raras , Testes de Função Respiratória/métodos , Citrato de Sildenafila/administração & dosagem , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Adulto JovemRESUMO
A 5-month-old male infant presented with an increasing number of widespread asymptomatic violaceous cutaneous macules, papules, and nodules since birth. He is 1 of the 2 identical twins born to unrelated healthy parents. Histology revealed proliferation of dilated thin-walled vascular channels lined by bland endothelial cells in the dermis and subcutis. In some of the vascular channels, there were formations of intravascular papillae surrounded by hobnail endothelial cells. Immunohistochemistry demonstrated positive staining for CD31, CD34 factor VIII and vascular endothelial growth factor-3 (VEGFR-3) and negative staining for D2-40 and latencyassociated nuclear antigen-1 (LANA-1). The clinical and histologic findings were compatible with multifocal congenital lymphangioendothelionmatosis with thrombocytopenia, except that a year of follow-up was uneventful and no gastrointestinal bleeding or thrombocytopenia was recorded.
Assuntos
Linfangioleiomiomatose/congênito , Neoplasias Cutâneas/congênito , Pele/patologia , Biomarcadores Tumorais/análise , Biópsia , Proliferação de Células , Células Endoteliais/química , Células Endoteliais/patologia , Hemorragia Gastrointestinal/etiologia , Humanos , Imuno-Histoquímica , Lactente , Linfangioleiomiomatose/metabolismo , Linfangioleiomiomatose/patologia , Masculino , Pele/química , Neoplasias Cutâneas/química , Neoplasias Cutâneas/patologia , Trombocitopenia/etiologiaRESUMO
Chylous ascites is a rare case of peritonitis. We report here a case arising in a 21-year-old lady.
Assuntos
Ascite Quilosa/complicações , Peritonite/etiologia , Dor Abdominal/etiologia , Doença Aguda , Adulto , Apendicectomia , Ascite Quilosa/diagnóstico , Ascite Quilosa/cirurgia , Dieta com Restrição de Gorduras , Drenagem , Feminino , Febre/etiologia , Humanos , Neoplasias Renais/congênito , Neoplasias Renais/diagnóstico , Neoplasias Renais/dietoterapia , Laparoscopia , Linfangioleiomiomatose/congênito , Linfangioleiomiomatose/diagnóstico , Linfangioleiomiomatose/dietoterapia , Mesentério , Lavagem Peritoneal , Neoplasias Peritoneais/congênito , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/dietoterapia , Peritonite/diagnóstico , Peritonite/cirurgia , Neoplasias Esplênicas/congênito , Neoplasias Esplênicas/diagnóstico , Neoplasias Esplênicas/dietoterapia , Tomografia Computadorizada por Raios X , Triglicerídeos/uso terapêuticoRESUMO
Congenital disorders of the lymphatics of the lung are rare. On the basis of a literature review and our own experiences the disorders are divided into four groups and their radiographic findings are described. Pulmonary lymphangiectasia shows not typical signs. As an expression of the underlying pathophysiologic processes CT shows thickening of interlobular septs, interstitial edema and pleural effusions. Neither architectural distraction nor thickening of intralobular septs was seen. Lymphangioleiomyomatosis shows rather typical findings with multiple thin-walled bullae. In contrast to the opinion that architectural distraction is not seen in LAM we sometimes found signs of fibrosis. Disseminated pulmonary lymphangioma is characterised by proliferation of lymph vessels. CT-findings of this disorder have not been described before. CT shows multiple disseminated nodules of up to 2.5 cm accompanied by multiple bullae of similar distribution and size.
Assuntos
Pulmão/anormalidades , Sistema Linfático/anormalidades , Linfografia , Tomografia Computadorizada por Raios X , Humanos , Pulmão/diagnóstico por imagem , Pneumopatias/congênito , Pneumopatias/diagnóstico por imagem , Neoplasias Pulmonares/congênito , Neoplasias Pulmonares/diagnóstico por imagem , Linfangiectasia/congênito , Linfangiectasia/diagnóstico por imagem , Linfangioleiomiomatose/congênito , Linfangioleiomiomatose/diagnóstico por imagem , Linfangioma/congênito , Linfangioma/diagnóstico por imagemRESUMO
Systemic lymphangiomatosis is a rare disease characterized by the exageration of lymphatic channel proliferation, occurring in children and young adults. We describe an extremely rare case of congenital systemic lymphangiomatosis in a newborn who had ascitis and respiratory failure develop immediately after delivery. Death occurred during the first hour of life. Autopsy findings showed numerous cysts in soft tissues of the cervical area, mediastinum and diaphragm, and several other organs including the liver, spleen, thyroid and kidneys. The severe and diffuse involvement with cysts in both lungs by lymphangiomatosis was associated with poor prognosis and death in our case.
Assuntos
Humanos , Feminino , Recém-Nascido , Linfangioleiomiomatose/congênito , Evolução Fatal , Linfangioleiomiomatose/patologiaRESUMO
Systemic lymphangiomatosis is a rare disease characterized by the exageration of lymphatic channel proliferation, occurring in children and young adults. We describe an extremely rare case of congenital systemic lymphangiomatosis in a newborn who had ascitis and respiratory failure develop immediately after delivery. Death occurred during the first hour of life. Autopsy findings showed numerous cysts in soft tissues of the cervical area, mediastinum and diaphragm, and several other organs including the liver, spleen, thyroid and kidneys. The severe and diffuse involvement with cysts in both lungs by lymphangiomatosis was associated with poor prognosis and death in our case.