1 Abr La neurofibromatosis o enfermedad de Von Recklinghausen fue descrita por primera vez en por Friedrich Daniel Von Recklinghausen. Luis Iglesias Olivaa, Marta Hernández Fernándeza, Héctor Alonso Valleb, Olga Acha Salazara, María del Rocío Pérez Montesa, Francisco Javier Novo Robledo . Meningocele intratorácico en la enfermedad de Von Recklinghausen. Presentación de un caso. Intrathoracic meningocele in Von Recklinghausen’s disease.

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In VRD, a mutation occurs on the neurofibromin gene, causing an increase in the development of cancerous and noncancerous tumors. November Pages Los criterios en el diagnistico fueron establesidos por la Nationl Institutes of Health en All manuscripts are sent to peer-review and handled by the Editor or an Associate Editor from the team.

Jorge Service of Gastroenterology. E-mail address rosanabixi7 hotmail. Present to your audience Start remote presentation.

Rev Fac Med Unal [online]. Anatomy, histology, embriology, developmental anomalies, and pediatric disorders of the biliary tract.

Neurofibromatosis tipo 1 o enfermedad de von Recklinghausen. | Medicina Clínica

We present the case of a year-old male with splenomegaly, leukopenia and thrombocytopenia, esophageal varices, and a histopathological diagnosis of congenital hepatic fibrosis. The lesion crossed the ee, and extended to soft palate and buccal vestibule.


Show more Show less. Previous article Next article. Introduction Von Recklinghausen disease VR or neurofibromatosis type I NF1 is an autosomal dominant disorder characterized by the propensity to form ectodermal and mesodermal tissue tumours, 1 affecting primarily the nervous system and the skin.

Conflict of interest There is no conflict of interest. People with VRD may have large tumors on the body. Clinical approach of phenotype variants in neurofibromatosis type 1. Chiasmal glioma in neurofibromatosis tipe I with severe visual loss regained with radiation. Bronchiectasis causes symptoms like chronic coughing, coughing up blood, wheezing, and shortness of breath.

En Goldman L, Ausiello D. Adults require regular screening for cancer caused by the tumors. Exceptionally, some cases have been described of altered sensitivity to neuromuscular blockers, 1 giving rise to prolonged episodes of apnea of unexplained mechanism. This group of diseases would present an alteration in the interaction between cells and the extracellular matrix, which would interfere with the process of involution and remodelling of the ductal plate, and would thus induce the alterations observed in these conditions 10, VRD is a complex illness.


It is unusual that the first professional to seek the diagnoses of neurofibromatosis type 1 is from Dentistry area. We describe a patient with type I neurofibromatosis and intrathoracic meningocele.

Fibrosis hepática congénita asociada a enfermedad de von Recklinghausen

There were scattered mast cells within the connective tissue. Therefore, the submission of manuscripts written in either Spanish recklinghauzen English is welcome. Ethics committee The study was approved by the ethics committee.

Hepatology a Textbook of Liver Disease. Neurofibromatosis Type snfermedad is diagnosed on the basis of a series of clinical criteria, defined by the presence of bilateral vestibular schwannomas leading to hearing loss, 5 cataracts, and central nervous system involvement, such as menin-gioma.

Von Recklinghausen’s Disease (Neurofibromatosis 1)

Gingival affectation is rare. The patient evolves favorably with periodical medical follow-up. This fibrosis would affect venous resistance in portal branches, thus developing portal hypertension. Removal of visible tumors on the skin can help with self-esteem.