RESUMO
A 6 year-old boy with von Hippel-Lindau (VHL) disease presented with hypertension due to bilateral pheochromocytomas. At age 13 he developed a renal carcinoma and bilateral paragangliomas. His mother had retinal angiomas, bilateral pheochromocytomas and a cerebellar hemangioblastoma. This unusual presentation illustrates the complexity and difficulties associated with the management of VHL disease.
Assuntos
Neoplasias das Glândulas Suprarrenais/complicações , Carcinoma de Células Renais/complicações , Neoplasias Renais/complicações , Ligases , Feocromocitoma/complicações , Proteínas Supressoras de Tumor , Ubiquitina-Proteína Ligases , Doença de von Hippel-Lindau/complicações , Neoplasias das Glândulas Suprarrenais/cirurgia , Adulto , Catecolaminas/urina , Criança , Feminino , Humanos , Hipertensão/etiologia , Masculino , Mutação , Feocromocitoma/cirurgia , Proteínas/genética , Proteína Supressora de Tumor Von Hippel-Lindau , Doença de von Hippel-Lindau/diagnóstico , Doença de von Hippel-Lindau/genéticaRESUMO
We submit the case of a child afflicted with a mucoepidermoid bronchial tumor. The patient is a boy, aged seven, who after undergoing antibiotic treatment for six weeks because of a fever and atelectasia-condensation in the right lower lobe showed no signs of clinical improvement and was sent to our department to undergo further study and treatment. A bronchoscopy performed shows a polypoid mass that partially blocks the main bronchial tube a few milimiters under the access to the right upper lobe. A biopsy is carried out and the anatomopathological test shows there is a low degree epidermoid carcinoma. We decide to perform a lobectomy which for the tumor location and the lung condition has to be medium and lower right. We proceed to remove the adenopaty of hilium not affected by the tumor. The postoperative period develops without incidents. A check-up bronchoscopy performed three months later shows two polypoid masses in the right bronchial tube which, once a biopsy is performed, proved to be granulation tissue. Twelve months after undergoing surgery, the patient's condition is good, there is no evidence of tumor relapse and the breathing capacity is adequate, though there is an obstructive restrictive pattern in the espirometry. Even taking into consideration that lung tumors are extremely unusual, the epidermoid carcinoma is the one which most frequently occurs. The tumor's low malignancy is a sign that points to a good prognosis. Performing conservative surgery by means of bronchoplasty should be taken into account so as to keep the sequelae on the lung condition to a minimum, even though in this case the tumor location made it impossible.
