RESUMO
BACKGROUND: Pulmonary hamartomas are rare benign tumors of the lung with an incidence of 0.025%-0.32%. Endobronchial benign lesions can cause bronchial obstruction and recurrent respiratory infections or obstructive pneumonia and recurrent hemopthysis. CASE REPORT: A 66-year-old male with recurrent hemoptysis and pneumonias for a year, was referred to our department for an endoscopic resection of an endobronchial hamartoma. Initially he refused any intervention but, as he suffered additional episodes of hemoptysis and chest infections during a year on follow up, he finally underwent interventional bronchoscopy and the lesion was cauterized using snare electrocautery probe and removed with cryoextraction. The patient has been followed for two years in our outpatient clinic, with no further problems. CONCLUSION: Endoscopic treatment with flexible bronchoscope, electrocautery and cryotherapy provides an excellent outcome. Surgical therapy, should be reserved for the hamartomas that cannot be approached through endoscopy. Hippokratia 2014; 18 (4): 355-356.
RESUMO
Feingold syndrome (FS) is a dominantly inherited combination of microcephaly with or without learning disabilities, hand and foot abnormalities, short palpebral fissures and esophageal/duodenal atresia. The syndrome has autosomal dominant inheritance with full penetrance, and variable expressivity. Digital anomalies are almost always present. The gene for FS is localized to a 2.2 cM region in 2p23-p24. We report on the first Turkish family with Feingold syndrome. The propositus is a male infant with microcephaly, frontal balding, brachymesophalangy of the second and fifth fingers, bilateral syndactyly of toes 2-3, facial anomalies, choanal atresia and focal epilepsy. His father has microcephaly, and more severe hands and feet abnormalities. One of his brothers died because of eosofageal atresia. Clinical presentation of the family was suggestive of Feingold syndrome, and genetic testing of the MYCN gene confirmed the diagnosis. The missense mutation we report here has not been described previously. FS is an autosomal dominant condition, and therefore, the diagnosis has important implications for genetic counseling.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Duodeno/anormalidades , Atresia Esofágica/genética , Dedos/anormalidades , Genes Dominantes/genética , Atresia Intestinal/genética , Microcefalia/genética , Mutação de Sentido Incorreto/genética , Proteínas Nucleares/genética , Proteínas Oncogênicas/genética , Fenótipo , Anormalidades Múltiplas/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Atresia Esofágica/diagnóstico , Humanos , Lactente , Atresia Intestinal/diagnóstico , Masculino , Microcefalia/diagnóstico , Proteína Proto-Oncogênica N-Myc , Espasmos Infantis/diagnóstico , Espasmos Infantis/genética , Síndrome , TurquiaRESUMO
Mucoceles are common cystic lesions in the oral cavity. However, mucoceles located on the ventral surface of the tongue originating from anterior lingual salivary glands are rare. Only 24 cases were reported in the medical literature, of which most were relatively small lesions measuring less than 20 mm in diameter. This report describes a large-sized mucocele of the anterior lingual salivary glands in an 8-year-old boy who was treated by surgical excision of the lesion. The authors emphasize the importance of preoperative awareness and en bloc excision of the lesion even in asymptomatic patients to avoid further enlargement and complications.
Assuntos
Mucocele/diagnóstico , Mucocele/cirurgia , Doenças da Língua/diagnóstico , Doenças da Língua/cirurgia , Biópsia por Agulha , Criança , Seguimentos , Humanos , Masculino , Mucocele/patologia , Medição de Risco , Glândulas Salivares/patologia , Índice de Gravidade de Doença , Doenças da Língua/patologia , Resultado do TratamentoRESUMO
Recurrent meningitis is a rare but important event that needs to be searched for a predisposing factor. Congenital dermal sinuses occurring in the midline are among the etiological factors. Here, an 18-month-old boy with three attacks of recurrent meningitis due to a paramedian dermal sinus tract is presented. Klebsiella was the cultured causative agent. The lesion was suspected on physical examination and demonstrated by lumbosacral magnetic resonance imaging. To the best of our knowledge, this is the first case in English-language literature of the paravertebrally located dermal sinus tract resulting in recurrent meningitis. Therefore, a careful physical examination, especially including the paravertebral region beside the midline, is essential. Magnetic resonance imaging is a non-invasive descriptive method in the evaluation of congenital dermal sinus tracts.
