Colonic tuberculosis presenting as intestinal subocclusion in a patient with neuroendocrine tumor: a case report.

Extra-pulmonary tuberculosis (EPT) is responsible for approximately 14% of all tuberculosis cases in Brazil. The incidence of EPT is increasing slightly and is often associated with human immunodeficiency virus infection and other causes of immunosuppression. The association of EPT and cancer is poorly documented. Here we present a rare case of intestinal subocclusion that was supposed to be caused by cancer and was caused by colonic tuberculosis (CT) in a patient with metastatic neuroendocrine tumor (NET). A 61-year-old woman presented with one-year history of abdominal pain, diarrhea and weight loss. An abdominal CT scan (ACTS) showed liver, peritoneal and lymph nodes metastasis. Colonoscopy revealed a subocclusive lesion in the descendent colon. She underwent an urgent laparoscopy and transverse colostomy. The liver biopsy revealed a well differentiated grade 2 NET and the mycobacterial culture confirmed tuberculosis in the colonic lesion. Anti-tuberculosis was prescribed, and somatostatin analogue therapy was introduced one month later. The tuberculosis treatment was finished, and the patient remained on somatostatin analogue for 21 months. During this time the symptoms of abdominal pain and diarrhea disappeared and her body weight increased 35% over her baseline weight. Then, diarrhea, flushing and abdominal pain returned, and a new ACTS confirmed progressive disease. Interferon was added to her treatment with satisfactory control of symptoms. She was forwarded to another hospital to be treated with 177Lu-DOTATOC. The symptoms improved and the patient remained symptom free for more than a year, and now she has a new disease progression. The patient will be evaluated for retreatment with 177Lu-DOTATOC. Advanced NET may be a devastating disease enough to predispose the patient to EPT. We must keep this hypothesis in the differential diagnosis of our patients since symptoms of CT are usually nonspecific. At colonoscopy, radiological features are strictures, colitis and polypoidal lesions and complications such as bowel perforation or fistula must be in mind. It is particularly important those with advanced disease in endemic areas of tuberculosis.

Telangiectatic adenoma - computed tomography and magnetic resonance findings: a case report and review of the literature.

Telangiectatic adenoma is a new classification of a hepatic lesion. It was previously named telangiectatic focal nodular hyperplasia but it is in fact true adenoma with telangiectatic features. We report here a case of telangiectatic adenoma in a 72-year-old woman. The image features are lack of a central scar, a heterogeneous lesion, hyperintensity in T1-weighted MR images, strong hyperintensity in T2-weighted MR images, and persistent contrast enhancement in delayed-phase contrast-enhanced CT or T1-weighted MR images. It is a monoclonal lesion with potential of malignancy. The treatment of telangiectatic adenoma is surgery, the same way as hepatic adenoma. Focal nodular hyperplasia may be managed by clinical follow-up alone.

Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management.

OBJECTIVE: Multiple cerebral cavernous malformation (CCM) is the hallmark of familial presentation of cavernous malformation in the brain. We describe an ongoing Familial Cerebral Cavernous Malformation Project in the Rio de Janeiro state showing genetic profile and the pattern of emergent neuroimaging findings of this particular population besides a review of the updated recommendations for management of familial CCM versus patients harboring sporadic lesions. METHOD: Four families of our cohort of 9 families were genetically mapped showing mutational profile linked to CCM1. The neuroimaging paradigm was shifted from T2*gradient-echo (GRE) sequence to susceptibility weighting MR phase imaging (SWI). RESULTS: Only two index cases were subjected to surgery. There was no surgical intervention in any of the kindreds of our entire cohort of 9 families of our Neurovascular Program within seven years of follow-up. The genetic sequencing for mutational profile in four of these families has demonstrated only CCM1 gene affected. Our management of the familial CCM is according to the review of the literature recommendations. CONCLUSIONS: The Project of Familial Cerebral Cavernous Malformations of Rio de Janeiro detected mutations of the gene CCM1 in the first four families studied. Familial cavernous malformation are to be settled apart from the more common sporadic lesion. A set of recommendations was searched for in the literature in order to deal with these specific patients and kindreds.

Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management / Malformação cavernosa cerebral familiar: um estudo no Rio de Janeiro e revisão das recomendações para tratamento

OBJECTIVE: Multiple cerebral cavernous malformation (CCM) is the hallmark of familial presentation of cavernous malformation in the brain. We describe an ongoing Familial Cerebral Cavernous Malformation Project in the Rio de Janeiro state showing genetic profile and the pattern of emergent neuroimaging findings of this particular population besides a review of the updated recommendations for management of familial CCM versus patients harboring sporadic lesions. METHOD: Four families of our cohort of 9 families were genetically mapped showing mutational profile linked to CCM1. The neuroimaging paradigm was shifted from T2*gradient-echo (GRE) sequence to susceptibility weighting MR phase imaging (SWI). RESULTS: Only two index cases were subjected to surgery. There was no surgical intervention in any of the kindreds of our entire cohort of 9 families of our Neurovascular Program within seven years of follow-up. The genetic sequencing for mutacional profile in four of these families has demonstrated only CCM1 gene affected. Our management of the familial CCM is according to the review of the literature recommendations. CONCLUSIONS: The Project of Familial Cerebral Cavernous Malformations of Rio de Janeiro detected mutations of the gene CCM1 in the first four families studied. Familial cavernous malformation are to be settled apart from the more common sporadic lesion. A set of recommendations was searched for in the literature in order to deal with these specific patients and kindreds.

OBJETIVOS: A apresentação de malformação cavernosa cerebral (CCM) através de múltiplas lesões cerebrais é a marca da forma familiar da doença. Os autores descrevem o Projeto Malformação Cavernosa Cerebral Familiar, em andamento no Rio de Janeiro, demonstrando o perfil genético e o padrão atual de achados neurorradiológicos dessa população específica e uma revisão das recomendações atuais para o manuseio e tratamento dos portadores dessa forma da doença versus os pacientes com malformação cavernosa cerebral esporádica. MÉTODO: Quatro familias de nossa coorte de 9 familias foram completamente mapeadas geneticamente e demonstraram padrão mutacional sempre ligado ao gene CCM1. O paradigma de neurimagens dessa população foi mudado para a seqüência de susceptibility weighting MR phase imaging (SWI) em substituição à seqüência T2*gradient-echo (GRE). RESULTADOS: Apenas 2 casos indices foram submetidos à ressecção cirúrgica. Não houve intervenção cirúrgica em nenhum outro parente de toda a coorte de 9 familias no período de sete anos de acompanhamento. O sequenciamento genético em busca do perfil mutacional foi completado em 4 familias demonstrando o acometimento do gene CCM1 em todas. O manuseio e tratamento de nossa população de malformação cavernosa cerebral familiar está de acordo com a revisão feita sobre recomendações da literatura. CONCLUSÃO: O Projeto Malformação Cavernosa Cerebral Familiar detectou mutações do gene CCM1 nas primeiras quatro famílias estudadas. Os portadores dessa forma de malformação cavernosa cerebral da doença devem ser considerados à parte na rotina de avaliação e tratamento em relação à forma esporádica da doença. As recomendações foram buscadas na literature para nortear o manuseio dessa população específica.