Dangerous thrombophilic states and internal pathologies: 3 cases of thrombosis of the abdominal veins.

Thrombosis of the abdominal veins is a rare clinical condition which can be assimilated with the more frequent localization of deep venous thrombosis of the lower limbs. In the last few years great attention has been paid to possible risk factors for thrombosis of the abdominal veins. Two risk factors that have been identified are the presence of internal diseases and congenital and/or acquired abnormalities of haemostasis. The authors describe 3 clinical cases (splenic and portal thrombosis due to congenital thrombophilia, Budd-Chiari syndrome, portal cavernoma consequent to ovarian neoplasia) with different etiopathogenesis to show how this apparently rare condition is today more frequently encountered and easier to recognize. In the presence of thrombosis of major venous structures the search and the identification of intrinsic internal risk factors and of congenital and acquired thrombophilic disorders remains of great importance. Screening for thrombophilia includes blood C and S proteins, AT III, homocysteine, Leiden mutation of the factor V gene, G20210A mutation of the prothrombin gene, antiphospholipid antibodies. The presence of one or more of these risk factors allows the identification of the cases of portal thrombosis (EHPVO) responsible for about 10% of all the cases of portal hypertension, without cirrhosis or other hepatic lesions. The primary diagnostic procedure however remains color-Doppler ultrasonography which represents the most simple and the cheapest diagnostic investigation for the study of the portal and suprahepatic vein system, but it's strictly operator dependent.

[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus]. / Un caso di sindrome di Bardet-Biedl familiare (obesità, lieve ritardo mentale, polidattilia, retinite pigmentosa ed insufficienza renale) con diabete mellito insulino-resistente.

A case of familial Bardet-Biedl syndrome (BBS) in a 64-year-old woman is presented; it is characterized by abdominal obesity (BMI: 38.28; WHR: 0.98), slight mental retardation, polydactyly, pigmentary retinopathy and moderate renal failure, with insulin-resistant diabetes mellitus and severe inflammation of the left limb with necrosis of the last toe (the sixth) of the left foot. Four brothers and sisters of the patient presented the same syndrome. The patient had had healthy offsprings. The review of current literature indicates that BBS is a genetic autosomal recessive disease, formerly grouped with Laurence-Moon-Biedl syndrome but today considered as a separate entity. It is characterized by obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism in males, and renal structural abnormalities or functional impairment. Extra- and intrafamilial variability of expressivity and severity of the various clinical manifestations was reported, among affected families and also in the same family. BBS is a rare but important syndrome, that should be known by the endocrinologist and the specialist in internal medicine, because it has an adverse prognosis, with early onset of blindness, insulin-resistant diabetes mellitus and severe renal impairment. Renal failure is a frequent cause of death early in life, even in the infant-juvenile years.

[Solitary primary cerebral echinococcosis. Report of a case]. / Echinococcosi cerebrale primaria solitaria. Descrizione di un caso.

INTRODUCTION AND AIMS: Echinococcosis is a widespread parasitic disease caused by Echinococcus granulosus. Hydatid cysts are mainly diagnosed in adults except for primary cerebral localisation which is electively observed in childhood owing to the early manifestation of signs and/or symptoms of the space-occupying mass. In July 1995 P.N., a 55-year-old woman, was referred to our attention. She complained of intense asthenia, cephalea not responding to NSAIDs and paroxysms of tremor. RESULTS: The anamnesis revealed close relationships with dogs since infancy and an attack of pleurisy of unknown etiology. The objective examination was negative except for an increased volume of the right-hand thyroid lobe. Hematochemical tests showed relative eosinophilia, a significant positivity of anti-thyroglobulin antibodies and antiperoxidase with normal thyroid function indices. Thyroid scan showed a multinodular goitre. Confirmation of eosinophilia suggested the performance of a parasitological examination of feces with negative results. ECG and EEG were normal. Persistent cephalea led to the performance of an encephalic CAT which revealed a cystic formation in the rolandic region, subsequently confirmed by encephalic MNR. The positivity of the Ghedini-Weinberg test led to the diagnosis of cerebral echinococcosis. Chest X-ray and hepatic scan excluded hydatid localisation in these organs. CONCLUSIONS: The case was diagnosed as solitary primary cerebral echinococcosis. Medical follow-up was commenced with albendazole for six months, after which a control encephalic CAT showed the unchanged size of the cysts. The patient consequently underwent surgical exeresis.

[Angiodysplasia of the right colon and aortic stenosis. A case report]. / Angiodisplasia del colon destro e stenosi aortica. Descrizione di un caso.

We report the case of a female patient who came to our observation for a severe enterorrhage. Following colonoscopic examination and color-Doppler M-B Mode echocardiography we made the following diagnosis: "angiodysplasia of the right colon in females with aortic stenosis". It was possible to ascertain whether there were similar lesions in other parts of the gastro-intestinal tract because the patient opposed firmly. In agreement with other authors, we believe that colonoscopic examination is the appropriate method to diagnose gastro-intestinal angiodysplasia. The advanced age and the clinical conditions of the patient did not allow surgical treatment, so we treated her with antihaemorrhagic drugs and elevated doses of ascorbic acid (4 g/die). The disappearance of enterorrhagies, the rapid clinical recovery and the normalization of red blood cell (RBC) count allowed us to discontinue antihaemorrhagic treatment and to continue the administration of elevated doses of ascorbic acid. Eight days later, the patient was discharged in good clinical condition and ascorbic acid was prescribed to be continued at home. A good clinical and haemodynamic balance was observed at the six-month follow-up. In conclusion we think that the clinical case we observed, characterized by the association angiodysplasia of the right colon-aortic stenosis, may be included in the diction Heyde's syndrome. In aging patients with severe concomitant diseases, ineligible for surgical interventions, the enterorrhage caused by a non complicated angiodysplastic lesion of the gastro-intestinal tract may benefit from the acute administration of ascorbic acid as the therapeutic agent of first choice capable to loose and/or stop the haemorragic complication and, in chronic administration, to reduce the number of relapses.