A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report / Doença renal policística autossômica recessiva, shunt esplenorrenal e fibrose hepática congênita em adolescente: relato de caso

ABSTRACT A 16-year-old female patient previously diagnosed with autosomal recessive polycystic kidney disease (ARPKD) presented with acute bilateral pneumonia, upper gastrointestinal bleeding caused by ruptured esophageal varices, ascites, and lower limb edema. She required intensive care and an endoscopic procedure to treat the gastrointestinal bleeding. The analysis of the differential diagnosis for chronic liver disease indicated she had a spontaneous splenorenal shunt. Ultrasound-guided biopsy revealed the patient had cirrhosis, as characteristically seen in individuals with ARPKD. She had no symptoms at discharge and was referred for review for a combined transplant.

RESUMO Relato de caso de uma paciente adolescente de 16 anos de idade com diagnóstico prévio de doença renal policística autossômica recessiva (DRPAR), que apresentou quadro agudo de pneumonia bilateral e hemorragia digestiva alta por ruptura de varizes esofágicas, bem como ascite e edema de membros inferiores. Necessitou de estabilização clínica intensiva e tratamento endoscópico do sangramento digestivo. Após investigação dos diagnósticos diferenciais da hepatopatia crônica, diagnosticou-se shunt esplenorrenal espontâneo, e realizou-se biópsia hepática guiada por ecografia com diagnóstico de cirrose, espectro típico da DRPAR. Recebeu alta hospitalar assintomática e foi encaminhada para avaliação de transplante duplo.

Addition of n-butyl cyanoacrylate to classic transarterial chemoembolization may improve the radiological response in patients with hepatocellular carcinoma

OBJECTIVE: Transarterial chemoembolization is the treatment of choice for intermediate-stage hepatocellular carcinoma. However, there are no clear data supporting transarterial chemoembolization vs . transarterial embolization or regarding the best chemotherapeutic agent, which may suggest a preponderant role of ischemia over chemotherapeutic action. This study sought to evaluate the radiological response and outcome of transarterial chemoembolization modified by n-butyl cyanoacrylate addition compared to conventional transarterial chemoembolization in hepatocellular carcinoma patients. MATERIALS AND METHODS: A retrospective review identified forty-seven patients who underwent modified chemoembolization and thirty-three who underwent conventional chemoembolization between June 2006 and December 2011. The radiological response was reassessed using the modified Response Evaluation Criteria in Solid Tumors. The sustained complete response, time to progression and overall survival rates were also analyzed. RESULTS: Complete response rates were significantly higher in patients who had undergone modified chemoembolization compared to those who had undergone conventional treatment (61.7% and 24.3%, respectively; p <0.001). The rate of sustained complete response was significantly higher in the modified chemoembolization group compared to the conventional chemoembolization group (median of 236 and 37 days, respectively; p <0.001). Time to progression was significantly higher in the modified chemoembolization group compared to the conventional chemoembolization group (median of 424 and 201 days, respectively; p =0.042). Overall survival rates revealed no difference between patients who received modified chemoembolization and conventional chemoembolization (median of 483 and 399 days, respectively; p =0.316). CONCLUSION: Transarterial chemoembolization modified by n-butyl cyanoacrylate addition was superior to conventional transarterial chemoembolization in terms of the radiological response in the first imaging control. Although the sustained complete response and time to progression rates were higher for the modified chemoembolization group, no differences in overall survival rates were observed.

The 'silence' of silent brain infarctions may be related to chronic ischemic preconditioning and nonstrategic locations rather than to a small infarction size

OBJECTIVE: Silent brain infarctions are the silent cerebrovascular events that are distinguished from symptomatic lacunar infarctions by their 'silence'; the origin of these infarctions is still unclear. This study analyzed the characteristics of silent and symptomatic lacunar infarctions and sought to explore the mechanism of this 'silence'. METHODS: In total, 156 patients with only silent brain infarctions, 90 with only symptomatic lacunar infarctions, 160 with both silent and symptomatic lacunar infarctions, and 115 without any infarctions were recruited. Vascular risk factors, leukoaraiosis, and vascular assessment results were compared. The National Institutes of Health Stroke Scale scores were compared between patients with only symptomatic lacunar infarctions and patients with two types of infarctions. The locations of all of the infarctions were evaluated. The evolution of the two types of infarctions was retrospectively studied by comparing the infarcts on the magnetic resonance images of 63 patients obtained at different times. RESULTS: The main risk factors for silent brain infarctions were hypertension, age, and advanced leukoaraiosis; the main factors for symptomatic lacunar infarctions were hypertension, atrial fibrillation, and atherosclerosis of relevant arteries. The neurological deficits of patients with only symptomatic lacunar infarctions were more severe than those of patients with both types of infarctions. More silent brain infarctions were located in the corona radiata and basal ganglia; these locations were different from those of the symptomatic lacunar infarctions. The initial sizes of the symptomatic lacunar infarctions were larger than the silent brain infarctions, whereas the final sizes were almost equal between the two groups. CONCLUSIONS: Chronic ischemic preconditioning and nonstrategic locations may be the main reasons for the 'silence' of silent brain infarctions.

Tumor del cuerpo carotídeo: A propósito de 10 casos tratados / Carotid body tumors: Report of ten cases

Background: Carotid body tumors arise from a cellular conglomerate located at the carotid bifurcation. Progressive enlargement can involve the arterial wall and neighbor cranial nerves. Aim: To report a series of 10 patients treated of carotid body tumors and review national experience. Patients and methods: Between 1984 and 2006, we operated 8 women and 2 men, aged 19 to 75 years, with this type of tumor. Results: The most common cause for consultation was a cervical mass in 90 percent, with a mean evolution lapse of 13.2 months (range 3 to 126). In all cases, diagnosis was confirmed with angiographic imaging and histopathology. Ten tumors were surgically removed with no complications. Eighty percent of tumors were in stage II according to Shamblin classification. During long term follow up all patients have remained asymptomatic. Only 31 carotid body tumors have been reported in Chilean medical literature during a 43 year period. Conclusions: Paragangliomas of the carotid body can be diagnosed in clinical grounds, requiring vascular imaging. These infrequent lesions are generally benign, early surgical removal by surgeons with vascular expertise avoids neurological and or vascular complications.

Sudden sensorineural hearing loss and vertigo associated with arterial occlusive disease: three case reports and literature review

Sudden sensorineural hearing loss and vertigo (SSNHLV) has multifactorial causes, of which viral, autoimmune and vascular insufficiency are the most common. The therapeutic management for SSNHLV includes antiviral drugs, corticosteroids, vasodilators, normovolemic hemodilution therapy and hyperbaric oxygen therapy. Vertebrobasilar occlusive disease and carotid occlusive disease are seldom related to SSNHLV. Discussions concerning SSNHLV caused by occlusive vascular disease are important and necessary for both neurologists and otolaryngologists, since their therapeutic management and prognosis are very different from other causes of hearing loss and vertigo. Here, we present our experience with three cases managed with interventional treatment and conduct a review and discussion on the relevant literature. We conclude that investigation of vertebrobasilar and carotid occlusive diseases is necessary in patients over 50 years of age who present SSNHLV, mild neurological symptoms and a history of arteriosclerosis, high blood pressure or thrombosis.

Surdez sensorioneural súbita e vertigem súbita (SSNVS) podem ter múltiplas causas, e a infecção virótica, a doença autoimune e a insuficiência vascular são as mais comuns. O tratamento da SSNVS inclui drogas antiviróticas, corticosteróides, vasodilatores, terapia de hemodiluição normovolêmica e terapia hiperbárica. Raramente são relacionadas como causa a doença vertebrobasilar oclusiva e a doença carotídea oclusiva. Discutir SSNVS é importante e necessário para neurologistas e otolaringologistas, uma vez que a terapia e o prognóstico são muito diferentes conforme a etiologia. Apresentamos nossa experiência com três casos em que foi administrado tratamento intervencional para SSNVS de causa oclusiva em grandes vasos e apresentamos uma revisão e discussão da literatura pertinente. Concluímos que a investigação de doenças oclusivas vertebrobasilar e carotídea é necessária em pacientes acima dos 50 anos de idade com SSNVS, sintomas neurológicos moderados e uma história de arteriosclerose, pressão alta ou trombose.

Trombose do seio sigmóide associada à otite média crônica / Sigmoid Sinus thrombosis associated to chronic otitis media

A trombose séptica do seio sigmóide (TSSS) é uma doença rara de tratamento controverso. OBJETIVO: Relatarmos nossa experiência, ressaltando os aspectos clínicos e terapêuticos. MATERIAL E MÉTODO: Estudo retrospectivo de seis casos de TSSS tratados nos últimos 10 anos. O diagnóstico foi confirmado através de angiorressonância com acompanhamento de seis meses a seis anos. RESULTADOS: O diagnóstico da TSSS só foi suspeitado durante a análise de imagem solicitada para avaliação de outras complicações de otite média crônica. Febre, cefaléia e paralisia facial foram as principais manifestações clínicas relacionadas aos diagnósticos de mastoidite, meningite e abscesso cerebelar. Não foi possível identificar nenhum sintoma específico de trombose do seio sigmóide. Em todos os pacientes foi realizado mastoidectomia com antibioticoterapia de largo espectro sendo mantido por três meses. Em três casos foi realizada anticoagulação e nos outros três não foi indicado este tipo de terapia. Todos os pacientes evoluíram bem sem seqüelas. CONCLUSÃO: O diagnóstico de TSSS tem sido realizado inesperadamente em pacientes com otites médias crônica com outras complicações associadas. Acreditamos que esta doença esteja sendo subdiagnosticada. Apesar de grave, o prognóstico clínico tem sido bom, apenas com mastoidectomia e antibioticoterapia.

Otogenous lateral sinus thrombosis (OLST) is a rare disease and presents a controversial treatment. AIM: Clinical aspects and treatment were reported based on our experience. METHODS: Retrospective study. Six cases of OLST were treated in our institution in the last ten years. Clinical and imaging data were analyzed. RESULTS: All six patients had the lateral sinus thrombosis detected during image evaluation for other symptoms related to chronic otitis media (COM) complications. Fever, headache and facial paralysis were the main clinical manifestation related to mastoiditis, meningitis and cerebellar abscess. We could not identify, in any case, specific features of lateral sinus thrombosis. In all cases a mastoidectomy was associated with large spectrum antibiotics maintained for 3 months. In three cases anticoagulation therapy was introduced and in three cases anticoagulation was not indicated. All cases presented a good clinical evolution, without sequelae. CONCLUSIONS: OLST is almost always associated with other complications of COM. It is diagnosed almost by accident during the investigative image study. We believe such disease is underestimated. In our experience, OLST presents a benign course, and mastoidectomy with antibiotics is the treatment of choice.

Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease

The objective of the present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population. The medical records of 92 patients with autosomal dominant polycystic kidney disease attended during the period from 1985 to 2003 were reviewed. The following data were recorded: age at diagnosis, gender, associated clinical manifestations, occurrence of stroke, age at loss of renal function (beginning of dialysis), and presence of a family history. The involvement of abdominal viscera was investigated by ultrasonography. Intracranial alterations were prospectively investigated by magnetic resonance angiography in 42 asymptomatic patients, and complemented with digital subtraction arteriography when indicated. Mean age at diagnosis was 35.1 ± 14.9 years, and mean serum creatinine at referral was 2.4 ± 2.8 mg/dL. The most frequent clinical manifestations during the disease were arterial hypertension (63.3 percent), lumbar pain (55.4 percent), an abdominal mass (47.8 percent), and urinary infection (35.8 percent). Loss of renal function occurred in 27 patients (mean age: 45.4 ± 9.5 years). The liver was the second organ most frequently affected (39.1 percent). Stroke occurred in 7.6 percent of the patients. Asymptomatic intracranial aneurysm was detected in 3 patients and arachnoid cysts in 3 other patients. In conclusion, the most common clinical features were lumbar pain, arterial hypertension, abdominal mass, and urinary infection, and the most serious complications were chronic renal failure and stroke. Both intracranial aneurysms and arachnoid cysts occurred in asymptomatic patients at a frequency of 7.14 percent.

Natural history of stenosis in the iliac arteries in patients with intermittent claudication undergoing clinical treatment

OBJETIVO: Apesar da longa experiência com o tratamento da Claudicação Intermitente, pouco se sabe sobre a evolução natural das estenoses nas artérias ilíacas. Com o advento do tratamento endovascular, esse conhecimento tornou-se importante. MÉTODOS: Foram avaliadas cinqüenta e duas estenoses, diagnosticadas por arteriografia, em 38 pacientes com claudicação intermitente acompanhados clinicamente. Após um intervalo de tempo mínimo de 6 meses, os pacientes foram submetidos a uma angioressonância para determinar se houve oclusão arterial. Principais medidas de avaliação: Foram avaliados os principais fatores que poderiam influenciar a progressão da estenose, como os fatores de risco (tabagismo, hipertensão, diabete, sexo, idade), a aderência ao tratamento clínico,o grau de estenose inicial, sua localização e o tempo de observação. RESULTADOS: O período médio de observação foi de 39 meses. Das 52 lesões analisadas, 13 (25%) evoluíram para oclusão. Quando houve oclusão, ocorreu piora clínica na maioria dos casos (63,2%), sendo esta associação estatisticamente significante (p=0,002). O grau de estenose inicial, sua localização, a aderência ao tratamento e o tempo de observação não apresentaram relação com a progressão da lesão. Os pacientes que evoluíram para oclusão eram mais jovens (p=0,02). Pelo teste de regressão logística, os fatores determinantes da piora clínica foram a oclusão do vaso e a não aderência ao tratamento clínico. CONCLUSÕES: A progressão da estenose para oclusão, que ocorre em 25% dos casos, gera piora clínica. O tratamento clínico, apesar de importante, não preveniu a oclusão arterial, que poderá ser alcançada com o desenvolvimento de drogas que possam estabilizar a placa aterosclerótica ou com intervenções endovasculares precoces.