Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) following dengue fever

This paper reports a case of dengue in a six-year-old female child who suddenly developed excruciating headaches, fever, myalgia and paresis. Laboratory examinations included blood count, platelet count, biochemical tests (BUN, creatinine, aminotransferases, and total bilirubin and bilirubin fractions) and specific IgM titers (enzyme-immunoassay with recombinant tetravalent dengue). After ten days of hospitalization and having already been in a home environment, a new clinical image emerged, characterized by dysphagia, dysphonia, weakness, peripheral facial palsy and paresthesia. The diagnosis of Guillain-Barré Syndrome was based on clinical findings, cerebrospinal fluid examination, electrophysiological findings and the exclusion of other pathologies. Our case, as some shown in previous reports, calls attention to the possibility that Guillain-Barré Syndrome may occur in association with dengue.

TINU syndrome – Two Clinical Cases of Tubulo-Interstitial Nephritis and Uveitis

TINU (Tubulo-Interstitial Nephritis and Uveitis)syndrome is a rare disease of unknown aetiology characterised by the association between interstitial nephritis and uveitis. The authors present the cases of two young children whose symptoms began with anorexia and weight loss, associated with renal failure and proteinuria of tubular origin. One child also presented anaemia, glycosuria without hyperglycaemia and microhaematuria. A few months later both developed uveitis. In both cases the renal biopsy showed changes compatible with interstitial nephritis. As interstitial nephritis and uveitis aetiologies were not identified, TINU syndrome was suggested as a possible diagnosis. In both children there was a complete resolution, with one needing systemic steroids and immunosuppressive treatment. TINU syndrome should always be considered in the differential diagnosis of patients with renal and ophthalmologic changes.

Nephrotic syndrome associated with toxoplasmosis: report of seven cases

The concomitance of nephrotic syndrome and acute infection by Toxoplasma gondii is a rare occurrence in humans. In this paper seven cases of children, ranging from 11 months to 7 year-old, with concomitant nephrotic syndrome and asymptomatic acute T. gondii infection are reported. In one of those patients only the administration of anti-Toxoplasma therapy was enough to control the clinical and laboratory manifestations of the disease. In the other patients it was necessary to introduce corticosteroids or other immunosuppressant drugs. Three patients had complete clinical and laboratory improvement and the remaining showed only a partial response.

Gastric Outlet Obstruction in a Patient with Bouveret's Syndrome: a Case Report

BACKGROUND: Gallstone ileus accounts for 1% to 4% of cases of mechanical bowel obstruction, but may be responsible for up to 25% of cases in older age groups. In non-iatrogenic cases, gallstone migration occurs after formation of a biliary-enteric fistula. In fewer than 10% of patients with gallstone ileus, the impacted gallstones are located in the pylorus or duodenum, resulting in gastric outlet obstruction, known as Bouveret's syndrome. CASE PRESENTATION: We report an 86-year-old female who was admitted to hospital with a 10-day history of persistent vomiting and prostration. She was in hypovolemic shock at the time of arrival in the emergency department. Investigations revealed a gallstone in the duodenal bulb and a cholecystoduodenal fistula. She underwent surgical gastrolithotomy. Unfortunately, she died of aspiration pneumonia on the fourth postoperative day. CONCLUSION: This case shows the importance of considering Bouveret's syndrome in the differential diagnosis of gastric outlet obstruction, especially in the elderly, even in patients with no previous history of gallbladder disease.

Acute gouty arthritis as a manifestation of immune reconstitution inflammatory syndrome after initiation of antiretroviral therapy

Immune reconstitution inflammatory syndrome (IRIS) in HIV-infected subjects initiating antiretroviral therapy most commonly involves new or worsening manifestations of previously subclinical or overt infectious diseases. Reports of non-infectious IRIS are much less common but represent important diagnostic and treatment challenges. We report on a 34-year-old HIV-infected male patient with no history of gout who developed acute gouty arthritis in a single joint one month after initiating highly active antiretroviral therapy.

Neurogenic Thoracic Outlet Syndrome Associated with Cervical Rib

A true neurogenic thoracic outlet syndrome (TOS) associated with a cervical rib is considered extremely rare. The authors present their experience with 5 cases of true neurogenic TOS associated with a cervical rib. All patients were female and had a cervical rib confirmed radiographically pre-operatively. Average age was 34,8 years. Although all patients had been treated with several combinations of diverse drugs and a rehabilitation program before referral to surgery, all described their pain as intense and debilitating before surgical treatment. All patients had pre-operative electromyographic abnormalities. Patients were operated on via a supraclavicular approach and the cervical rib was resected. No intra-operative or postoperative complications were noted. Two years postoperatively, all patients mentioned improvement. However, only 2 were symptomless, and on no medication. In one patient there was significant improvement, and in the remaining 2 patients some residual pain persisted that had to be dealt with pharmacologically. All patients were able to resume their daily life activities. Recovery was poorer in the 2 patients that had been referred to surgery after a longer period of time since the beginning of symptoms.

RRH: envenoming syndrome due to 200 stings from Africanized honeybees

Envenoming syndrome from Africanized bee stings is a toxic syndrome caused by the inoculation of large amounts of venom from multiple bee stings, generally more than five hundred. The incidence of severe toxicity from Africanized bee stings is rare but deadly. This report reveals that because of the small volume of distribution, having fewer stings does not exempt a patient from experiencing an unfavorable outcome, particularly in children, elderly people or underweight people.

Trousseau's Syndrome Due to Asymptomatic Pancreatic Adenocarcinoma

Os autores relatam um caso de Síndrome de Trousseau, manifestado por trombose venosa migratória e embolia pulmonar, num doente de 58 anos assintomático até à data de internamento. O estudo desencadeado revela adenocarcinoma do pâncreas com metástases hepáticas, e a situação torna-se ainda mais grave após a ocorrência de um acidente vascular cerebral isquémico, aparentemente em relação com a paragem por 24 horas da terapêutica anti-coagulante com heparina de baixo peso molecular para realização de biópsia hepática e pancreática guiadas por exame de imagem. A síndrome de Trousseau define-se por tromboses venosas recorrentes ou migratórias, embolias arteriais causadas por endocardite trombótica não-bacteriana, ou ambas, em doentes com neoplasia maligna subjacente. O tratamento implica a administração permanente de heparina, e qualquer interrupção −ainda que breve− pode proporcionar novo episódio de trombose.

One Anastomosis Gastric Bypass versus Roux en Y Gastric Bypass as Salvage Technique after Failed Gastric Band: a Retrospective Analysis of 80 Cases

The classical “Roux en Y Gastric Bypass” (RYGBP) is still the standard technique between all the ones being used nowadays. The “One anastomosis gastric bypass” (OAGBP), is an evolution of the “Minigastic bypass” described by Robert Rutledge in 2001, is a well known and progressively frequent but still controversial technique. In our group, after an experience of 10 years using the RYGBP as a salvage surgery after failed gastric banding, in 132 cases, we decided to adopt the OAGBP as our preferential bariatric technique also in this situation. The theoretical main reasons for that shift are related to the increased safety, maximized weight loss, long term weight loss maintenance and reversibility of the operation. Method: Retrospectively we evaluated data of the surgical management of revisional cases for conversion, after failed or complicated gastric bands to gastric bypass. We selected the last 40 cases of each technique since May 2010. Results: All cases were performed by laparoscopy without any conversion. In both groups the conversion has been performed in one single step (17 cases, 42,5%). Data showed lower morbidity with OAGBP (2,5% against 7,5%) and better weight loss in theOAGBP cohort after a median follow up of 16months (67%against 55%) in patients revised after gastric band failure or complications. None had statistic significance (p>0,1) by the chi-square contingency table analysis.Conclusion: It seems to there is a difference in favour of OAGBP for conversion of complicated gastric bands. In this study we didn’t found statistic significance probably because of the short numbers. Prospective and more powerful studies are necessary to evaluate the benefit of the studied procedure.

SEROLOGICAL MARKERS OF VIRAL, SYPHILITIC AND TOXOPLASMIC INFECTION IN CHILDREN AND TEENAGERS WITH NEPHROTIC SYNDROME: CASE SERIES FROM MATO GROSSO STATE, BRAZIL

Some infections can be the cause of secondary nephrotic syndrome. The aim of this study was to describe the experience of a Renal Disease Reference Clinic from Central Brazil, in which serological markers of some infectious agents are systematically screened in children with nephrotic syndrome. Data were obtained from the assessment of medical files of all children under fifteen years of age, who matched nephrotic syndrome criteria. Subjects were tested for IgG and IgM antibodies against T. gondii and cytomegalovirus; antibodies against Herpes simplex, hepatitis C virus and HIV; and surface antigen (HBsAg) of hepatitis B virus. The VDRL test was also performed. 169 cases were studied. The median age on the first visit was 44 months and 103 (60.9%) patients were male. Anti-CMV IgG and IgM were found in 70.4% and 4.1%, respectively. IgG and IgM against Toxoplasma gondii were present in 32.5% and 5.3%, respectively. Two patients were positive for HBsAg, but none showed markers for HIV, hepatitis C, or Treponema pallidum. IgG and IgM against herpes simplex virus were performed on 54 patients, of which 48.1% and 22.2% were positive. IgM antibodies in some children with clinical signs of recent infection suggest that these diseases may play a role in the genesis of nephrotic syndrome.

Birt-Hogg-Dubé Syndrome

A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling.

Deletions within COL11A1 in Type 2 Stickler Syndrome Detected by Multiplex Ligation - Syndrome Detected by Multiplex Ligation Dependent Probe Amplification (MLPA)

Background: COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutations resulting in either Stickler or Marshall syndrome alter splice sites and result in exon skipping, which because of the exon structure of collagen genes usually leaves the message in-frame. The mutant protein then exerts a dominant negative effect as it co-assembles with other collagen gene products. To date only one large deletion of 40 kb in the COL11A1, which was detected by RT-PCR, has been characterized. However, commonly used screening protocols, utilizing genomic amplification and exon sequencing, are unlikely to detect such large deletions. Consequently the frequency of this type of mutation is unknown. Case presentations: We have used Multiplex Ligation-Dependent Probe Amplification (MLPA) in conjunction with exon amplification and sequencing, to analyze patients with clinical features of Stickler syndrome, and have detected six novel deletions that were not found by exon sequencing alone. Conclusion: Exon deletions appear to represent a significant proportion of type 2 Stickler syndrome. This observation was previously unknown and so diagnostic screening of COL11A1 should include assays capable of detecting both large and small deletions, in addition to exon sequencing.

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.