The dilution evaluation as a corrective measure for interference in the white blood cell scattergram in Beckman Coulter DxH 900.

BACKGROUND: The Beckman Coulter DxH 900 is a haematological analyser capable of counting and sizing blood cells, and obtaining a complete blood cell count (CBC). This analyses different parameters of red blood cells (RBC), platelets and white blood cells/leukocytes. Some automated CBC counters present limitations due to specimen characteristics, abnormal cells or both factors. In the presence of abnormalities, the DxH 900 has a flagging system, warning the laboratory technician that something needs to be verified. In the present work, we evaluated samples from oncologic patients, presenting a population erroneously perceived as being lymphocytes. The most common explanations for this situation are RBC resistant to lysis or serum hyperbilirubinaemia. METHODS: In an attempt to solve and understand what the cause of this problem might be, we diluted our samples (1:3) and analysed the serum total bilirubin. To identify cells' abnormalities, the samples were also analysed by manual DLC counts. During the study, we also checked the different flags presented by the equipment. RESULTS: The results evidenced that the major interference was due to RBC lysis resistance, corresponding to 94.7% of the cases, while hyperbilirubinaemia was only present in 73.4%. Besides, we determined that some samples with normal bilirubin levels also presented interference, suggesting that hyperbilirubinaemia was not the main cause of the error. The most recurrent flag observed was "High event rate". CONCLUSION: The dilution solved all of the observed interferences. The results between diluted and manual counts showed a strong correlation, leading us to introduce dilution in our laboratory routine.

A Rare Cause of Low Back Pain: A Challenging Diagnosis.

One of the rarest causes of low back pain is septic arthritis of a lumbar facet joint. We report the case of a 92-year-old diabetic woman with a history of four days of back pain, dysuria, and fever. Due to a sudden worsening of lumbar pain, she went to the emergency department. Physical exam revealed pain with pressure over the D12 vertebral apophyses and the lower-left paraspinal musculature. Laboratory data showed a normochromic normocytic anemia with a hemoglobin of 9.3 g/dL, white cell count of 14.61x10e3/µL (83.1% neutrophils), serum creatinine 1.46 mg/dL and C-reactive protein of 32.11 mg/dL. In urinalysis, nitrites and leukocyturia were identified. CT scan showed an acute D12 fracture and fat stranding at L5, with no irregularities in the discs or in other lumbar spaces. Escherichia coli was isolated in blood culture. Lumbar MRI confirmed the diagnosis of septic arthritis of an L5-S1 facet joint and L5 vertebrae osteomyelitis. The patient was successfully treated with intravenous ceftriaxone for eight weeks. As far as we know, this is the second report of septic arthritis of the facet joint caused by Escherichia coli.

Serratia marcescens Endocarditis: A Case Report and Literature Review.

Serratia marcescens is a rarely implicated agent in endocarditis. We describe a case of a patient that underwent aortic and mitral valve replacement for Streptococcus agalactiae endocarditis. Four months later, he was readmitted with an ischemic stroke and fever. Physical examination and repetitive transthoracic echocardiogram were unremarkable. The initial blood cultures were negative. Due to sustained fever, vancomycin, gentamicin and piperacillin-tazobactam were initiated. On subsequent blood cultures, Serratia marcescens was isolated and antibiotics switched to ertapenem and gentamicin. In addition to cerebral emboli, a splenic embolus was found. The PET/CT revealed an abnormal hypercaptation in the mitral bioprosthesis. The patient was treated for six weeks. There are no current specific recommendations regarding the treatment of Serratia marcescens endocarditis. It is widely accepted that treatment should be prolonged and include a combination of antimicrobial agents. Morbidity and mortality are high, particularly when there's the need for surgical replacement. In this case, however, the patient ended-up only requiring medical treatment due to the favourable response.

A Serratia marcescens é um agente raro de endocardite. Descrevemos o caso de um doente submetido a substituição das válvulas aórtica e mitral por endocardite causada por Streptococcus agalactiae. Quatro meses após, é readmitido por evento cerebral isquémico e febre. Ao exame objetivo não evidenciava alterações e os ecocardiogramas transtorácicos eram normais. As hemoculturas colhidas à admissão foram estéreis. O doente manteve-se febril, iniciando-se empiricamente vancomicina, gentamicina e piperacilina-tazobactam. Após isolamento de Serratia marcescens em hemoculturas subsequentes, a antibioterapia foi ajustada para ertapenem e gentamicina. Para além de um êmbolo cerebral, foi encontrada embolia esplénica e hipercaptação anormal na prótese mitral biológica em PET. Foi efetuado tratamento durante seis semanas. Não existem recomendações específicas sobre o tratamento de endocardite por Serratia marcescens, mas deve ser prolongado e com terapêutica combinada. A morbimortalidade é elevada, sobretudo quando há necessidade de cirurgia. Neste caso, a evolução clínica favorável do doente permitiu o tratamento médico exclusivo.

Portuguese validation of the Adult Separation Anxiety-Questionnaire (ASA-27).

Adult separation anxiety disorder (ASAD) is characterized by developmentally inappropriate and excessive fear or anxiety concerning separation from those to whom the individual is attached. Despite the high rates of this diagnosis among Portuguese adults, there is a lack of measures to assess it. In this study, we assessed the psychometric properties of a Portuguese adaptation of the Adult Separation Anxiety questionnaire (ASA-27) on a sample of 267 adults (72.7% women) aged 18-80 years (M = 40.5, SD = 13.1). Factor structure, internal consistency, and convergence validity were examined. This study confirmed the single-factor structure of the Portuguese version of ASA-27. Consistency was high for the total sample (ω = .92) and by gender (ω = .93 and 92, men and women groups, respectively). The scale was positively related to the Portuguese version of State-Trait Anxiety Inventory (STAI) (r = .57, p< .001, for both State and trait anxiety scales) and Composite Codependency Scale total score (r = .29, p< .001). In addition, the ASA-27 total score showed incremental validity in the explanation of anxiety measured by STAI. In conclusion, results show that the Portuguese version of the ASA-27 is a reliable and valid measure of ASAD.

A Rare Presentation of Breast Cancer.

Breast cancer is the most common tumour in women. Only 5-15% of breast cancer patients have distant metastases at diagnosis. Here we describe the case of a previously healthy 43-year-old woman with nausea, postprandial epigastric pain, and constipation as the first clinical presentation of breast cancer. Total colonoscopy revealed colon metastases and the immunohistochemical profile favoured primitive invasive lobular carcinoma of the breast. Gastrointestinal tract metastases are more frequent in lobular histology of breast cancer. Stomach and small intestine are the most common metastatic sites, while colon metastases are a rare occurrence.

Vitamin D Deficiency in a Portuguese Cohort of Patients with Inflammatory Bowel Disease: Prevalence and Relation to Disease Activity.

BACKGROUND AND AIMS: Vitamin D deficiency is more common in inflammatory bowel disease (IBD) patients than in the general population. However, there are conflicting data about predictive factors of vitamin D deficiency and its potential association with disease activity. The aims of this study were to determine the prevalence and predictive factors of vitamin D deficiency and to evaluate a possible association with disease activity. METHODS: A prospective observational study was conducted, including patients with IBD from January to July 2016. The Endocrine Society guidelines were considered for defining levels of serum 25-hydroxyvitamin D (25-OH-D) as follows: deficient (< 20 ng/mL, < 10 ng/mL being severe deficiency), insufficient (21-29 ng/mL), and adequate (> 30 ng/mL). RESULTS: A total of 152 patients (52% men; 47.2 ± 17.3 years) were included, of whom 70% had Crohn's disease (CD). Thirty-seven percent of patients were on immunosuppressors and 17% were on biologics. The majority were outpatients (88.2%). Mean 25-OH-D levels were 17.1 ± 8 ng/mL (CD: 16.7 ± 8 ng/mL vs. ulcerative colitis: 17.6 ± 7 ng/mL, p = 0.1). Inadequate levels were present in 90.8% of patients (deficiency: 68.4%; insufficiency: 22.4%). A significant negative correlation between 25-OH-D levels and age (r = -0.2, p = 0.04), C-reactive protein (CRP) levels (r = -0.22, p = 0.004), and Harvey-Bradshaw index (HBi) (r = -0.32, p = 0.001) was found. Patients with severe deficiency showed a higher CRP (0.6 vs. 1.4 mg/dL, p = 0.03), erythrocyte sedimentation rate (ESR) (22 vs. 31 mm/h, p = 0.03), and HBi (2 vs. 5, p < 0.001) and lower hemoglobin (13.6 vs. 12.7 g/dL, p = 0.02). There was no association between vitamin D deficiency and gender, type, extent, and duration of disease, surgery, and other measures of disease activity, such as ESR, hemoglobin (these 2 items except for severe deficiency), fecal calprotectin, or Truelove and Witts classification. CONCLUSIONS: There is a high prevalence of inadequate levels of vitamin D in IBD patients, particularly deficiency (68.4%). There seems to exist an association between lower levels of vitamin D and higher disease activity, especially in CD.

INTRODUÇÃO: A deficiáncia de vitamina D é mais comum na doença inflamatória intestinal (DII) que na população geral. Contudo, existem dados controversos sobre fatores preditivos da deficiáncia de vitamina D e a potencial associação com a atividade da doença. Os objetivos deste estudo foram determinar a prevaláncia e fatores preditivos da deficiáncia de vitamina D e aferir possível associação à atividade da doença. MÉTODOS: Desenhou-se um estudo observacional prospetivo incluindo doentes com DII entre janeiro e julho/2016. Foram consideradas as orientações da The Endocrine Society para definir níveis de 25-hidroxivitamina D (25-OH-D) sérica como: deficientes (< 20 ng/mL, sendo <10 ng/mL deficiáncia grave [DG]), insuficientes (21­29 ng/ mL) e adequados (> 30 ng/mL). RESULTADOS: Foram incluídos 152 doentes (52% homens; 47.2 ± 17.3 anos), dos quais 70% com Doença de Crohn (DC). Do total, 37% estavam medicados com immunossupressores e 17% com biológicos. A maioria (88.2%) estava em ambulatório. O nível sérico de 25-OH-D foi 17.1 ± 8 ng/mL (DC: 16.7 ± 8 ng/mL vs. Colite ulcerosa: 17.6 ± 7 ng/mL, p = 0.1). Verificaram-se níveis inadequados em 90.8% (deficiáncia: 68.4%; insuficiáncia: 22.4%). Registou-se correlação negativa significativa entre níveis de 25-OH-D e idade (r = −0.2, p = 0.04), proteína C-reativa (PCR) (r = −0.22, p = 0.004) e índice Harvey-Bradshaw (iHB) (r = −0.32, p = 0.001). Doentes com DG apresentaram níveis mais elevados de PCR (0.6 vs. 1.4 mg/dL, p = 0.03), velocidade de sedimentação (VS) (22 vs. 31 mm/h, p = 0.03) e iHB (2 vs. 5, p < 0.001), e mais baixos de hemoglobina (13.6 vs. 12.7 g/dL, p = 0.02). Não se verificou associação entre deficiáncia de vitamina D e sexo, tipo, extensão e duração da doença, cirurgia, e outras medidas de atividade da doença como VS, hemoglobina (estas duas exceto para DG), calprotectina fecal ou classificação Truelove e Witts. CONCLUSÕES: Registou-se prevaláncia alta de níveis inadequados de vitamina D na DII, particularmente de deficiáncia (68.4%). Parece existir associação entre níveis mais baixos de vitamina D e maior atividade da doença, nomeadamente na DC.

Recurrent Gastrointestinal Bleeding from Dieulafoy's Lesions in a Patient with Type 1 von Willebrand Disease: A Rare Association.

Von Willebrand disease (vWD) is the most prevalent hereditary bleeding disorder, affecting 0.6-1.3% of the population. While gastrointestinal bleeding from angiodysplasia is a well-known complication of vWD, the same is not true for Dieulafoy's lesions (DLs). We report the case of a 21-year-old black male with type 1 vWD and 2 previous hospital admissions for severe anemia with no visible blood loss. In both episodes, DLs were identified and treated endoscopically, one in the stomach and another in the duodenum. The patient presented to the emergency department in September 2016 with dizziness, fatigue, and again no visible blood loss. He was hemodynamically stable, and laboratory workup showed a hemoglobin level of 3.4 g/dL. After transfusion of packed red blood cells, intravenous iron, and von Willebrand factor/factor VIII concentrate infusions, the patient underwent upper endoscopy and colonoscopy, which were normal. Small-bowel capsule endoscopy showed dark blood and a fresh clot in the proximal jejunum. At this site, push enteroscopy identified a pulsatile vessel with an overlying minimal mucosal defect, consistent with a DL, type 2b of the Yano-Yamamoto classification, which was successfully treated with adrenaline and 2 hemoclips. The patient remains stable after 18 months of follow-up, with a hemoglobin level of 13.2 g/dL. This is a case of recurrent severe occult gastrointestinal bleeding from multiple DL in a young patient with vWD who is otherwise healthy. Three other cases of DL bleeding in the setting of vWD have been reported in the literature, suggesting a possible association between these 2 entities.

A doença de von Willebrand é a perturbação hemorrágica hereditária mais frequente, afetando 0.6 a 1.3% da população. A hemorragia por angiectasias do tubo digestivo é uma complicação bem estabelecida desta doença. Contudo, o mesmo não é verdade para as lesões de Dieulafoy. Apresentamos o caso de um doente de 21 anos, melanodérmico, com doença de von Willebrand tipo 1 e dois internamentos prévios por anemia grave sem perdas hemáticas visíveis. Em ambos os episódios foram identificadas lesões de Dieulafoy que foram tratadas endoscopicamente, uma das quais no estômago e outra no duodeno. O doente foi admitido no serviço de urgáncia em Setembro de 2016 por quadro de tonturas e cansaço, novamente sem perdas visíveis. Apresentava-se hemodinamicamente estável e a avaliação laboratorial mostrou hemoglobina de 3.4 g/dL. Após transfusão de concentrados eritrocitários, terapáutica com ferro endovenoso e concentrados de fator de von Willebrand/fator VIII, foram realizadas endoscopia digestiva alta e colonoscopia, sem alterações. A enteroscopia por cápsula detetou a presença de sangue digerido e um coágulo fresco no jejuno proximal. A enteroscopia de pulsão identificou nessa topografia uma solução de continuidade da mucosa milimétrica sobre lesão vascular pulsátil procidente, compatível com lesão de Dieulafoy tipo 2b da Classificação de Yano-Yamamoto, que foi tratada eficazmente com adrenalina e dois hemoclips. Após 18 meses, o doente mantém-se clinicamente estável e com Hb 13.2 g/dL. Este é um caso particular de hemorragia gastrointestinal oculta recorrente por múltiplas lesões de Dieulafoy num jovem com doença de von Willebrand, sem outras patologias. Há trás casos semelhantes descritos na literatura, sugerindo uma possível associação entre estas duas entidades.

Successful treatment of severe perianal Crohn's disease with infliximab in an HIV-positive patient.

We present the case of a woman infected with the HIV type 1, controlled with highly active antiretroviral therapy. In the meantime, she developed a severe perianal disease, with complex fistulae and chronic anal fissures. After developing a severe chronic diarrhea, a total ileocolonoscopy with biopsies was performed, showing multiple ileal and segmental colonic erosions. Histology favoured a Crohn's disease diagnosis. Despite the limited experience of anti-tumour necrosis factor agents in the HIV-infected population, infliximab was started in this patient, due to her severe and symptomatic Crohn's disease, with a controlled HIV infection. No side effects were reported and her bowel movements and perianal disease improved right after induction regimen with infliximab. 1 year after starting this therapy she is in clinical and endoscopic remission. The CD4+ T-cell count remained stable, the HIV-RNA undetectable and no opportunistic infections were reported during follow-up period. Data concerning the use of anti-tumour necrosis factor drugs is limited in patients with both inflammatory bowel disease and HIV infection. Only three cases of Crohn's disease and concomitant HIV infection treated with infliximab were reported in the literature. This case report might help future decisions in patients with a similar clinical situation.

Outcomes of Single-Operator Cholangioscopy-Guided Lithotripsy in Patients with Difficult Biliary and Pancreatic Stones.

BACKGROUND AND AIMS: Endoscopic retrograde cholangiopancreatography is the preferred strategy for the management of biliary and pancreatic duct stones. However, difficult stones occur, and electrohydraulic (EHL) and laser lithotripsy (LL) have emerged as treatment modalities for ductal clearance. Recently, single-operator cholangioscopy was introduced, permitting the routine use of these techniques. We aimed to evaluate the clinical effectiveness of cholangioscopy-guided lithotripsy using LL or EHL in patients with difficult biliary or pancreatic stones. METHODS: This is a prospective clinical study - conducted at two affiliated university hospitals - of 17 consecutive patients with difficult biliary and pancreatic stones who underwent single-operator cholangioscopy-guided lithotripsy using two techniques: holmium laser lithotripsy (HL) or bipolar EHL. We analyzed complete ductal clearance as well as the impact of the location and number of stones on clinical success and evaluated the efficacy of the two techniques used for cholangioscopy-guided lithotripsy and procedural complications. RESULTS: Twelve patients (70.6%) had stones in the common bile duct/common hepatic duct, 2 patients (17.6%) had a stone in the cystic stump, and 3 patients (17.6%) had stones in the pancreas. Sixteen patients (94.1%) were successfully managed in 1 session, and 1 patient (5.9%) achieved ductal clearance after 3 sessions including EHL, LL, and mechanical lithotripsy. Eleven patients were successfully submitted to HL in 1 session using a single laser fiber. Six patients were treated with EHL: 4 patients achieved ductal clearance in 1 session with a single fiber, 1 patient obtained successful fragmentation in 1 session using two fibers, and 1 patient did not achieve ductal clearance after using two fibers and was successfully treated with a single laser fiber in a subsequent session. Complications were mild and were encountered in 6/17 patients (35.2%), including fever (n = 3), pain (n = 1), and mild pancreatitis (n = 1). Conclusions: Cholangioscopy-guided lithotripsy using LL or EHL in patients with difficult biliary or pancreatic stones is highly effective with transient and minimal complications. There is a clear need to further compare EHL and HL in order to assess their role in the success of cholangioscopy-guided lithotripsy.

INTRODUÇÃO: A CPRE é o exame preferencial para a remoção de cálculos biliares e pancreáticos. Em situações de cálculos difíceis foram propostas novas modalidades terapêuticas como a litotrícia electro-hidráulica (LEH) e a litotrícia por laser (LL). Recentemente a disponibilidade da colongioscopia de operador-único tornaram estas técnicas mais acessíveis e fáceis de realizar. Procuramos avaliar a eficácia clínica de litotrícia guiada por colangioscopia recorrendo á LEH ou á LL em doentes com cálculos biliares e pancreáticos difíceis. MÉTODOS: Estudo prospetivo, conduzido em 2 Hospitais associados á Universidade e englobando 17 doentes consecutivos com cálculos difíceis biliares e pancreáticos, estes doentes foram tratados com litotrícia guiada por colangioscopia recorrendo a LEH ou LL. Analisamos a limpeza completa dos ductos, bem como o impato do número de pedras e localização no sucesso clínico, associada á avaliação das 2 técnicas de litotrícia e complicações desta abordagem terapêutica. RESULTADOS: Doze doentes (70.6%) tinham cálculos no colédoco/hepático comum, 2 doentes (17.6%) tinham um cálculo único no coto do cístico e 3 doentes (17.6%) apresentavam cálculos pancreáticos. Dezasseis (94.1%) doentes foram tratados com sucesso numa única sessão e o restante (5.9%) doente necessitou de 3 sessões incluído LEH, LL e litotrícia mecânica para obter limpeza dos ductos. Onze doentes foram tratados com LL e obtiveram sucesso clínico numa única sessão com uma fibra única de laser. Seis doentes foram tratados com LEH: 4 doentes obtiveram sucesso clínico numa única sessão com 1 fibra; 1 doente necessitou de 2 fibras para obter limpeza ductal numa sessão única. O último doente falhou a limpeza dos ductos com duas fibras de LEH e necessitou de sessão adicional com Laser (uma fibra) para obter fragmentação adequada dos cálculos. As complicações foram ligeiras em 6/17 (35.2%) doentes e incluíram febre (n = 4), dor (n = 1) e pancreatite ligeira (n = 1). Conclusões: A litotrícia guiada por colangioscopia com recurso a LEH ou LL em doentes com cálculos difíceis biliares e pancreáticos é muito eficaz e está associada a complicações transitórias e ligeiras. Existe clara necessidade de realizar estudos comparativos entre LEH e LL.

Endoscopy Timing in Patients with Acute Upper Gastrointestinal Bleeding.

BACKGROUND/AIMS: The role of very early (≤12 hours) endoscopy in nonvariceal upper gastrointestinal bleeding is controversial. We aimed to compare results of very early and early (12-24 hours) endoscopy in patients with upper gastrointestinal bleeding demonstrating low-risk versus high-risk features and nonvariceal versus variceal bleeding. METHODS: This retrospective study included patients with nonvariceal and variceal upper gastrointestinal bleeding. The primary outcome was a composite of inpatient death, rebleeding, or need for surgery or intensive care unit admission. Endoscopy timing was defined as very early and early. We performed the analysis in two subgroups: (1) high-risk vs. low-risk patients and (2) variceal vs. nonvariceal bleeding. RESULTS: A total of 102 patients were included, of whom 59.8% underwent urgent endoscopy. Patients who underwent very early endoscopy received endoscopic therapy more frequently (p=0.001), but there was no improvement in other clinical outcomes. Furthermore, patients at low risk and with nonvariceal bleeding who underwent very early endoscopy had a higher risk of the composite outcome. CONCLUSION: Very early endoscopy does not seem to be associated with improved clinical outcomes and may lead to poorer outcomes in specific populations with upper gastrointestinal bleeding. The actual benefit of very early endoscopy remains controversial and should be further clarified.

A Rare Cause of Abdominal Pain in a Patient with Acute Necrotizing Pancreatitis.

INTRODUCTION: Walled-off necrosis (WON) is a potentially lethal late complication of acute pancreatitis (AP) and occurs in less than 10% of AP cases. It can be located in or outside the pancreas. When infected, the mortality rate increases and can reach 100% if the collection is not drained. Its treatment is complex and includes, at the beginning, intravenous antibiotics, which permit sepsis control and a delay in the therapeutic intervention, like drainage. Nowadays, a minimally invasive approach is advised. Depending on the location of the collection, computed tomography (CT)-guided drainage or endoscopic necrosectomy are the primary options, then complemented by surgical necrosectomy if needed. Infected WON of the abdominal wall has been rarely described in the literature and there is no report of any infection with Citrobacter freundii. CASE: We present the case of a 61-year-old man with necrotizing AP complicated by WON of the left abdominal wall, infected with Citrobacter freundii that was successfully treated with CT-guided percutaneous drainage and intravenous antibiotics. CONCLUSION: Infected WON accounts for considerable mortality and its location in the abdominal wall is rare; it can be treated with antibiotics and CT-guided drainage with no need for further intervention.

INTRODUÇÃO: A necrose pancreática coletada (NPC) é uma complicação potencialmente fatal da pancreatite aguda (PA) e ocorre em menos de 10% dos casos. Pode estar localizada dentro ou fora do pâncreas. Quando infetada, a mortalidade aumenta, podendo atingir os 100% se a coleção não for drenada. O seu tratamento é complexo e inclui, de início, antibioterapia intravenosa que permite o controlo da sepsis e um atraso na terapêutica de intervenção, como a drenagem. Atualmente é aconselhada uma abordagem minimamente invasiva. Dependendo da localização da coleção, a drenagem guiada por tomografia computorizada (TC) ou a necrosectomia endoscópica são as opções de primeira linha, posteriormente complementadas por necrosectomia cirúrgica, caso seja necessário. A NPC infetada na parede abdominal foi raramente descrita na literatura e não existe até ao momento nenhum caso de uma NPC infetada por Citrobacter freundii. CASO: Apresentamos o caso de um doente do sexo masculino de 61 anos com uma PA necrotizante complicada por NPC da parede abdominal esquerda, infetada por Citrobacter freundii, que foi tratada com sucesso através de drenagem percutânea guiada por TC e antibioterapia intravenosa. CONCLUSÃO: A NPC infetada condiciona mortalidade considerável e a sua localização na parede abdominal é rara; pode ser tratada através de antibioterapia e drenagem percutânea guiada por TC, sem necessidade de intervenção posterior.

A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations.

The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis. The case refers to a healthy 39-year-old Caucasian male who presented with abdominal pain and jaundice. His blood tests showed conjugated hyperbilirubinemia and elevated liver enzymes (total bilirubin 6.65 mg/dL, γ-glutamyltransferase 699 IU/L) and abdominal computed tomography revealed dilation of common bile duct and left intrahepatic ducts. Magnetic resonance cholangiopancreatography identified choledocholithiasis, retrieved by endoscopic retrograde cholangiopancreatography, after which there was a worsening of jaundice (total bilirubin 23 mg/dL), which persisted for several weeks, possibly due to ciprofloxacin toxicity. After an extensive workup including liver biopsy, the identification of two foci of hepatolithiasis on reevaluation abdominal ultrasound raised the hypothesis of LPAC syndrome and the patient was started on ursodeoxycholic acid, with remarkable improvement. Genetic testing identified the mutation c.1954A>G (p.Arg652Gly) in ABCB4 gene (homozygous) and c.1331T>C (p.Val444Ala) in ABCB11 gene (heterozygous). In conclusion, we describe the unique case of an adult male with choledocholithiasis, hepatolithiasis, and persistent conjugated hyperbilirubinemia after retrieval of stones, fulfilling the criteria for LPAC syndrome and with possible superimposed drug-induced liver injury, in whom ABCB4 and ABCB11 mutations were found, both of which had not been previously described in association with LPAC.

A síndrome low-phospholipid-associated cholelithiasis (LPAC) é uma forma de coledocolitíase sintomática que ocorre em adultos jovens e que se caracteriza pela recorrência de sintomas após a colecistectomia e pela presença de hepatolitíase. O caso refere-se a um homem caucasiano de 39 anos, saudável, que se apresentou com um quadro de dor abdominal e icterícia. A avaliação laboratorial mostrou hiperbilirrubinémia conjugada e um padrão citocolestático (bilirrubina total 6,65 mg/dL; GGT 699 UI/L) e a tomografia computorizada abdominal revelou dilatação da via biliar principal e vias biliares intra-hepáticas à esquerda. A colangiopancreatografia por ressonância magnética identificou coledocolitíase, extraída por colangiopancreatografia retrógrada endoscópica, tendo-se verificado posterior agravamento da icterícia (bilirrubina total 23 mg/dL) que persistiu por várias semanas, possivelmente por hepatotoxicidade associada à toma de ciprofloxacina. Após uma extensa investigação, incluindo a realização de biópsia hepática, foram identificados dois focos de hepatolitíase em ecografia abdominal de reavaliação, pelo que se colocou a hipótese de LPAC e o doente iniciou terapêutica com ácido ursodesoxicólico, com excelente resposta. O estudo genético identificou a mutação c.1954A>G (p.Arg652Gli) no gene ABCB4 em homozigotia e a mutação c.1331T>C (p.Val444Ala) no gene ABCB11 em heterozigotia. Em suma, descrevemos o caso único de um homem com coledocolitíase, hepatolitíase e hiperbilirribinémia conjugada persistente mesmo após extracção de cálculos, cumprindo critérios de LPAC e possivelmente com sobreposição de lesão hepática induzida por fármacos, tendo-se documentado mutações nos genes ABCB4 e ABCB11, cuja associação com LPAC não havia sido previamente descrita.

Endometriosis: A Rare Cause of Large Bowel Obstruction.

Large bowel obstruction can result in significant morbidity and mortality, especially in cases of acute complete obstruction. There are many possible causes, the most common in adults being colorectal cancer. Endometriosis is a benign disease, and the most affected extragenital location is the bowel, especially the rectosigmoid junction. However, transmural involvement and acute occlusion are very rare events. We report an exceptional case of acute large bowel obstruction as the initial presentation of endometriosis. The differential diagnosis of colorectal carcinoma may be challenging, and this case emphasizes the need to consider intestinal endometriosis in females at a fertile age presenting with gastrointestinal symptoms and an intestinal mass causing complete large bowel obstruction.

A obstrução do cólon pode causar morbilidade e mortalidade significativas, especialmente em casos de obstrução aguda completa. Existem diversas causas, sendo a mais comum em adultos o cancro colorretal. A endometriose é uma doença benigna e o intestino é a localização extragenital mais afectada pela doença, sobretudo ao nível da transição rectossigmoideia. Contudo, o envolvimento transmural e oclusão aguda são situações extretamente raras. O diagnóstico diferencial com cancro colorretal pode ser desafiante e este caso enfatiza a necessidade de considerar a endometriose intestinal em mulheres em idade fértil com sintomas gastrointestinais e a presença de uma massa intestinal a causar obstrução completa do cólon.