Splenic abscesses in children are rare. In recent years aseptic abscesses have been recognized as a new disease entity, especially in adults.
We present a rare case of a 15 year old girl with aseptic abscesses, in whom antibiotic therapy comprising metronidazole and meropenem was partly beneficial in improving the patient’s clinical condition and inflammatory parameters. Eventually corticosteroid therapy led to complete and long lasting resolution of symptoms. Further diagnostic work-up revealed autoimmune thyroiditis, but no signs of inflammatory bowel disease.
Aseptic splenic abscesses should always prompt clinicians to initiate further diagnostics to determine a potential underlying condition and a regular follow-up. Anaerobic bacteria may play a role in the pathogenesis of the disease and besides corticosteroid treatment antibiotics covering anaerobes may be beneficial.
Abscess; Aseptic; Anaerobic bacteria; Metronidazole; Inflammatory bowel disease
Brunner’s gland hamartoma is a rare tumor, predominantly found in the fifth to sixth decades of life. Generally, it is a single pedunculated polyp, rarely larger than 5 cm. Asymptomatic cases are found incidentally, but cases with a large polyp tend to have gastrointestinal bleeding and/or obstructive symptoms. Polyp size increases in a time-dependent manner, however, the growth mechanism is unknown. We report a Japanese male case in his mid-twenties with an over 6 cm sized polyp.
A 26-year-old man presented black stools and anemia. Endoscopic examination revealed a large pedunculated polyp at gastroduodenal junction. The polyp, subsequently resected by distal gastrectomy, was lobulated with random surface erosions and sized 6.4 × 3 cm. Histological examination revealed that the polyp arose from duodenal mucosa and was composed of hyperplastic Brunner’s glands in lobules separated by fibromuscular septa, associated with lymphocytic infiltrate and lymphoid follicles. No evidence of malignancy was found. Thus, the lesion was diagnosed as Brunner’s gland hamartoma. Further immunohistochemical studies indicated that gastric foveolar metaplasia is associated with surface epithelium covering upper two thirds of the polyp, showing immunohistochemical positivity for mucin 5 AC (MUC5AC). Below the metaplastic surface epithelium, Brunner’s glands had high proliferative activity (MIB-1 labeling index: 7.9%). The similar staining pattern was observed at surface erosive sites (MIB-1 labeling index in Brunner’s glands: 9%). On the other hand, surface epithelium in the lower side of the polyp still preserved intestinal nature, containing CDX2-positive nuclei and MUC2-positive goblet cells. Brunner’s glands below the surface epithelium with intestinal characteristics showed low proliferative activity (MIB-1 labeling index: 0.77%).
Proliferative activity of Brunner’s glands was high at the sites with surface erosion and also below the epithelium showing gastric foveolar metaplasia. As gastric foveolar metaplasia occurs along with a mucosal repair process in the duodenum, mucosal damages underlay the hamartomatous proliferation of Brunner’s glands and eventually resulted in a formation of large polypoid mass in this case.
Brunner’s gland hamartoma; Brunner’s glands; Gastric foveolar metaplasia; MUC5AC; MIB-1; Mucosal damage
Both autoimmune pancreatitis (AIP) and primary biliary cirrhosis (PBC) are related to various diseases. But the concurrence of AIP and PBC is extremely rare, with only 2 cases reported. Here we report the concurrence of AIP and PBC in a Chinese patient for the first time.
A 65-year-old male was admitted to our hospital with jaundice, pruritus, mild abdominal pain and darkening urine. Serum alkaline phosphatase, γ-glutamyltransferase, bilirubin and IgG4 were prominently elevated. The antimitochondrial antibody was positive. Radiological examination revealed diffusive enlargement of the pancreas. Pancreatic biopsy showed lymphoplasmacytic infiltration, fibrosis and abundant IgG4+ plasma cells. The patient was diagnosed with AIP and PBC. Nasobiliary tube was placed to facilitate biliary drainage. A combination therapy of steroid and UDCA was administered and the patient was gradually recovered, during which the patient was complicated with biliary infecion, herpes zoster and pulmonary abscess.
We present this case together with literature evidence to support the concurrence of AIP and PBC, share our experience of using combination therapy with steroid and UDCA, and raise the awareness of infectious complications in immunosuppressed patients.
Autoimmune pancreatitis; Primary biliary cirrhosis; Steroid; Ursodeoxycholic acid; Infection
Bisphosphonates have a widespread indication for osteoporosis and are also applied in cancer patients with skeletal-related conditions. Bisphosphonate-associated osteonecrosis of the jaw (BRONJ) is a feared side effect which is hard to treat and often affects patient´s quality of life in an extensive manner. Adalimumab (Humira®), a fully human recombinant antibody specific for tumor necrosis factor- α, is approved for treatment in patients with Inflammatory Bowel Disease like ulcerative colitis or Crohn’s disease.
In March 2013, a 36-year-old female presented with right-sided perimandibular swelling, recurrent facial pain and exposed necrotic bone after previous extraction of tooth 47. She had the medical history of Crohn’s disease for more than one decade with chronic active enterocolitis, fistula disease as well as previous oral manifestation and was currently treated with Adalimumab since September 2008. Due to steroid-induced osteoporosis, diagnosed in 2004, she received oral Bisphosphonates (Risedronate) from 2004 until 2007 followed by two infusions of Zoledronic acid in 2008 and 2009.
This patient with a medical history of Crohn’s disease and gastrointestinal remission under Adalimumab therapy presented with osteonecrosis of the jaw after suspended oral and intravenous Bisphosphonate therapy implicating that the biologic therapy with an anti-TNF-α antibody might promote the manifestation of osteonecrosis and compromise oral healing capacity.
Osteonecrosis of the jaw; Bisphosphonate; Adalimumab; Crohn’s disease
Allopurinol is a frequently prescribed drug. In inflammatory bowel disease patients who shunt thiopurine metabolism towards more toxic and less desirable pathways, allopurinol is proving to be an effective add on therapy with good resultant disease control and less treatment side effects. As many such patients are young, the potential for pregnant women to be exposed to allopurinol is increasing. The safety of allopurinol in pregnancy is not known however.
We report three cases of safe use of allopurinol in pregnancy for women with inflammatory bowel disease. This included 2 patients with ulcerative colitis and 1 patient with fistulising Crohn’s disease. Allopurinol was used throughout pregnancy in all patients. All 3 pregnancies resulted in normal healthy babies born at term by Caesarean section.
It is important to evaluate and document the safety of allopurinol during pregnancy, as it is finding new roles in young patients. These three cases add significantly to the very limited data on allopurinol use in pregnancy. We encourage reporting of all cases of allopurinol use in pregnant patients and suggest an allopurinol pregnancy registry to document drug exposures and outcomes.
Allopurinol; Pregnancy; Teratogen; Inflammatory bowel disease; Ulcerative colitis; Azathioprine; 6-mercaptopurine
Metastatic penile carcinoma derived from cholangiocarcinoma (CCA) has not been previously reported in the literature. Common metastatic sites for CCA include the regional lymph nodes and adjacent organs. CCAs are not highly vascularised tumours, making hematogenous metastases uncommon. Hematogenous CCA metastases commonly occur at distant organs such as the lungs, adrenal glands, and bones. Median survival for patients with metastatic disease is generally less than 1 year.
A 74-year-old Caucasian man consulted us after having undergone penile ultrasonography for pain and increased thickness at the base of the penis after self-examination. The patient presented with a history of hepatitis C-related cirrhosis and intrahepatic CCA, diagnosed 3 years previously. A biopsy of the corpora cavernosa on both sides revealed a carcinoma harbouring the same histological and immunophenotypical features as the primary hepatic lesion.
To date, there is no case of penile or urogenital system metastasis from CCA described in the literature. Therefore, this article represents the first case report of penile metastasis from CCA.
Cholangiocarcinoma; Elastography; Magnetic resonance; Penile metastases
Histological regression of solid tumors in adults receiving no treatment is rare. Specifically, spontaneous partial and complete regression of colorectal cancers account for less than 2% of such cases and those without metastasis are exceedingly rare.
A 60-year-old male underwent total colonoscopy following a positive fecal occult blood test at the referring hospital. A flat elevated lesion with central reddish depression, 10 mm in diameter, was detected in the lower rectum. Biopsy results from the referring hospital showed a well-differentiated adenocarcinoma and the patient was referred to our hospital for diagnosis and treatment. Preoperative colonoscopy was performed to determine the therapeutic strategy; however, we found only scar tissue and there were no endoscopic features to suggest malignancy. Biopsy from the scar revealed normal rectal mucosa and we performed diagnostic endoscopic submucosal resection with a ligation device (ESMR-L) one week later. The resected specimen showed a 1 mm well-differentiated adenocarcinoma with low-grade atypia and no lymphovascular invasion. The macroscopic type was 0-IIb, the depth of invasion was intramucosal, and the vertical and lateral margins were negative. There has been no evidence of recurrence for 18 months following treatment.
We report a case of a rectal tumor showing regression over a short period without treatment. Spontaneous regression of malignant tumors is a rare and unexplained phenomenon. Further research and understanding of the mechanism holds the key for treatment and prevention of cancer in the future.
Rectal tumor; Regression; Endoscopic submucosal resection with a ligation device (ESMR-L)
Non-steroidal anti-inflammatory drugs (NSAIDs), the most widely prescribed drugs in the world, can cause gastrointestinal damage, including colitis. However, the prevalence of NSAID-induced colitis is unknown because the disease is often asymptomatic.
We report the case of a 64-year-old female patient with a history of long-term NSAID use, who was hospitalized with septic shock caused by Klebsiella pneumoniae bacteremia. Computed tomography revealed multiple renal and splenic abscesses with diffuse colon wall thickening. A colonoscopy confirmed colitis with diffuse ulcers. NSAIDs were discontinued after this hospitalization. The abscesses improved after antibiotic treatment. A short course of balsalazide treatment was given under the suspicion of ulcerative colitis. Balsalazide was discontinued four months later due to a non-compatible clinical course. A follow-up colonoscopy two years later revealed a normal colon mucosa, and NSAID-induced colitis was diagnosed.
This is the first reported case of combined bacterial splenic and renal abscesses without intestinal manifestations as the initial presentation of NSAID-induced colitis. In contrast to cases of K. pneumoniae bacteremia with primary liver abscesses in patients with diabetes mellitus in Taiwan, we presented the first case with abscesses caused by community-acquired K. pneumoniae in the kidneys and spleen without liver invasion. In conclusion, our case report alerts clinicians to the possibility that K. pneumoniae bacteremia combined with multiple abscesses can be associated with severe NSAID-induced colitis.
Non-steroidal anti-inflammatory drugs; Colitis; Bacteremia; Klebsiella pneumoniae; Renosplenic abscesses
Laterally spreading tumors (LSTs) are generally defined as superficial lesions ≥10 mm in diameter that typically extend laterally rather than vertically along the colonic wall. LSTs are usually categorized into 2 subtypes: granular type and nongranular type. Large nodules or depressed areas in granular-type LSTs (LST-Gs) are endoscopic findings of a cancerous component and sometimes represent submucosal invasion. However, the lateral growth and development of LST-Gs remains unclear.
This case report describes a case of 79-year-old woman who underwent total colonoscopy due to a positive fecal occult blood test and was detected a LST-G, about 30 mm in diameter in the lower rectum. The lesion consisted of not only aggregated small and large nodules typically seen in LST-Gs but also the hardly elevated flat parts. In the flat part, there were dilated round pits and no evident capillary vessels. Three months later, the flat part increased in height, the dilated round pits were partly replaced by type IIIL pits, and capillary vessels were evident. The lesion was removed by endoscopic submucosal dissection, and diagnosed pathologically as tubular adenoma. We performed the sequence analyses on KRAS, BRAF, NRAS and PIK3CA genes in flat part and nodular part separately, and a mutation of KRAS gene at codon 146 was observed at only nodular part, suggesting probable that nodular part be a precancerous lesion.
This is a unique and suggestive case, providing information on progression of LST-Gs at the very early stage to carcinogenesis.
Massive upper gastrointestinal hemorrhage can be the dominant symptom of decompensated liver cirrhosis, varices and ulcerations in the upper gastrointestinal tract. Postoperative complications are known to lead to these bleedings. Commonly, emergency endoscopy will be performed. Here we report of a patient with extensive bleeding caused by an aneurysma spurium of the arteria hepatica dextra induced by a laparoscopic cholecystectomy. The condition was diagnosed by the Doppler ultrasound scan of the liver.
Initially the source of the gastrointestinal bleeding was caused by an ulcus Dieulafoy in the jejunum which was stopped by clipping. Continous bleeding was observed and traced to a rare complication of a laparoscopic cholecystectomy due to a gallbladder empyema. After surgical intervention the patient developed an aneurysma spurium of the arteria hepatica dextra which was in communication with the small bowel. The successful treatment was performed by embolizing the aneurysma.
The reasons for gastrointestinal bleedings are manifold. This case presents a seldom cause of a gastrointestinal bleeding due to an aneurysma of the hepatic arteria. The successful embolization was performed to ultimately stop the bleeding.
Aneurysma spurium; Arteria hepatica; Upper gastrointestinal bleeding; Laparoscopic cholecystectomy
Endovascular revascularization has recently been established as a less invasive treatment method for chronic mesenteric ischemia. However, intestinal necrosis caused by distal embolization following this procedure has not been emphasized.
The present report describes a 59-year-old man who was treated with endovascular revascularization for chronic mesenteric ischemia. After the procedure, he was diagnosed with intestinal necrosis caused by distal embolization. Despite emergent bowel resection, he died on postoperative day 109.
Although endovascular revascularization for chronic mesenteric ischemia is less invasive and may be suitable for high-risk patients, attention should be paid to avoid embolic complications that can cause intestinal infarction possibly leading to a fatal condition.
Chronic mesenteric ischemia; Endovascular revascularization; Embolization; Bowel necrosis; Embolic protection device
Hereditary diffuse gastric carcinoma is an autosomal dominant cancer syndrome associated with mutations of the E-cadherin gene (CDH1). E-cadherin is normally involved in cell-cell adhesion, so it not surprising that individuals with this syndrome are predisposed to develop malignancies with dyshesive morphologies at a young age, such as diffuse (signet ring cell) gastric carcinoma and lobular breast carcinoma. Herein we describe the first reported case of primary appendiceal signet ring cell carcinoma arising in a CDH1-associated hereditary diffuse gastric carcinoma kindred with synchronous primary diffuse gastric carcinoma.
A 51- year old woman, with known CDH1 mutation carrier status and a prior history of lobular breast carcinoma underwent prophylactic total gastrectomy which revealed multifocal intramucosal signet ring cell carcinoma. An appendectomy was performed at the same time due to a prior episode of presumed appendicitis, with pathologic examination significant for a primary signet ring cell carcinoma of the appendix.
As appendiceal signet ring cell carcinoma is exceedingly rare, the occurrence of this neoplasm in this patient, with this particular morphology, provides credence for it being part of the hereditary diffuse gastric carcinoma spectrum of malignancies.
Hereditary diffuse gastric carcinoma; CDH1; Signet ring cell carcinoma; Appendix; Familial cancer
Hemorrhagic complications during EUS-guided pseudocyst drainage can occur, because the vessels on the internal wall of the pseudocyst might be compressed by the fluid and thus not visible on color Doppler or even power Doppler EUS.
We report a case of an immediate internal spurting arterial bleeding precipitated during EUS-guided pseudocyst drainage which stopped instantaneously by placement of a double flanged covered self-expandable metal stent through mechanical hemostasis.
In an unusual situation of bleeding from collateral circulation near the pseudocyst wall during pseudocyst drainage, the placement of an expandable metal stent proved to be useful.
Endoscopic ultrasound; Pancreatic pseudocyst; Upper gastrointestinal bleeding; Portal hypertension
Orbital myositis is a rare extra-intestinal manifestation of inflammatory bowel disease. Seventeen cases of Crohn’s disease associated orbital myositis and 3 cases of ulcerative colitis associated orbital myositis have been reported in the published literature since 1970. We report the use of adalimumab (Abbott, Canada, Inc.) for orbital myositis in a patient with Crohn’s disease who discontinued infliximab (Janssen, Canada, Inc.) and review of the published literature.
A 35 year-old male with a 7-year history of Crohn’s disease was treated with an ileocolonic resection and re-anastomosis followed by infliximab which maintained full endoscopic and clinical remission for four years. After stopping the infliximab for infusion-related reactions he presented with 3-day history of severe right eye pain, pain with ocular movement, proptosis, and conjunctival injection. He had no intestinal symptoms and endoscopic assessment revealed no active luminal disease. CT of the orbit revealed an enlarged right medial rectus muscle with tendonous involvement and a diagnosis of orbital myositis was made. Treatment with 80 mg per day prednisone with tapering dose and adalimumab, induction and maintenance, resulted in rapid resolution of the orbital myositis and ocular symptoms with no recurrences on follow-up at 10 months.
The current case demonstrates a rare extraintestinal manifestation of Crohn’s disease, orbital myositis, and its temporal relationship to the discontinuance of infliximab therapy and its successful treatment, without recurrence with tapering prednisone and adalimumab.
Crohn’s disease; Ulcerative colitis; Orbital myositis; Extraintestinal manifestations; Inflammatory bowel disease; Infliximab; Adalimumab
Haemobilia usually occurs secondary to accidental or iatrogenic hepatobiliary trauma. It can occasionally present with cataclysmal upper gastrointestinal haemorrhage posing as a life threatening emergency. Haemobilia can very rarely be a complication of acute cholecystitis. Here we report a case of haemobilia manifesting as massive gastrointestinal haemorrhage in a patient without any prior history of biliary surgery or intervention and present a brief review of literature.
A 22 year old male admitted with history suggestive of acute cholecystitis subsequently developed waxing waning jaundice and recurrent episodes of upper gastrointestinal bleed. Endoscopy showed an ulcer in the first part of duodenum with a clot, no active bleed was visible. Angiography was suggestive of a ruptured pseudoaneurysm in the vicinity of the right hepatic artery probably originating from the cystic artery. Coil embolization was tried but the coil dislodged into the right branch of hepatic artery distal to the site of pseudoaneurysm. Review of angiographic video in light of operative findings demonstrated a fistulous communication between cystic artery and gallbladder as the cause, a simultaneous cholecystoduodenal fistula was also noted. Retrograde cholecystectomy, closure of cholecystoduodenal fistula and right hepatic arteriotomy with retrieval of the endo-coil and hepatic arterial repair was performed.
Fistula between the cystic artery and gallbladder has been commonly reported to occur after laparoscopic cholecystectomy. Spontaneous fistulous communication, i.e. in the absence of any prior trauma or intervention, between cystic artery and gallbladder is rare with very few reports in literature. Aetiopathogenesis of the disease, in the context of current literature is reviewed. The diagnostic dilemma posed by the confounding finding of an ulcer in the duodenum, the iconic video angiographic depiction as also the therapeutic challenge of a failed embolization with consequent microcoil migration and primary hepatic arterial repair in the emergency situation is discussed.
Cystic artery; Pseudoaneurysm; Haemobilia; Cholecystitis; Gastrointestinal; Haemorrhage
Microscopic polyangiitis is characterized by pauci-immune, necrotizing small-vessel vasculitis and an anti-neutrophil cytoplasmic antibody-associated vasculitis. Although gastrointestinal involvement in microscopic polyangiitis is not rare, endoscopic observation of it is extremely rare. To the best of our knowledge, this is the first case report of small intestinal involvement in microscopic polyangiitis detected and followed up by double-balloon endoscopy.
A 70-year-old Japanese woman was transferred to our hospital for close examination of suspected small intestinal lymphoma. Retrograde double-balloon endoscopy revealed various forms of ulcers with redness and edema in the ileum. Histological findings suggested ischemic changes. Because mononeuritis multiplex and a fever spike appeared later, vasculitis was suspected. The perinuclear anti-neutrophil cytoplasmic antibody titer was elevated. Nerve biopsy results suggested vasculitis. From these findings, microscopic polyangiitis was diagnosed. It was suggested that microscopic polyangiitis caused the intestinal involvement. Intravenous pulse cyclophosphamide and oral predonisolone were started. After treatment, perinuclear anti-neutrophil cytoplasmic antibodies decreased to the normal range. Retrograde double-balloon endoscopy after treatment showed ulcer scars and no ulcer.
The cause of gastrointestinal involvement in microscopic polyangiitis is ischemia due to vasculitis. It is difficult to diagnose small-vessel vasculitis by endoscopic biopsy. Although histological evidence of microscopic polyangiitis is important, the treatment should not be delayed by repeating the biopsy, because such delay can result in adverse sequela.
This case report shows that microscopic polyangiitis should be considered as a differential diagnosis when small intestinal changes like those in the present case are observed by endoscopy.
Microscopic polyangiitis; Double-balloon endoscopy; Small intestinal involvement; ANCA-associated vasculitides
The cavitating mesenteric lymph node syndrome (CMLNS) is a rare manifestation of celiac disease, with an estimated mortality rate of 50%. Specific infections and malignant lymphoma may complicate its clinical course and contribute to its poor prognosis. Diagnosing the underlying cause of CMLNS can be challenging. This is the first report on contrast enhanced ultrasound (CEUS) findings in enteropathy associated T-cell lymphoma (EATL) complicating CMLNS in a gluten-free compliant patient with persistent symptoms and poor outcome.
We present the case of a 51-year old Caucasian male patient, diagnosed with celiac disease and CMLNS. Despite his compliance to the gluten-free diet the symptoms persisted and we eventually considered the possible development of malignancy. No mucosal changes suggestive of lymphoma were identified with capsule endoscopy. Low attenuation mesenteric lymphadenopathy, without enlarged small bowel segments were seen on computed tomography. CEUS revealed arterial rim enhancement around the necrotic mesenteric lymph nodes, without venous wash-out. No malignant cells were identified on laparoscopic mesenteric lymph nodes biopsies. The patient died due to fulminant liver failure 14 months later; the histopathological examination revealed CD3/CD30-positive atypical T-cell lymphocytes in the liver, mesenteric tissue, spleen, gastric wall, kidney, lung and bone marrow samples; no malignant cells were present in the small bowel samples.
CEUS findings in EATL complicating CMLNS include arterial rim enhancement of the mesenteric tissue around the cavitating lymph nodes, without venous wash-out. This vascular pattern is not suggestive for neoangiogenesis, as arteriovenous shunts from malignant tissues are responsible for rapid venous wash-out of the contrast agent. CEUS failed to provide a diagnosis in this case.
CEUS; Celiac disease; Peripheral T-cell lymphoma; Cavitating mesenteric lymph node syndrome
Although patients with systemic lupus erythematosus (SLE) may experience various gastrointestinal disorders, SLE and Crohn’s disease (CD) rarely coexist. The diseases may have gastrointestinal (GI) manifestations, laboratory results, and radiographic findings that appear similar and consequently differentiating between GI involvement in CD and in SLE may be difficult. We present the case of a patient with SLE and CD who developed continuous GI bleeding and diarrhea that was initially treated as SLE-related colitis to little effect.
A 55-year-old Japanese woman with systemic lupus erythematosus (SLE) developed continuous gastrointestinal bleeding and diarrhea since the patient was aged 30 years that was initially treated as SLE-related colitis. Although a longitudinal ulcer and aphthous ulcers in the colon were observed every examination, biopsy showed only mild inflammation and revealed neither granuloma nor crypt abscess. The patient underwent surgery for anal fistulas twice at 50 and 54 years of age and her symptoms were atypical of lupus enteritis. Colonoscopy was performed again when the patient was 55 years of age because we suspected she had some type of inflammatory bowel disease (IBD). Cobblestone-like inflammatory polyps and many longitudinal ulcers were detected between the descending colon and the cecum. Macroscopic examination strongly suggested CD. Histopathological examination revealed non-caseating granuloma and no evidence of vasculitis, consistent with CD. Introduction of infliximab dramatically relieved the patient’s melena and abdominal symptoms.
Diagnostic criteria for CD and SLE overlap, making them difficult to diagnose correctly. It is important to consider CD for patients who have SLE with gastrointestinal manifestations. The pathology of lupus enteritis should be clarified through the accumulation of cases of SLE combined with CD.
Systemic lupus erythematosus (SLE); Crohn’s disease (CD); Longitudinal ulcer; Aphthous ulcers; Cobblestone-like inflammatory polyps; Non-caseating granuloma; Vasculitis; Infliximab
Short bowel syndrome (SBS) may induce a plethora of clinical symptoms ranging from underweight to nutrient-, vitamin- and electrolyte deficiencies. The objective of this case report is to illustrate how demanding the management of a 60 year old patient with SBS and recurrent joint attacks was for different medical disciplines.
The patient with SBS presented with a body mass index of 16.5 kg/m2 after partial jejunoileal resection of the small intestine with a six year long history of recurrent pain attacks in multiple peripheral joints, chronic diarrhoea and food intolerances. Pain attacks occurred 4–5 times a week with a median consumption of 15 mg prednisone per day. The interdisciplinary workup after several gastroenterologic, rheumatologic, radiologic, psychiatric and orthopedic consultations is shown including successful treatment steps.
Clinical diagnosis revealed no systemic inflammatory disease, but confirmed extreme hypomagnesemia (0.2 mmol/l) after reproducible pathological magnesium resorption tests as causative for chronic calcium pyrophosphate crystal inflammatory arthritis (pseudogout, chondrocalcinosis).
Multidisciplinary treatment included application of colchicines, parenteral nutrition and magnesium substitution, antiperistaltic agents and avoidance of intolerant foods. Normalization of magnesium levels and a marked remission of joint attacks were achieved after six months with significant reduction of prednisone to 1.5 mg/day.
Despite the rarity of this condition, it is important to know that hypomagnesaemia may be associated with calcium pyrophosphate crystal inflammatory arthritis (chondrocalcinosis) and that SBS patients may be prone to develop extreme hypomagnesaemia causing recurrent joint attacks without systemic inflammation.
SBS; Hypomagnesemia; Chondrocalcinosis; Pseudogout; CPPD
MCAD-deficiency is the most common inborn error of fatty acid oxidation now included in many newborn screening programms using MS/MS. During prolonged catabolic episodes, patients may suffer from metabolic decompensation with dysfunction of liver, skeletal- and heart muscle as well as brain. In anabolism, neither clinical symptoms nor biochemical signs of organ dysfunction occur.
We report a female patient with MCAD-deficiency in whom at the age of 11 years isolated AST-elevation was found without any clinical or biochemical signs of organ dysfunction. We showed by polyethylene glycol precipitation that macro-AST formation was responsible for this biochemical finding. AST was probably complexed with immunoglobulins possibly related to an allergic disposition. Macro-AST formation is not a special feature of MCAD-deficiency but rather a non-specific, coincidental finding which also occurs in healthy individuals. The general practitioner consulted by the patient before coming to our outpatient clinic for inborn errors of metabolism was worried that isolated AST-elevation indicated cell damage in MCAD-deficiency. He ordered further diagnostic tests like ultrasound, ECG and echocardiography without any pathology.
In isolated AST-elevation, macro-AST has to be considered in order to avoid unnecessary, costly and invasive evaluation. This is not only true for healthy persons but for patients with chronic diseases like MCAD as well.
Macro-AST; MCAD-deficiency; Liver; Heart; Muscle; Immunoglobulin
Leiomyosarcoma (LMS) of the gastrointestinal tract is an extremely rare high-grade neoplasm with poor prognosis. For advanced LMS with distant metastasis, the decision as to the choice of the most appropriate therapeutic strategy, including chemotherapy and surgery, is difficult. Here, we present an unusual case of LMS of the sigmoid colon with liver metastases and gastric cancer. The survival of this patient was prolonged by a combined modality therapy involving chemotherapy and surgery.
A 66-year-old woman who had been diagnosed with advanced gastric cancer and multiple liver metastases was referred to our hospital. The initial treatment with docetaxel and S-1 considerably reduced both the gastric cancer and liver tumors; consequently we performed surgical resection. Pathological examination revealed that no viable tumor cells remained in the stomach and chemotherapy resulted in complete remission of the gastric cancer. The liver tumors were immunohistochemically diagnosed as LMS. A tumor of the sigmoid colon was subsequently discovered and the liver tumors were found to have recurred. The surgically resected sigmoid colon and liver tumors were all immunohistochemically diagnosed as LMS. These findings indicated that the multiple liver metastases arose from the LMS in the sigmoid colon, and that they were accompanied by advanced gastric cancer. We performed another surgical resection and administered chemotherapy to treat the recurring liver metastases. The patient survived for 4 years and 10 months after initial presentation at our hospital.
Colonic LMS is rare and its joint occurrence with gastric cancer is extremely unusual. Although LMS is a high-grade neoplasm, a multimodal therapeutic approach can increase patient survival time even when multiple liver metastases are present.
Leiomyosarcoma; Gastric cancer; Liver metastasis; Surgery; Chemotherapy
Lynch syndrome confers increased risk for various malignancies, including colorectal cancer. Colonoscopic surveillance programs have led to reduced incidence of colorectal cancer and reduced mortality from colorectal cancer. Colonoscopy every 1–2 years beginning at age 20–25, or 10 years earlier than the first diagnosis of colorectal cancer in a family, with annual colonoscopy after age 40, is the recommended management for mutation carriers. Screening programs have reduced colon cancer mortality, but interval cancers may occur.
We describe a 48-year-old woman with Lynch syndrome who was found to have an adenoma with invasive colorectal cancer within one year after a normal colonoscopy.
Our patient illustrates two current concepts about Lynch syndrome: 1) adenomas are the cancer precursor and 2) such adenomas may be “aggressive,” in the sense that the adenoma progresses more readily and more rapidly to carcinoma in this setting compared to usual colorectal adenomas. Our patient’s resected tumor invaded only into submucosa and all lymph nodes were negative; in that sense, she represents a success for annual colonoscopic surveillance. Still, this case does raise the question of whether advanced imaging techniques are advisable for surveillance colonoscopy in these high-risk patients.
Lynch syndrome; Colorectal carcinoma, Surveillance