scholarly journals Acute Eosinophilic Ascites in a Middle-Aged Man

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Fadi Bleibel ◽  
Keith Fragoza ◽  
Garrey T. Faller

Eosinophilic gastroenteritis is a rare condition characterized by recurrent eosinophilic infiltration of portions of the GI tract and presenting with nonspecific GI symptoms in association with peripheral eosinophilia. Its etiology and pathogenesis remain unclear and its symptoms overlap with many GI and systemic diseases. Thus, both gastroenterologists and general internists need to be aware of this rare condition. We present a case of a 55-year-old male with diffuse abdominal pain and distention for two weeks. His physical examination was significant for moderate ascites. Initial work-up demonstrated severe peripheral blood eosinophilia, normal liver function tests, thickening of the stomach and small bowel wall, and elevated serum IgE. Upper endoscopy and extensive testing for malignancy and parasitic infections failed to establish a diagnosis. Ascitic fluid analysis showed significant eosinophilia. Further, a full-thickness jejunal showed marked eosinophilic infiltration of the serosa and muscularis propria. Subsequent treatment with oral prednisone resulted in normalization of laboratory and radiologic abnormalities in a few week period.

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Imalke Kankananarachchi ◽  
Eresha Jasinge ◽  
Gemunu Hewawitharana

Antiepileptics drugs are the mainstay of the management of epilepsy in children. Sodium valproate (VPA) and carbamazepine (CBZ) are widely used medications in childhood epilepsy. Hyperammonemia has been described as a known side effect of valproate therapy. It is known that VPA-associated HA is common among patients who hold genetic mutations of the carbomoyl phosphatase synthase 1 gene (CPS1). Aggravation of self-limited epilepsy with centrotemporal spikes (SLECTS) is a rare side effect of CBZ. Here, we present a child who had CBZ-induced aggravation of rolandic epilepsy and VPA-induced HA encephalopathy in the background of an unrecognised heterozygous gene variant of CPS1. An 8-year-old boy with SLECTS presented with a history of abnormal behaviours and drowsiness. He was apparently well until six years when he developed seizures in favour of rolandic epilepsy. His electroencephalogram (EEG) showed bilateral predominantly on the right-sided central-temporal spikes and waves. The diagnosis of SLECTS was made, and he was commenced on CBZ. Though he showed some improvement at the beginning, his seizure frequency increased when the dose of CBZ was increased. His repeat EEG showed electrical status in slow-wave sleep, and CBZ was stopped. Subsequently, he was started on VPA, and with that, he developed features of encephalopathy. He had elevated serum ammonia with normal liver functions. VPA was stopped with the suspicion of VPA-induced hyperammonemia. Tandem mass spectrometry did not show significant abnormality in the amino acid profile. Specific genetic analysis revealed a c.2756 C > T.p (Ser919Leu) heterozygote genetic mutation of the CSP 1 gene. This is a classic example where side effects of treatment determine the choice of antiepileptics drugs (AEDs) in childhood epilepsy. It is essential to keep in mind that SLECTS can be aggravated with certain AEDs, and VPA-induced HA in the absence of live failure could be due to underlying inherited metabolic disorders.


2021 ◽  
Author(s):  
Yong-Zhe Zhang ◽  
Geng Jian ◽  
Ping He ◽  
Rui Yu ◽  
Mi Tian ◽  
...  

Abstract Background: Wilson disease (WD) is a rare genetic disorder of copper metabolism. The difference in copper tissue accumulation lead to various clinical manifestations, including some atypical presentations. The complex clinical picture makes it easy to miss and misdiagnose, even delay the best chance for treatment. Case presentation: A 26-year-old male patient who had nephritis-range proteinuria and elevated serum creatinine. The renal pathology indicated Immunoglobulin A (IgA) nephropathy and tubular injury which was inconsistent with glomerular lesions. Cirrhosis was also detected by imaging examination. Considering both kidney injury and liver damage, WD was suspected. According to further detected results of abnormal copper metabolism, corneal Kayser-Fleischer rings(K-F rings), and genetic disorder of ATP7B gene, he was finally diagnosed as a case of WD.The patient was given oral penicillamine and zinc sulfate daily and he was also prescribed losartan to control proteinuria on the premise of monitoring renal function and blood pressure. During the 2 years follow-up, the patient’s 24h uric cooper dropped to normal. The sign of tremor hands disappeared. The Urine protein and renal function keep stable. The patient had normal liver function and maintained good quality of daily life. Conclusions: In some cases, IgA nephropathy patients with suspicious and unexplained neurological and liver symptoms cannot be ignored. They may eventually be diagnosed with WD.


2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Joana Matias ◽  
Maria Cabral ◽  
Luísa Carmona ◽  
Margarida Cabral ◽  
João Franco

Abstract Background The segmental absence of intestinal musculature is a rare clinical entity, usually manifested in the neonatal period. It is more frequent in preterm infants, particularly in very low birthweight infants. Typically, there are intestinal perforation or intestinal obstruction symptoms. Case presentation The authors report a case of a 30-week-gestational age extremely low birthweight newborn who presented, on the fourth day of life, with a progressively acute abdomen and radiological findings suggestive of intestinal perforation. An emergency laparotomy with segmental ileal resection was performed; intestinal perforation was not confirmed. The histopathological examination of the resected distended bowel revealed an area of severe hypoplastic muscularis propria (with remaining layers intact). Conclusion Preoperative diagnosis of segmental absence of intestinal musculature is extremely difficult; its definitive diagnosis relies solely on the histopathological examination. The clinicians and pathologists should be aware of this rare condition, the treatment and prognosis of which differs from the more common necrotising enterocolitis.


2018 ◽  
Vol 5 (suppl_1) ◽  
pp. S332-S332
Author(s):  
Theresa Madigan ◽  
Nipunie Rajapakse ◽  
Robin Patel

Abstract Background The BioFire FilmArray Gastrointestinal Panel (BioFire Diagnostics) (GIP) is a multiplex stool PCR test that detects 22 organisms. Studies in adults suggest that the diagnostic yield of the GIP in hospitalized patients is low. The utility of the GIP among hospitalized pediatric patients and indications for diagnostic stewardship of this test are not well described. Methods We conducted a retrospective chart review of hospitalized pediatric patients who had a GIP ordered between October 2015 and October 2017. Demographic, clinical, and laboratory information was extracted from the medical record. Statistical analysis was completed using JMP Pro 13.0.0 (SAS Institute Inc.). Results Over the 2-year study period, 193 GIPs were obtained on 155 individual pediatric patients. The mean patient age was 8 years and 59% were male. Forty-four percent of patients were immunocompromised and 21% had inflammatory bowel disease. The pediatric infectious disease (PID) team was consulted in 15% of patients at the time the test was ordered. The overall positivity rate of the GIP for one or more pathogens was 42% (Figure 1), with 76% of GIPs positive for one, 23% for two, and 1% for three pathogens. No parasitic infections were diagnosed. The GIP was more likely to be positive if GI symptom onset was prior to admission (48% vs. 24%, P = 0.004), if GI symptoms had been present for < 2 weeks vs. ≥2 weeks (52% vs. 20%, P = 0.0001), and if GI symptoms were the primary reason for the hospital admission (50% vs. 32%, P = 0.012). Only Clostridioides difficile or viral pathogens were detected in patients whose symptoms began in the hospital (Figure 2). Among patients with a positive test, 40% received treatment targeted at one or more of the detected pathogens (Figure 1). Enteropathogenic E.coli (EPEC) and Enteroaggregative E.coli (EAEC) were never treated (Figure 3). Conclusion The GIP was positive for one or more pathogens in 42% of hospitalized children for whom the test was ordered, and led to specific therapy in 40% of those with a positive test. EPEC and EAEC were not treated. The diagnostic yield of the GIP was higher if GI symptoms were present for <2 weeks, began before hospitalization, and were the primary reason for admission. The GIP was frequently obtained without guidance from the PID team. Disclosures R. Patel, CD Diagnostics, BioFire, Curetis, Merck, Hutchison Biofilm Medical Solutions, Accelerate Diagnostics, Allergan, and The Medicines Company: Grant Investigator, Research grant – monies paid to Mayo Clinic. Curetis, Specific Technologies, Selux Dx, GenMark Diagnostics, PathoQuest and Genentech: Consultant and Scientific Advisor, Consulting fee – monies paid to Mayo Clinic. ASM and IDSA: Travel reimbursement and editor’s stipends, Travel reimbursement and editor’s stipends. NBME, Up-to-Date and the Infectious Diseases Board Review Course: Varies, Honoraria. Mayo Clinic: Employee, Salary.


2016 ◽  
Vol 64 (4) ◽  
pp. 938.1-938
Author(s):  
N Vyas ◽  
H Alkhawam ◽  
S Ahmad ◽  
R Companioni ◽  
R Sogomonian ◽  
...  

IntroductionKaposi sarcoma (KS) is a vascular tumor that is commonly associated with human herpesvirus 8 (HHV-8). The epidemic type of KS is associated with the most common tumor arising in HIV infected people, which is considered by CDC guidelines an AIDS defining illness. Lesions on the skin are the most common initial presentation in patients unlike the involvement of visceral sites. We present a unique case of KS affecting the stomach, initially presenting as abdominal pain and diarrhea.CasePatient is a 34 year old female with past medical history of AIDS/HIV with a CD4 count of 143 cells/μL, VL 46 copies/mL on HAART therapy diagnosed with visceral and cutaneous manifestations presents to the ED with nausea, vomiting, diarrhea and diffuse abdominal pain for three days. The symptoms have progressively gotten worse. Patient denies any history of fevers, recent travel, sick contacts or recent antibiotic use. On examination, the patient had stable vitals and evidence of dark brown, papular skin lesions of various sizes over face, torso and upper extremity. Abdominal examination revealed tenderness in the epigastric area. Laboratory studies and initial abdominal cat-scan with contrast were unremarkable. All infectious workup was negative. However, EGD revealed esophageal nodule in the mid-distal esophagus (figure 1A), non-obstructive lower esophageal (LE) stricture (figure 1B), and a gastric ulcer raised with heaped margins (figure C). Biopsy of the gastric ulcer reveals KS with necrosis. Throughout hospital course, patient received 12 rounds of Doxirubicin for treatment, continued with HAART therapy. Patient is tolerating chemotherapy well, cutaneous lesions are improving and signs and symptoms of diarrhea and abdominal pain have alleviated.DiscussionCutaneous manifestation is usually the initial presentation of KS and visceral involvement is typically a later manifestation of disease. What is interesting in this case is the involvement of both cutaneous and visceral sites. It can be observed in the gastrointestinal (GI) tract, but rarely seen in the stomach. GI lesions may be asymptomatic or may cause weight loss, abdominal pain, nausea, vomiting and obstruction, which is seen in our case. EGD revealed distal LE stricture and gastric ulcer biopsy showing KS with necrosis. For AIDS patients who have KS, HAART therapy should be initiated to induce regression. For systemic treatment chemotherapy with Doxirubicin should be considered when there is symptomatic visceral or mucosal involvement and extensive cutaneous KS. We suggest the KS be included in the differential in AIDS patients with diarrhea and non-specific GI symptoms. Moreover, EGD should be considered for symptomatic patients because untreated GI KS includes hemorrhage and perforation.Abstract ID: 28 Figure 1


2001 ◽  
Vol 5 (3) ◽  
pp. 223-227 ◽  
Author(s):  
Anthony J. Papadopoulos ◽  
Robert A. Schwartz ◽  
Rajendra Kapila ◽  
Joseph A. Samady ◽  
Zbigniew Ruszczak ◽  
...  

Background: Pyoderma vegetans is a rare condition that is clinically characterized by large verrucous plaques with elevated borders and multiple pustules. The etiology of this disorder remains unknown. Objectives: We describe a 24-year-old woman with rapidly evolving pyoderma vegetans. Our patient had the unique additional findings of a highly elevated serum IgE level and a history of hidradenitis suppurativa. Conclusions: Pyoderma vegetans is diagnosed on clinical and histological criteria. Differentiation must be made from disorders such as pyoderma gangrenosum, Sweet's syndrome, and deep fungal infections. We illustrate a case of pyoderma vegetans and review the literature on this rare disorder. Clinical and histological criteria for diagnosis are presented, as well as differentiation from some mimicking disorders.


2020 ◽  
Author(s):  
Swastik Sourav Mishra ◽  
Tushar Subhadarshan Mishra ◽  
Suvradeep Mitra ◽  
Pankaj Kumar

Abstract Background: Thromboangiitis obliterans (TAO) or Buerger’s disease is a form of peripheral vascular disease in young male smokers. The involvement of the intestine occurs only about 2% of the cases. Symptoms of peripheral vascular disease usually precede intestinal manifestations, although the latter can sometimes be the index presentation. The cessation of smoking usually, though not necessarily, prevents the progression of the disease and visceral involvement.Case presentation: Our patient presented with diffuse abdominal pain along with bouts of vomiting and loose motions. He was a known smoker with a prior history of amputation of the right foot, four years before. Physical examination revealed abdominal distension and diffuse tenderness and guarding. An omental band attached to the tip of the appendix was discovered at the initial exploration along with dilated proximal bowel loops, for which a release of the omental band along with appendectomy was done. He developed an enterocutaneous fistula on the sixth postoperative day for which the abdomen was re-explored which revealed multiple segmental perforation in the jejunum and two subcentimetric perforation adjacent to each other in the distal ileum. Resection of the affected jejunal segment was performed followed by Roux-en-Y gastrojejunosotomy and distal ileostomy. A feeding jejunostomy was also performed. The bleeding from the cut ends was unsatisfactory. The patient however had persistent feculent discharge from the wound for which a third exploration was done which revealed a leak from the gastrojejunostomy and feeding jejunosotomy sites, both of which were repaired primarily. However, the patient developed septicemia with persistently elevated serum lactate levels which progressed to refractory septic shock and ultimately succumbed to the illness on 23rd postoperative day of the index surgery.Conclusion: Acute abdomen in a young man, who is a chronic smoker and having an antecedent history of amputation of some part of an extremity for a nontraumatic cause should raise the suspicion of Buerger’s disease of the intestine. Although it is a progressive disease and things are already late by the time intestinal symptoms manifest, early detection may give some scope of salvage and decreasing morbidity and mortality.


2021 ◽  
Vol 3 (5) ◽  
pp. 8-11
Author(s):  
Alamin Alkundi ◽  
Rabiu Momoh

Familial hypocalciuric hypercalcemia is a rare clinical condition of persistently elevated serum calcium and reduced urinary calcium levels with an autosomal dominance inheritance pattern to the three out of four large types of this condition known. This rare condition goes largely undiagnosed as patients are largely asymptomatic and where symptoms are present, other causes of hypercalcemia are considered first. Hyperparathyroidism, super-imposing on FHH, is an even rarer occurrence. We present the case of an adult male with an initial provisional assessment of FHH, which was later confirmed with a genetic study. He went on to develop hyperparathyroidism (with evident enlarged parathyroid glands on Sestamibi parathyroid scan done, and an eventual histologic diagnosis of parathyroid adenoma after surgery). It remains to be established if this is an incidental occurrence or if there is a causal relationship between FHH and an onward development of parathyroid hypertrophy or adenoma(ta).


2021 ◽  
Vol 14 (1) ◽  
pp. e237268
Author(s):  
Luke Horton ◽  
Nabil Al-Kourainy ◽  
Dana Kabbani ◽  
Carter R Bishop

Mastocytosis is a rare group of disorders that presents with heterogenous phenotypes depending on the organ system involved. In the absence of cutaneous involvement—mast cell aggregates that may present as papules, nodules or plaques—classically associated with indolent systemic mastocytosis (SM), the diagnosis of this rare condition is particularly challenging. When localised to the gastrointestinal (GI) tract, symptoms of indolent SM are often non-specific and mimic common conditions such as inflammatory bowel disease or irritable bowel syndrome. Diagnosis may be suspected by clinical presentation, but biopsy with histopathological analysis is necessary to confirm. We present a rare case of indolent SM without cutaneous features. In the absence of typical cutaneous features, indolent SM should be considered in the differential diagnosis of a patient with persistent GI symptoms refractory to medical treatment, as failure to do so can lead to delay in the appropriate diagnosis and treatment.


2013 ◽  
Vol 04 (01) ◽  
pp. 51-54 ◽  
Author(s):  
Summer Bell Gibson ◽  
Jennifer Juhl Majersik ◽  
A Gordon Smith ◽  
Mark B Bromberg

ABSTRACTAcute viral myositis is a rare condition that occurs during the recovery phase of an illness, most commonly influenza. It is characterized by muscle pain and weakness with an isolated laboratory finding of elevated serum creatine kinase (CK). We describe three previously healthy patients who were hospitalized after developing myositis following influenza‑like illness during the 2009 influenza A (H1N1) virus pandemic. All experienced myalgias and weakness in all four extremities, including distal upper extremities, associated with an elevated CK level that resolved along with their myalgias and weakness within one week with supportive care. These cases serve as a reminder that influenza‑related myositis may have atypical characteristics depending on the strain of influenza, and clinicians should be open to this possibility when new outbreaks occur.


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